CMD
MCID: MSC005
MIFTS: 66

Muscular Dystrophy (CMD)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Muscular Dystrophy

MalaCards integrated aliases for Muscular Dystrophy:

Name: Muscular Dystrophy 11 19 52 58 75 28 5 41 2 14 71 31 33
Muscular Dystrophies 53 43 14
Congenital Md 19 5
Pseudohypertrophic Muscular Dystrophy 33
Pseudohypertrophic Muscle Paralysis 33
Pseudohypertrophic Muscular Atrophy 33
Progressive Musclular Dystrophy 33
Congenital Muscular Dystrophy 19
Pseudohypertrophic Paralysis 33
Gower's Muscular Dystrophy 33
Pseudohypertrophic Atrophy 33
Pseudomuscular Hypertrophy 33
Dystrophy, Muscular 38
Cmd 19
Mdc 19

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:9884
MeSH 43 D009136
NCIt 49 C84910
SNOMED-CT 68 155095006
ICD10 31 G71.0
MESH via Orphanet 44 D009136
ICD10 via Orphanet 32 G71.0
UMLS via Orphanet 72 C0026850
Orphanet 58 ORPHA98473
UMLS 71 C0026850

Summaries for Muscular Dystrophy

NINDS: 52 The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin. Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling. Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

MalaCards based summary: Muscular Dystrophy, also known as muscular dystrophies, is related to limb-girdle muscular dystrophy and muscular dystrophy, limb-girdle, autosomal recessive 2, and has symptoms including back pain, muscle cramp and myoclonus. An important gene associated with Muscular Dystrophy is DMD (Dystrophin), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Acute viral myocarditis. The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone marrow and brain, and related phenotypes are no effect and no effect

MedlinePlus: 41 Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. NIH: National Institute of Neurological Disorders and Stroke

GARD: 19 Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

CDC: 2 Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get help as early as possible. Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.

Disease Ontology: 11 A myopathy is characterized by progressive skeletal muscle weakness degeneration.

Wikipedia: 75 Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular... more...

Related Diseases for Muscular Dystrophy

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related
Progressive Muscular Dystrophy

Diseases related to Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1422)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 34.6 TTN SGCG SGCA POMT2 MYOT LMNA
2 muscular dystrophy, limb-girdle, autosomal recessive 2 34.5 TTN SGCG SGCA POMT2 MYOT LMNA
3 facioscapulohumeral muscular dystrophy 1 34.5 TTN SGCG SGCA MYOT LMNA LAMA2
4 muscular dystrophy, congenital merosin-deficient, 1a 34.5 SGCG SGCA SELENON POMT2 LMNA LAMA2
5 muscular dystrophy, becker type 34.4 TTN SGCG SGCA LAMA2 FKTN FKRP
6 muscular dystrophy, duchenne type 34.3 TTN SGCA LAMA2 FKTN DYSF DMD
7 emery-dreifuss muscular dystrophy 34.3 TTN SGCG SGCA MYOT LMNA LAMA2
8 muscular dystrophy-dystroglycanopathy , type c, 5 34.3 TTN SGCG SGCA POMT2 LAMA2 GMPPB
9 muscular dystrophy, congenital, lmna-related 34.3 TTN SELENON POMT2 MYOT LMNA LAMA2
10 walker-warburg syndrome 34.2 SGCG SGCA SELENON POMT2 MYOT LMNA
11 muscular dystrophy-dystroglycanopathy , type a, 4 34.2 SGCA POMT2 LAMA2 GMPPB FKTN FKRP
12 autosomal recessive limb-girdle muscular dystrophy 34.1 TTN SGCG SGCA SELENON POMT2 MYOT
13 emery-dreifuss muscular dystrophy 2, autosomal dominant 34.1 SGCA LMNA LAMA2 FKRP EMD DYSF
14 tibial muscular dystrophy 34.1 TTN SGCG MYOT LAMA2 FKRP DYSF
15 ullrich congenital muscular dystrophy 1 34.0 SGCG SGCA SELENON LMNA LAMA2 FKTN
16 rigid spine muscular dystrophy 1 34.0 TTN SGCA SELENON POMT2 MYOT LMNA
17 autosomal recessive limb-girdle muscular dystrophy type 2a 34.0 TTN SGCG SGCA MYOT LMNA LAMA2
18 oculopharyngeal muscular dystrophy 33.9 PABPN1 LAMA2 DYSF DMD
19 miyoshi muscular dystrophy 33.9 TTN SGCG SGCA MYOT LAMA2 FKRP
20 muscular dystrophy-dystroglycanopathy , type c, 4 33.9 POMT2 MYOT GMPPB FKTN FKRP DYSF
21 muscular dystrophy, limb-girdle, autosomal dominant 2 33.9 SGCG SGCA MYOT LMNA FKRP DYSF
22 muscular dystrophy-dystroglycanopathy , type c, 1 33.9 SGCG POMT2 MYOT FKTN FKRP ANO5
23 bethlem myopathy 1 33.9 TTN SGCG SGCA SELENON POMT2 MYOT
24 muscular dystrophy-dystroglycanopathy , type c, 2 33.9 POMT2 GMPPB FKTN FKRP CAPN3 ANO5
25 muscular dystrophy-dystroglycanopathy , type c, 3 33.9 SGCA POMT2 GMPPB FKTN FKRP ANO5
26 autosomal recessive limb-girdle muscular dystrophy type 2b 33.8 SGCG SGCA MYOT LMNA LAMA2 FKRP
27 muscular dystrophy, limb-girdle, autosomal recessive 6 33.8 TTN SGCG SGCA FKRP DYSF DMD
28 neuromuscular disease 33.8 TTN SGCG SGCA SELENON PABPN1 MYOT
29 autosomal recessive limb-girdle muscular dystrophy type 2d 33.8 SGCG SGCA MYOT LAMA2 FKTN FKRP
30 muscular dystrophy, limb-girdle, autosomal dominant 1 33.8 MYOT DYSF CAPN3 ANO5
31 muscular dystrophy, limb-girdle, autosomal recessive 7 33.8 TTN MYOT FKRP DYSF DMD CAPN3
32 muscular dystrophy-dystroglycanopathy , type b, 5 33.8 POMT2 LAMA2 FKTN FKRP
33 muscular dystrophy-dystroglycanopathy , type b, 1 33.7 POMT2 LAMA2 GMPPB FKTN FKRP DMD
34 autosomal recessive limb-girdle muscular dystrophy type 2c 33.7 SGCG SGCA MYOT LAMA2 FKRP DYSF
35 muscular dystrophy-dystroglycanopathy , type c, 14 33.7 GMPPB FKTN ANO5
36 muscular dystrophy, limb-girdle, autosomal recessive 8 33.7 TTN FKRP DYSF CAPN3
37 miyoshi muscular dystrophy 3 33.7 SGCG SGCA FKRP DYSF CAPN3 ANO5
38 autosomal recessive limb-girdle muscular dystrophy type 2l 33.6 SGCG SGCA POMT2 MYOT FKTN FKRP
39 muscular dystrophy-dystroglycanopathy , type b, 6 33.6 POMT2 FKTN FKRP
40 autosomal recessive limb-girdle muscular dystrophy type 2g 33.6 TTN SGCG SGCA MYOT FKRP DYSF
41 myopathy, myofibrillar, 3 33.6 TTN SGCA MYOT DYSF DMD CAPN3
42 muscular dystrophy, limb-girdle, autosomal recessive 4 33.6 TTN SGCA FKRP DYSF CAPN3
43 muscle eye brain disease 33.6 SGCA POMT2 LAMA2 GMPPB FKTN FKRP
44 autosomal recessive limb-girdle muscular dystrophy type 2j 33.6 TTN SGCG SGCA MYOT FKRP DYSF
45 muscular dystrophy-dystroglycanopathy , type a, 1 33.6 POMT2 FKTN FKRP
46 autosomal recessive limb-girdle muscular dystrophy type 2h 33.5 SGCG SGCA MYOT FKRP DYSF CAPN3
47 autosomal dominant limb-girdle muscular dystrophy 33.5 SGCA MYOT LMNA FKRP DYSF CAPN3
48 autosomal recessive limb-girdle muscular dystrophy type 2f 33.5 SGCG SGCA FKRP DYSF DMD CAPN3
49 myopathy, x-linked, with postural muscle atrophy 33.5 MYOT LMNA EMD
50 myopathy, myofibrillar, 1 33.5 TTN SELENON MYOT LMNA DYSF DMD

Comorbidity relations with Muscular Dystrophy via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Muscular Dystrophy:



Diseases related to Muscular Dystrophy

Symptoms & Phenotypes for Muscular Dystrophy

UMLS symptoms related to Muscular Dystrophy:


back pain; muscle cramp; myoclonus; sciatica; torticollis

GenomeRNAi Phenotypes related to Muscular Dystrophy according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ANO5 CAPN3 CHKB COL6A2 DMD DYSF
2 no effect GR00402-S-2 10.15 ANO5 CAPN3 CHKB COL6A2 DYSF EMD

MGI Mouse Phenotypes related to Muscular Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.2 ANO5 CAPN3 CHKB DMD DYSF EMD
2 homeostasis/metabolism MP:0005376 10.13 ANO5 CAPN3 CHKB DMD DYSF EMD
3 cellular MP:0005384 9.97 ANO5 DMD DYSF EMD FKRP FKTN
4 behavior/neurological MP:0005386 9.83 ANO5 CHKB COL6A2 DMD DYSF EMD
5 skeleton MP:0005390 9.28 ANO5 CHKB DMD FKRP LAMA2 LMNA

Drugs & Therapeutics for Muscular Dystrophy

Drugs for Muscular Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 230)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
2
Ramipril Approved Phase 4 87333-19-5 5362129
3
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
4
Alendronic acid Approved Phase 4 121268-17-5, 66376-36-1 2088
5
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
6 Adrenergic Antagonists Phase 4
7 Adrenergic alpha-Antagonists Phase 4
8 Adrenergic alpha-1 Receptor Antagonists Phase 4
9 Adrenergic beta-Antagonists Phase 4
10 Vitamins Phase 4
11 Vaccines Phase 4
12 Calcium, Dietary Phase 4
13 Hormones Phase 4
14 calcium channel blockers Phase 4
15 Anti-Bacterial Agents Phase 4
16 Antibiotics, Antitubercular Phase 4
17 Calciferol Phase 4
18 Diphosphonates Phase 4
19
Calcium Nutraceutical Phase 4 7440-70-2 271
20
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
21
Metformin Approved Phase 3 1115-70-4, 657-24-9 4091
22
Eplerenone Approved Phase 3 107724-20-9 443872
23
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
24
Enalaprilat Approved Phase 3 76420-72-9 6917719 5462501
25
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5388962 5362032
26
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
27
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
28
Tamoxifen Approved Phase 3 10540-29-1, 54965-24-1 2733526
29
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
30
Idebenone Approved, Investigational Phase 3 58186-27-9 3686
31
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
32
L-Glutamine Approved, Investigational, Nutraceutical Phase 2, Phase 3 56-85-9 5961
33
Ubidecarenone Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
34
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
35
Epigallocatechin Experimental, Investigational Phase 2, Phase 3 970-74-1 72277
36 Angiotensin-Converting Enzyme Inhibitors Phase 3
37 Antihypertensive Agents Phase 3
38 Cardiotonic Agents Phase 2, Phase 3
39
protease inhibitors Phase 3
40 HIV Protease Inhibitors Phase 3
41 Anti-Inflammatory Agents Phase 2, Phase 3
42 Adrenergic Agents Phase 3
43 Neurotransmitter Agents Phase 3
44 Hypoglycemic Agents Phase 3
45 Tea Phase 2, Phase 3
46 Neuroprotective Agents Phase 2, Phase 3
47 Adrenergic Agonists Phase 3
48 Adrenergic beta-Agonists Phase 3
49 Sodium Channel Blockers Phase 3
50 Anti-Arrhythmia Agents Phase 3

Interventional clinical trials:

(showing 516, show less)
# Name Status NCT ID Phase Drugs
1 Effects of Cardioprotective Therapy, Carvedilol vs Ramipril, in Patients Affected by Duchenne and Becker Muscular Dystrophy. Clinical Significance and Prognostic Value of Cardiac Magnetic Resonance Study. Unknown status NCT00819845 Phase 4 carvedilol;ramipril
2 Carvedilol for the Prevention of Minor Cardiac Damage and Cardiac Function in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
3 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 Phase 4
4 Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
5 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
6 Évaluation Multidimensionnelle de la réponse au Traitement de l'ostéoporose spontanée et Induite Par Les corticostéroïdes à l'Aide d'un Bisphosphonate à Administration Orale Chez Des Malades Porteurs d'Une Dystrophie Musculaire sévère. Completed NCT01882400 Phase 4 Bisphosphonate treatment
7 Phase-2 Trial of 5mg/kg/Week Prednisolone in Young Boys With DMD Recruiting NCT05412394 Phase 4 Prednisolone
8 Long-term Use of Viltolarsen in Boys With Duchenne Muscular Dystrophy in Clinical Practice (VILT-502) Active, not recruiting NCT04687020 Phase 4 Viltolarsen
9 An Open-Label Study to Evaluate the Safety of Golodirsen in Non-Ambulant Patients With Duchenne Muscular Dystrophy Terminated NCT04708314 Phase 4 Golodirsen 50 MG/1 ML Intravenous Solution [VYONDYS 53]
10 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
11 An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
12 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Completed NCT02147639 Phase 2, Phase 3
13 A Phase III, Randomized, Double Blind, Placebo-controlled Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3 GSK2402968 6mg/kg/week
14 An Open-Label, Multi-Center, Study With a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy Completed NCT02255552 Phase 3 eteplirsen
15 "A Double Blind Randomised Placebo Controlled Efficacy and Safety Study of L-citrulline and Metformin in Ambulant Children Aged Between 7 and 10 Years With Duchenne's Muscular Dystrophy" Completed NCT01995032 Phase 3 750 mg metformin and 7.5 g L-citrulline daily p.o.;Placebo
16 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
17 A Randomized, Double Blind, Placebo-Controlled, Study to Assess the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy Completed NCT03039686 Phase 2, Phase 3 RO7239361;Placebo for RO7239361
18 A Multicenter Randomized Placebo-controlled Double-blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
19 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
20 A Phase III Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in 10-18 Year Old Patients With Duchenne Muscular Dystrophy Completed NCT01027884 Phase 3 Placebo;Idebenone
21 A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD) Completed NCT00018109 Phase 3 glutamine;creatine monohydrate
22 A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Completed NCT03703882 Phase 3 Edasalonexent;Placebo
23 A Randomized Study of Daily vs. High-dose Weekly Prednisone Therapy in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
24 Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Completed NCT02851797 Phase 3 givinostat;placebo
25 A Randomized, Double-Blind, Placebo-Controlled, Multi-center Study to Examine the Effect of Nebivolol, a Beta-Blockade Drug, for the Prevention of Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Completed NCT01648634 Phase 3 Nebivolol;Placebo
26 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Completed NCT01603407 Phase 3 Prednisone;Deflazacort
27 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
28 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
29 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
30 A Pivotal, Multicenter, Open-label, Randomized Withdrawal, Non-Treatment Concurrent Control Study to Assess the Safety, Tolerability, and Efficacy of Cabaletta® in OPMD Patients Who Participated in Study BBCO-001 Completed NCT02328482 Phase 3 Tehalose 30gr
31 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
32 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Efficacy and Safety of Human Allogeneic Cardiosphere-Derived Cells for the Treatment of Duchenne Muscular Dystrophy Recruiting NCT05126758 Phase 3 Placebo
33 A Phase 3 Global, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) Recruiting NCT05397470 Phase 3 Losmapimod;Placebo oral tablet
34 A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of a High Dose of Eteplirsen, Preceded by an Open-label Dose Escalation, in Patients With Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping Recruiting NCT03992430 Phase 3 Eteplirsen
35 The Efficacy and Safety of Metoprolol as add-on Treatment to Standard of Care in Preventing Cardiomyopathy in Patients With Duchenne Muscular Dystrophy Aged 8-16 Years. A Randomized, Double-blind, Placebo-controlled Study Recruiting NCT05066633 Phase 3 Metoprolol Succinate;Placebo
36 Bisoprolol for Early Cardiomyopathy in Duchenne Muscular Dystrophy: a Randomized, Controlled Trial Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
37 A PHASE 3, MULTICENTER, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED STUDY TO EVALUATE THE SAFETY AND EFFICACY OF PF 06939926 FOR THE TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY Recruiting NCT04281485 Phase 3
38 A Phase 3 Randomized, Double-blind, Placebo-controlled, Multi-center Study to Assess the Efficacy and Safety of Viltolarsen in Ambulant Boys With Duchenne Muscular Dystrophy (DMD) Recruiting NCT04060199 Phase 3 Viltolarsen;Placebo
39 Tadalafil as an Adjuvant to Therapy for Duchenne Muscular Dystrophy Recruiting NCT05195775 Phase 2, Phase 3 Tadalafil
40 A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
41 A Phase 3, Randomized, Placebo-controlled, Double-blind and Open-label, Extension Study of TAS-205 in Patients With Duchenne Muscular Dystrophy Recruiting NCT04587908 Phase 3 TAS-205;Placebo
42 A Phase 3, Randomized, Double-Blind, Trial of Pamrevlumab (FG-3019) or Placebo in Combination With Systemic Corticosteroids in Ambulatory Subjects With Duchenne Muscular Dystrophy (DMD) Active, not recruiting NCT04632940 Phase 3 Pamrevlumab;Placebo
43 Tamoxifen in Duchenne Muscular Dystrophy: A Multicenter, Randomised, Double-blind, Placebo-controlled, Phase 3 Safety and Efficacy 48-week Trial Active, not recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
44 A Phase 3, Randomized, Double-Blind, Trial of Pamrevlumab (FG-3019) or Placebo in Combination With Systemic Corticosteroids in Subjects With Non-ambulatory Duchenne Muscular Dystrophy (DMD) Active, not recruiting NCT04371666 Phase 3 Pamrevlumab;Placebo
45 A Phase 3 Multinational, Randomized, Double-Blind, Placebo-Controlled Systemic Gene Delivery Study to Evaluate the Safety and Efficacy of SRP-9001 in Patients With Duchenne Muscular Dystrophy (EMBARK) Active, not recruiting NCT05096221 Phase 3
46 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Active, not recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
47 Long-term, Open-label Extension Study for Patients With Duchenne Muscular Dystrophy Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen Enrolling by invitation NCT03532542 Phase 3 Casimersen;Golodirsen
48 A Phase 3, Multi-center, Open-label Extension Study to Assess the Safety and Efficacy of Viltolarsen in Ambulant Boys With Duchenne Muscular Dystrophy (DMD) Enrolling by invitation NCT04768062 Phase 3 Viltolarsen
49 An Open-Label, Safety Study for Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren
50 Open Label, Long-term Safety, Tolerability, and Efficacy Study of GIVINOSTAT in All DMD Patients Who Have Been Previously Treated in One of the GIVINOSTAT Studies Enrolling by invitation NCT03373968 Phase 2, Phase 3 Givinostat
51 A Randomized, Double-blind, Placebo-controlled, Efficacy and Safety Study of WVE-210201 With Open-label Extension in Ambulatory Patients With Duchenne Muscular Dystrophy (DYSTANCE 51) Terminated NCT03907072 Phase 2, Phase 3 WVE-210201 (suvodirsen);Placebo
52 An Open-label Extension Study of the Long-term Safety, Tolerability and Efficacy of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
53 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Terminated NCT02878694 Phase 2, Phase 3
54 A Phase III Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Who Completed the SIDEROS Study Terminated NCT03603288 Phase 3 idebenone 150 mg film-coated tablets
55 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Terminated NCT03917719 Phase 3 Edasalonexent
56 A Multicenter Open-Label Study on the Safety and Efficacy of Deflazacort (Emflaza) in Subjects With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Terminated NCT03783923 Phase 3 Deflazacort
57 A Phase III Double-blind, Randomized, Placebo-Controlled Study Assessing the Efficacy, Safety and Tolerability of Idebenone in Patients With Duchenne Muscular Dystrophy Receiving Glucocorticoid Steroids Terminated NCT02814019 Phase 3 Idebenone 150 mg film-coated tablets;placebo
58 PITT0503: Clinical Trial of Coenzyme Q10 and Prednisone in Duchenne Muscular Dystrophy Terminated NCT00308113 Phase 3 Prednisone
59 An Open-label Extension Study of the Long-term Safety, Tolerability and Efficacy of Drisapersen in US and Canadian Subjects With Duchenne Muscular Dystrophy. Terminated NCT01803412 Phase 3 Drisapersen
60 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
61 Evaluation of a Mechanical Insufflation-exsufflation Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders: a Prospective, Randomized, Controlled, Multicenter Study Terminated NCT00839033 Phase 3
62 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Terminated NCT02090959 Phase 3 Ataluren
63 A 52-Week Phase 3B Randomized Open-Label Study Evaluating the Safety and Pharmacokinetics of Emflaza® (Deflazacort) Compared to a Comparable Natural History Control Group in Males Aged ≥2 to <5 Years With Duchenne Muscular Dystrophy (DMD) Followed by a 52-Week Extension Period Withdrawn NCT03642145 Phase 3 Deflazacort
64 A Continued Access Protocol for Eligible US Subjects With Duchenne Muscular Dystrophy Who Previously Participated in an Approved Drisapersen Study Withdrawn NCT01890798 Phase 3 Drisapersen
65 Study Safety and Efficacy of of AUTOLOGOUS Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) for the Patient With Duchenne Muscular Dystrophy. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01834040 Phase 1, Phase 2
66 Safety and Efficacy of Bone Marrow Autologous Cells in Muscular Dystrophy. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01834066 Phase 1, Phase 2
67 Safety and Efficacy of Purified Autologous Bone Marrow-Derived Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy. Unknown status NCT03067831 Phase 1, Phase 2
68 Phase II Study of Nonsense Readthrough Compound NPC-14 (Arbekacin Sulfate) to Explore Safety, Tolerability, and Efficacy in Duchenne Muscular Dystrophy Patients (NORTH POLE DMD Study) Unknown status NCT01918384 Phase 2 NPC-14;Placebo
69 Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy: Phase 1/2 Study Unknown status NCT02285673 Phase 1, Phase 2
70 Phase I/II Study of Stem Cell Therapy in Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
71 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
72 An Open-label, Un-controlled, Single-centre Trial Investigating the Efficacy and Safety of CRD007 in Children With Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD) or Children Being Symptomatic Carriers for DMD or BMD Completed NCT01540604 Phase 2 CRD007
73 An Open-Label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophy Completed NCT02836418 Phase 1, Phase 2 ATYR1940
74 A Phase 2B Efficacy and Safety Study of PTC124 in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy Completed NCT00592553 Phase 2 Ataluren;Placebo
75 A Phase II Open-label Extension Study to Obtain Long-term Safety, Tolerability and Efficacy Data of Idebenone in the Treatment of Duchenne Muscular Dystrophy - Extension to Study SNT-II-001 Completed NCT00758225 Phase 2 Idebenone
76 Pilot Study to Assess the Efficacy of L-Citrulline and Metformin in Adults With Becker's Muscular Dystrophy Completed NCT02018731 Phase 2 Metformin and Metformin & L-Citrulline;L-Citrulline and Metformin & L-Citrulline
77 IGF-1 Therapy and Muscle Function in Duchenne Muscular Dystrophy Completed NCT01207908 Phase 1, Phase 2 IGF-1
78 A Phase II, Double Blind, Exploratory, Parallel-group, Placebocontrolled Clinical Study to Assess Two Dosing Regimens of GSK2402968 for Efficacy, Safety, Tolerability and Pharmacokinetics in Ambulant Subjects With Duchenne Muscular Dystrophy Completed NCT01153932 Phase 2 GSK2402968;matched placebo
79 A 24-month Phase II Open-label, Multicenter Long-term Extension Study to Assess the Long-Term Safety and Efficacy of Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT03038399 Phase 2 Vamorolone 0.25 mg/day/day;Vamorolone 0.75 mg/day/day;Vamorolone 2.0 mg/day/day;Vamorolone 6.0 mg/day/day
80 Clinical Study to Assess the Safety fo AVI-4658 in Subjects With Duchenne Muscular Dystrophy Due to a Frame-shift Mutation Amenable to Correction by Skipping Exon 51. Completed NCT00844597 Phase 1, Phase 2 AVI-4658 for Injection
81 Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy by Autologous Transplantation of Myoblasts Completed NCT00773227 Phase 2
82 An Exploratory Study to Assess Two Doses of GSK2402968 in the Treatment of Ambulant Boys With Duchenne Muscular Dystrophy Completed NCT01462292 Phase 2 GSK2402968 3mg/kg/week;GSK2402968 6 mg/kg/week;Placebo to match GSK2402968 3 mg/kg/week;Placebo to match GSK2402968 6 mg/kg/week
83 A Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Efficacy, Safety, Tolerability and Pharmacokinetics Study of AVI-4658(Eteplirsen),in the Treatment of Ambulant Subjects With Duchenne Muscular Dystrophy Completed NCT01396239 Phase 2 AVI-4658 (Eteplirsen)
84 Phase I/II Study of DS-5141b: Open-label Study of DS-5141b in Patients With Duchenne Muscular Dystrophy Completed NCT02667483 Phase 1, Phase 2 DS-5141b
85 An Open-Label, Intrapatient Dose-Escalation Study to Evaluate the Safety, Tolerability, Immunogenicity, and Biological Activity of ATYR1940 in Patients With Early Onset and Other Pediatric Onset Facioscapulohumeral Muscular Dystrophy Completed NCT02603562 Phase 1, Phase 2
86 A Phase IIa Double Blind, Randomised, Placebo Controlled, Single Centre Study at the University of Leuven to Assess the Efficacy and Tolerability of Idebenone in 8 - 16 Year Old Males With Cardiac Dysfunction Associated With Duchenne Muscular Dystrophy Completed NCT00654784 Phase 2 idebenone;placebo
87 A Phase 2 Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Duchenne Muscular Dystrophy Completed NCT00264888 Phase 2 PTC124
88 An Open-label Pilot Study of Coenzyme Q10 in Steroid-Treated Duchenne Muscular Dystrophy Completed NCT00033189 Phase 2 Coenzyme Q10
89 A Phase IIa Open-Label, Multiple Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT02760264 Phase 2 Vamorolone 0.25 mg/kg/day;Vamorolone 0.75 mg/kg/day;Vamorolone 2.0 mg/kg/day;Vamorolone 6.0 mg/kg/day
90 A Randomized Phase IIa Study of TAS-205 in Patients With Duchenne Muscular Dystrophy Completed NCT02752048 Phase 2 TAS-205;Placebo
91 A Phase I/IIa, Open Label, Escalating Dose, Pilot Study to Assess the Effect, Safety, Tolerability and Pharmacokinetics of Multiple Subcutaneous and Intravenous Doses of PRO044 in Patients With Duchenne Muscular Dystrophy Completed NCT01037309 Phase 1, Phase 2 PRO044 SC;PRO044 IV
92 Phase 2, Non-Interventional, Clinical Study to Assess Dystrophin Levels in Subjects With Nonsense Mutation Duchenne Muscular Dystrophy Who Have Been Treated With Ataluren for ≥9 Months Completed NCT03796637 Phase 2 Ataluren
93 Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: A Phase I/II Clinical Trial Using AVI-4658 Completed NCT00159250 Phase 1, Phase 2 AVI-4658 (PMO)
94 KUL0401: An Open-label Pilot Study of Oxatomide in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00033813 Phase 2 Oxatomide (tinset)
95 A Phase II, Dose Finding Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NS-065/NCNP-01 in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT02740972 Phase 2 NS-065/NCNP-01;Placebo
96 Phase 2 Historically Controlled Trial of Corticosteroids in Young Boys With Duchenne Muscular Dystrophy Completed NCT02167217 Phase 2 Prednisolone
97 Efficacy Study of Oral Glutamine Supplementation in Duchenne Muscular Dystrophy Completed NCT00296621 Phase 2 L-Glutamine;placebo
98 An Open-Label Pilot Study of Pentoxifylline in Steroid-naive Duchenne Muscular Dystrophy Completed NCT00102453 Phase 1, Phase 2 Pentoxifylline
99 A Phase II Open-label, Multicenter Extension Study to Assess the Long-term Safety and Efficacy of Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT02760277 Phase 2 Vamorolone 0.25 mg/day/day;Vamorolone 0.75 mg/day/day;Vamorolone 2.0 mg/day/day;Vamorolone 6.0 mg/day/day
100 Open-Label, Multiple-Dose, Efficacy, Safety, and Tolerability Study of Eteplirsen in Subjects With Duchenne Muscular Dystrophy Who Participated in Study 4658-US-201 Completed NCT01540409 Phase 2 AVI-4658 (Eteplirsen)
101 A Single Center Dose Ranging Pilot Study of (+)-Epicatechin in Non-ambulatory Adolescents With Duchenne Muscular Dystrophy and Pre-symptomatic Cardiac Dysfunction Completed NCT02964377 Phase 1, Phase 2 (+)- Epicatechin
102 A Phase IIb Randomized, Double-blind, Parallel Group, Placebo- and Active-controlled Study With Double-Blind Extension to Assess the Efficacy and Safety of Vamorolone in Ambulant Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT03439670 Phase 2 Vamorolone;Prednisone
103 An Open-label Pilot Study of Purified Tea-derived Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy. Completed NCT01856868 Phase 1, Phase 2 (-)-epicatechin
104 Does Modulation of the nNOS System in Patients With Muscular Dystrophy and Defect nNOS Signalling Affect Cardiac, Muscular or Cognitive Function? Completed NCT01350154 Phase 2 Sildenafil;Placebo
105 Exploratory Study of NS-089/NCNP-02 in Duchenne Muscular Dystrophy Completed NCT04129294 Phase 1, Phase 2 NS-089/NCNP-02
106 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) Completed NCT04003974 Phase 2 Losmapimod;Placebo oral tablet
107 A Two-Part Study to Assess the Safety and Tolerability, Pharmacokinetics, and Effects on Histology and Different Clinical Parameters of Givinostat in Ambulant Children With Duchenne Muscular Dystrophy Completed NCT01761292 Phase 1, Phase 2 Givinostat
108 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Safety and Efficacy of Intravenous Delivery of Allogeneic Cardiosphere-Derived Cells in Subjects With Duchenne Muscular Dystrophy Completed NCT03406780 Phase 2 Placebo
109 An Open-Label Extension Study to Evaluate the Long-Term Safety, Tolerability, Biological Activity, and Systemic Exposure of ATYR1940 in Adult Patients With Fascioscapulohumeral Muscular Dystrophy (FSHD) Completed NCT02531217 Phase 1, Phase 2
110 A Randomized, Open-label Study of the Safety and Efficacy of Multi- Vessel Intracoronary Delivery of Allogeneic Cardiosphere-Derived Cells in Patients With Cardiomyopathy Secondary to Duchenne Muscular Dystrophy Completed NCT02485938 Phase 1, Phase 2 Allogeneic Cardiosphere-Derived Cells (CAP-1002)
111 A 2-Part, Randomized, Double-Blind, Placebo-Controlled, Dose-Titration, Safety, Tolerability, and Pharmacokinetics Study (Part 1) Followed by an Open-Label Efficacy and Safety Evaluation (Part 2) of SRP-4053 in Patients With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping Completed NCT02310906 Phase 1, Phase 2 Placebo;SRP-4053
112 An Open-Label, Multi-Center Study to Evaluate the Safety, Efficacy and Tolerability of Eteplirsen in Early Stage Duchenne Muscular Dystrophy Completed NCT02420379 Phase 2 eteplirsen
113 A Phase II, Open-Label, Extension Study to Assess the Safety and Efficacy of NS-065/NCNP-01 in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT03167255 Phase 2 NS-065/NCNP-01
114 An Open-Label, Multi-Center Study to Evaluate the Safety and Tolerability of Eteplirsen in Patients With Advanced Stage Duchenne Muscular Dystrophy Completed NCT02286947 Phase 2 Eteplirsen
115 A Randomised, Double Blind, Placebo Controlled Study to Evaluate the Micro-macroscopic Effects on Muscles, the Safety and Tolerability, and the Efficacy of Givinostat in Patients With Becker Muscular Dystrophy (BMD) Completed NCT03238235 Phase 2 givinostat;placebo
116 Phase I/II Clinical Intramuscular Gene Transfer of rAAV1.CMV.huFollistatin344 Trial to Patients With Duchenne Muscular Dystrophy Completed NCT02354781 Phase 1, Phase 2
117 UCD0115B: An Open-label Extension Study of Purified Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy Completed NCT03236662 Phase 2 (-)-Epicatechin
118 An Open-Label Safety, Tolerability, and Pharmacokinetics Study of Eteplirsen in Young Patients With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping Completed NCT03218995 Phase 2 Eteplirsen
119 A Phase 1/2 Study of Edasalonexent (CAT-1004) in Pediatric Patients With Duchenne Muscular Dystrophy Completed NCT02439216 Phase 1, Phase 2 Edasalonexent;Placebo
120 Phase 2 Clinical Pharmacology Study to Assess Dystrophin Levels in Subjects With nmDMD Before and After Treatment With Ataluren Completed NCT03648827 Phase 2 Ataluren
121 Low Protein Diet to Correct Defective Autophagy in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
122 Multi-Center, Dose-Escalation Study, to Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta® in OPMD Patients Completed NCT02015481 Phase 2 Cabaletta
123 An Open-Label, Intrapatient Dose Escalation Study to Evaluate the Safety, Tolerability, Immunogenicity, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
124 A Double-Blinded Randomized Placebo Controlled Study of Daily Pentoxifylline as a Rescue Treatment in DMD Completed NCT00243789 Phase 1, Phase 2 Pentoxifylline
125 A Phase 2 Study of the Safety, Pharmacokinetics, and Pharmacodynamics of Ataluren (PTC124®) in Patients Aged ≥2 to <5 Years Old With Nonsense Mutation Dystrophinopathy Completed NCT02819557 Phase 2 Ataluren
126 A Placebo-Controlled, Randomized, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics (PK), and Biological Activity of ATYR1940 in Adult Patients With Molecularly Defined Genetic Muscular Dystrophies Completed NCT02239224 Phase 1, Phase 2
127 Phase I/IIA Gene Transfer Clinical Trial for LGMD2D (Alpha-Sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Completed NCT01976091 Phase 1, Phase 2
128 A Phase II Pilot Trial of Vamorolone vs. Placebo for the Treatment of Becker Muscular Dystrophy Recruiting NCT05166109 Phase 2 Vamorolone;Placebo
129 A Phase II Open-Label, Multiple Dose Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of Vamorolone in Boys Ages 2 to <4 Years and 7 to <18 Years With Duchenne Muscular Dystrophy (DMD) Recruiting NCT05185622 Phase 2 Vamorolone
130 An Open-label Phase 1b/2a Study of WVE-N531 in Patients With Duchenne Muscular Dystrophy Recruiting NCT04906460 Phase 1, Phase 2 WVE-N531
131 A PHASE 2, MULTICENTER, SINGLE-ARM STUDY TO EVALUATE THE SAFETY AND DYSTROPHIN EXPRESSION AFTER FORDADISTROGENE MOVAPARVOVEC (PF-06939926) ADMINISTRATION IN MALE PARTICIPANTS WITH EARLY STAGE DUCHENNE MUSCULAR DYSTROPHY Recruiting NCT05429372 Phase 2
132 A Single Escalating Dose Pilot Trial of Canakinumab (ILARIS®) Assessing Safety and Biomarker Changes in Boys With Duchenne Muscular Dystrophy Recruiting NCT03936894 Phase 1, Phase 2 Canakinumab Injection [Ilaris]
133 Transplantation of Myoblasts to Duchenne Muscular Dystrophy (DMD) Patients Recruiting NCT02196467 Phase 1, Phase 2
134 An Open-Label Study Evaluating the Safety and Pharmacokinetics of Ataluren in Children From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy Recruiting NCT04336826 Phase 2 Ataluren
135 A Phase 2, Two-Part, Multiple-Ascending-Dose Study of SRP-5051 for Dose Determination, Then Dose Expansion, in Patients With Duchenne Muscular Dystrophy Amenable to Exon 51-Skipping Treatment Recruiting NCT04004065 Phase 2 SRP-5051
136 A Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Study With an Open-Label Extension to Determine the Safety, Pharmacokinetics and Efficacy of Oral Ifetroban in Subjects With Duchenne Muscular Dystrophy Recruiting NCT03340675 Phase 2 Ifetroban;Placebo
137 A Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Effect of EDG-5506 on Safety, Biomarkers, Pharmacokinetics, and Functional Measures in Adults and Adolescents With Becker Muscular Dystrophy Recruiting NCT05291091 Phase 2 EDG-5506 Dose 1;EDG-5506 Dose 2;EDG-5506 Dose 3;EDG-5506 Dose 4;EDG-5506 Dose 5;Placebo
138 A Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending Dose Study Assessing Safety, Tolerability, Pharmacodynamics, Efficacy, and Pharmacokinetics of DYNE-251 Administered to Participants With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping Recruiting NCT05524883 Phase 1, Phase 2 DYNE-251;Placebo
139 A Phase 1-2 Multicenter Study (2-stages) to Evaluate the Safety and Efficacy of Intravenous GNT0006, Adeno-associated Viral Vector Carrying the FKRP Gene, in Patients With FKRP-related Limb-girdle Muscular Dystrophy (LGMDR9, Formerly LGMD2I) Recruiting NCT05224505 Phase 1, Phase 2
140 Impact and Interplay of Corticosteroid Regimen and Exercise Training on DMD Muscle Function Recruiting NCT04322357 Phase 2 Prednisone;Prednisone plus exercise
141 Open Label Safety and Efficacy of Once Weekly Steroid in Patients With LGMD and Becker Muscular Dystrophy Active, not recruiting NCT04054375 Phase 2 Prednisone
142 A Phase II, Open-Label, Extension Study of NS-089/NCNP-02 in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT05135663 Phase 2 NS-089/NCNP-02
143 Open-Label Extension of the HOPE-2 Duchenne Muscular Dystrophy Trial Active, not recruiting NCT04428476 Phase 2
144 An Open Label Phase 2 Study of BBP-418 in Patients With Limb Girdle Muscular Dystrophy Type 2I (MLB-01-003) Active, not recruiting NCT04800874 Phase 2 BBP-418
145 A Phase 2 Open-label Study to Assess the Safety, Tolerability, and Efficacy of Viltolarsen in Ambulant and Non-Ambulant Boys With Duchenne Muscular Dystrophy (DMD) Compared to Natural History Controls Active, not recruiting NCT04956289 Phase 2 Viltolarsen
146 A Phase II, Long-term, Extension Study of DS-5141b in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT04433234 Phase 2 DS-5141b
147 Trial of Pamrevlumab (FG-3019), a Monoclonal Antibody to Connective Tissue Growth Factor, in Non-Ambulatory Subjects With Duchenne Muscular Dystrophy Active, not recruiting NCT02606136 Phase 2 Pamrevlumab
148 A Randomized, Controlled, Open-label, Single-ascending Dose, Phase I/II Study to Investigate the Safety and Tolerability, and Efficacy of Intravenous SGT-001 in Male Adolescents and Children With Duchenne Muscular Dystrophy Active, not recruiting NCT03368742 Phase 1, Phase 2
149 A 48-Week, Open Label, Study to Evaluate the Efficacy and Safety of Casimersen, Eteplirsen and Golodirsen in Subjects With Duchenne Muscular Dystrophy Carrying Eligible DMD Duplications Active, not recruiting NCT04179409 Phase 2 Casimersen;Eteplirsen;Golodirsen
150 Phase I/IIa Gene Transfer Clinical Trial for Duchenne Muscular Dystrophy Using rAAVrh74.MCK.GALGT2 Active, not recruiting NCT03333590 Phase 1, Phase 2
151 An Open-Label Pilot Study of Losmapimod to Evaluate the Safety, Tolerability, and Changes in Biomarker and Clinical Outcome Assessments in Subjects With Facioscapulohumeral Muscular Dystrophy 1 (FSHD1) With Extension Active, not recruiting NCT04004000 Phase 2 Losmapimod
152 Phase I/IIa Systemic Gene Delivery Clinical Trial of scAAV9.U7.ACCA for Exon 2 Duplication-Associated Duchenne Muscular Dystrophy Active, not recruiting NCT04240314 Phase 1, Phase 2
153 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial for Duchenne Muscular Dystrophy Using SRP-9001 Active, not recruiting NCT03769116 Phase 2
154 Systemic Gene Delivery Phase I/IIa Clinical Trial for Duchenne Muscular Dystrophy Using rAAVrh74.MHCK7.Micro-dystrophin (microDys-IV-001) Active, not recruiting NCT03375164 Phase 1, Phase 2
155 A Randomized, Double-Blind, Placebo-Controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single and Multiple-Doses of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) Patients Active, not recruiting NCT05027269 Phase 1, Phase 2 AOC 1001;Placebo
156 A Single-Center, Open-Label, Systemic Gene Delivery Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9003 Administered by Systemic Infusion in Subjects With LGMD2E (β-Sarcoglycan Deficiency) Active, not recruiting NCT03652259 Phase 1, Phase 2
157 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) With Open-Label Extension (OLE) Enrolling by invitation NCT04264442 Phase 2 Losmapimod
158 A Phase 2 Extension Study to Evaluate the Long-Term Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) Patients Enrolling by invitation NCT05479981 Phase 2 Placebo;AOC 1001
159 A Phase 1/2, Double-blind, Randomized, Placebo-controlled, Dose-escalation Study to Evaluate the Safety of LION-101 Gene Therapy in Adult Subjects (18-65 Years) With Genetic Confirmation of Limb Girdle Muscular Dystrophy Type 2I/R9 (LGMD2I/R9) - Part 1 Not yet recruiting NCT05230459 Phase 1, Phase 2
160 A Phase II, Multicenter, Randomized, Placebo-Controlled, Double-Blind Study to Evaluate the Pharmacodynamics, Safety, Tolerability, Pharmacokinetics, and Efficacy of RO7204239 in Participants With Facioscapulohumeral Muscular Dystrophy Not yet recruiting NCT05548556 Phase 2 Placebo;RO7204239
161 A 2-part Phase 2 Study of Safety, Pharmacokinetics and Biomarkers in Children With Duchenne Muscular Dystrophy Including a Randomized, Double-Blind, Placebo-Controlled Part A, Followed by an Open-Label Part B Not yet recruiting NCT05540860 Phase 2 EDG-5506 Dose 1;EDG-5506 Dose 2;EDG-5506 Dose 3;Placebo
162 Phase 1/2a First-in-human Trial Evaluating Autologous Gene-edited Muscle Stem Cells in Limb Girdle Muscular Dystrophies (GenPHSats-bASKet) Not yet recruiting NCT05588401 Phase 1, Phase 2
163 An Exploratory, Open-label Study to Assess the Effect of P-188 NF (Carmeseal-MD) on Safety, on Respiratory and Cardiac Dysfunction and on Upper Limb Strength in Non-ambulatory Patients With Duchenne Muscular Dystrophy (DMD) Suspended NCT03558958 Phase 2 P-188 NF
164 Phase 2 Clinical Trial of Sildenafil for Cardiac Dysfunction in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Terminated NCT01168908 Phase 2 Sildenafil
165 A Phase 2B Extension Study of PTC124 in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy Terminated NCT00847379 Phase 2 Ataluren
166 A Phase 2a Study of Ataluren (PTC124) in Nonambulatory Patients With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy Terminated NCT01009294 Phase 2 Ataluren;Chronic Corticosteroid Therapy
167 An Open-Label Extension Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of ACE-031 (ActRIIB-IgG1) in Subjects With Duchenne Muscular Dystrophy Terminated NCT01239758 Phase 2
168 A Phase 2a Extension Study of PTC124 in Subjects With Nonsense-Mutation-Mediated Duchenne Muscular Dystrophy Terminated NCT00759876 Phase 2 Ataluren
169 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy Terminated NCT02927080 Phase 2 ACE-083;ACE-083 or placebo
170 A Multi Center, Multi National, Open Label, Extension Study to Evaluate the Long-term Efficacy and Safety of BMN 044 (PRO044) in Subjects With Duchenne Muscular Dystrophy Terminated NCT02958202 Phase 2 BMN 044 IV 6 mg/kg;BMN 044 IV 9 mg/kg;BMN 044 SC 6 mg/kg
171 A MULTICENTER, OPEN-LABEL EXTENSION STUDY TO EVALUATE THE LONG TERM SAFETY OF PF-06252616 IN BOYS WITH DUCHENNE MUSCULAR DYSTROPHY Terminated NCT02907619 Phase 2
172 A Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of ACE-031 (ActRIIB-IgG1) in Subjects With Duchenne Muscular Dystrophy Terminated NCT01099761 Phase 2
173 Phaseout DMD: A Phase 2 Clinical Study to Assess the Activity and Safety of Utrophin Modulation With Ezutromid in Ambulatory Paediatric Male Subjects With Duchenne Muscular Dystrophy (SMT C11005) Terminated NCT02858362 Phase 2 Ezutromid
174 An Open Label Extension Study of HT-100 in Patients With Duchenne Muscular Dystrophy Who Have Completed Protocol HALO-DMD-01 Terminated NCT01978366 Phase 2 HT-100
175 A Phase 1b Open Label, Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of HT-100 in Patients With Duchenne Muscular Dystrophy Terminated NCT01847573 Phase 1, Phase 2 HT-100
176 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Terminated NCT03943290 Phase 2 ACE-083
177 A Phase IIb, Open-label Study to Assess the Efficacy, Safety, Pharmacodynamics and Pharmacokinetics of Multiple Subcutaneous Doses of PRO045 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01826474 Phase 1, Phase 2 PRO045, 0.15 mg/kg/week;PRO045, 1.0 mg/kg/week;PRO045, 3.0 mg/kg/week;PRO045, 6.0 mg/kg/week;PRO045, 9.0 mg/kg/week;PRO045, selected dose
178 An Open-Label Safety, Tolerability, and Efficacy Study of Eteplirsen in Patients With Duchenne Muscular Dystrophy Who Have Completed Study 4658-102 Terminated NCT03985878 Phase 2 Eteplirsen
179 An Open-Label Extension Study for Patients With Duchenne Muscular Dystrophy Who Participated in Studies of SRP-5051 Terminated NCT03675126 Phase 1, Phase 2 SRP-5051
180 A Phase I/II, Open-label, Dose Escalating With 48 Week Treatment Study to Assess the Safety and Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of BMN053 (Previously Known as PRO053) in Subjects With Duchenne Muscular Dystrophy. Terminated NCT01957059 Phase 1, Phase 2 Regimen Selection Phase Group 2;Regimen Selection Phase Group 3;Treatment Phase Group 4;Regimen Selection Phase Group 1 (COMPLETED);Dosing Extension
181 A Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess the Effect, Safety, Tolerability and Pharmacokinetics of Multiple Subcutaneous Doses of Drisapersen in Patients With Duchenne Muscular Dystrophy and to Assess the Potential for Intravenous Dosing as an Alternative Route of Administration Terminated NCT01910649 Phase 2 Drisapersen
182 A Multi-Site, Randomized, Placebo-Controlled, Double-Blind, Multiple Ascending Subcutaneous Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of RO7239361 (BMS-986089) in Ambulatory Boys With Duchenne Muscular Dystrophy Terminated NCT02515669 Phase 1, Phase 2 RO7239361;Placebo
183 A Phase II, Open Label, Extension Study to Assess the Effect of PRO044 in Patients With Duchenne Muscular Dystrophy Terminated NCT02329769 Phase 2 PRO044 SC 6 mg/kg;PRO044 IV 6 mg/kg;PRO044 IV 9 mg/kg
184 A PHASE 2 RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, MULTIPLE ASCENDING DOSE STUDY TO EVALUATE THE SAFETY, EFFICACY, PHARMACOKINETICS AND PHARMACODYNAMICS OF PF-06252616 IN AMBULATORY BOYS WITH DUCHENNE MUSCULAR DYSTROPHY Terminated NCT02310763 Phase 2 Placebo
185 A Multicenter, Randomized, Parallel Group, Double Blind, Multiple Dose, Placebo Controlled Study to Assess the Efficacy and Safety of MNK-1411 in Male Participants 4 to 8 Years of Age With Duchenne Muscular Dystrophy Terminated NCT03400852 Phase 2 MNK-1411
186 HT-100 Long-term Safety and Pharmacodynamics in Patients With DMD Who Have Completed Protocols HALO-DMD-01 and HALO-DMD-02 Terminated NCT02525302 Phase 2 HT-100
187 CINRG0513: A Trial of Chronotherapy of Corticosteroids in Duchenne Muscular Dystrophy Withdrawn NCT02036463 Phase 2 Prednisone;Placebo
188 Phase I Gene Transfer Clinical Trial for Duchenne Muscular Dystrophy Using rAAVrh74.MCK.GALGT2 Withdrawn NCT02704325 Phase 1, Phase 2
189 A Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Trial of Trehalose for the Treatment of Withdrawn NCT04226924 Phase 2 Trehalose
190 Dysphagia in Oculopharyngeal Muscular Dystrophy. Evaluation, Endoscopic Examination of Swallowing, Treatment and Long Term Follow up. Unknown status NCT01167439 Phase 1
191 Efficacy of Allogenic Mesenchymal Stem Cell Therapy in Ambulatory and Non-ambulatory Children With Duchenne Muscular Dystrophy - Phase 1-2 Unknown status NCT02484560 Phase 1 Biological: Umbilical Cord Based Allogenic Mesenchymal Stem Cell
192 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation to Manage or Treat Muscular Dystrophies. Unknown status NCT00674843 Phase 1
193 Safety and Feasibility of Transvenous Limb Perfusion With Normal Saline in Human Muscular Dystrophy Completed NCT00873782 Phase 1
194 Pilot Study: To Assess the Safety, Tolerability and Effects of L-Arginine on Muscles in Boys With Dystrophinopathy on Corticosteroids Completed NCT01388764 Phase 1 L-arginine
195 Gentamicin Treatment of Patients With Muscular Dystrophy Due to Nonsense Mutations in Dystrophin Completed NCT00005574 Phase 1 Gentamicin
196 A Multi-center Study to Evaluate the Pharmacokinetics of 21-Desacetyldeflazacort and the Safety of Deflazacort After Oral Administration of Deflazacort Tablets to Children and Adolescent Subjects With Duchenne Muscular Dystrophy Completed NCT02251600 Phase 1 Deflazacort
197 Exploratory Study of NS-065/NCNP-01 in Duchenne Muscular Dystrophy Completed NCT02081625 Phase 1 NS-065/NCNP-01
198 A Multicenter, Double-blind, Placebo-controlled, Phase 1 Study of WVE-210201 Administered Intravenously to Patients With Duchenne Muscular Dystrophy Completed NCT03508947 Phase 1 WVE-210201;Placebo
199 A Double-blind, Escalating Dose, Randomized, Placebo-controlled Study to Assess the Pharmacokinetics, Safety and Tolerability of Single Subcutaneous Injections of GSK2402968 in Non-ambulant Subjects With Duchenne Muscular Dystrophy Completed NCT01128855 Phase 1 3 mg/kg GSK2402968;6 mg/kg GSK2402968;9 mg/kg GSK2402968;12 mg/kg GSK2402968
200 Functional Muscle Ischemia and PDE5 Inhibition in Duchenne Muscular Dystrophy: Acute Dosing Study Completed NCT01580501 Phase 1 Tadalafil and Sildenafil
201 Phase I Clinical Intramuscular Gene Transfer of rAAV1.CMV.huFollistatin344 Trial to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis. Completed NCT01519349 Phase 1
202 A Phase I Study of Single and Multiple Doses of TAS-205 in Patients With Duchenne Muscular Dystrophy Completed NCT02246478 Phase 1 TAS-205;Placebo
203 A Six Month Randomized, Clinical Trial of Gentamicin in Duchenne Muscular Dystrophy Subjects With Stop Codon Mutations Completed NCT00451074 Phase 1 Gentamicin infusions twice a week for six months
204 Phase 1 Clinical Trial of rAAV2.5-CMV-mini-Dystrophin Gene Vector in Duchenne Muscular Dystrophy Completed NCT00428935 Phase 1
205 Phase I Gene Transfer of rAAV1.tMCK.Human-alpha-sarcoglycan for Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
206 A Phase 1, Open-label, Dose Escalation Study to Evaluate the Safety and Preliminary Efficacy of Orally Administered (+)-Epicatechin in Patients With Becker or Becker-like Muscular Dystrophy With Continued Ambulation Past 16 Years of Age Completed NCT04386304 Phase 1 (+)-Epicatechin
207 A Phase Ib, Open Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Multiple Ascending Oral Doses of Rimeporide in Patients With Duchenne Muscular Dystrophy Completed NCT02710591 Phase 1 Rimeporide
208 SMT C1100 - A Phase 1b, Open-label, Single and Multiple Oral Dose, Safety, Tolerability and Pharmacokinetic Study in Paediatric Patients With Duchenne Muscular Dystrophy Completed NCT02056808 Phase 1 SMT C1100
209 Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO) Completed NCT01805024 Phase 1 Omigapil
210 Phase I Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
211 Open Pilot Trial to Test the Safety and Tolerability of Flavocoxid in Duchenne Muscular Dystrophy Completed NCT01335295 Phase 1 Flavocoxid
212 Allogeneic Transplantation of Human Umbilical Cord Mesenchymal Stem Cells (UC-MSC) for a Single Male Patient With Duchenne Muscular Dystrophy (DMD) Completed NCT02235844 Phase 1
213 A Phase 1, Randomized, Placebo-Controlled, Double-blind, Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and PK of EDG-5506 in Adult Healthy Volunteers and Adults With Becker Muscular Dystrophy Completed NCT04585464 Phase 1 EDG-5506;Placebo
214 A Randomized, Double-Blind, Placebo-Controlled, Dose-Titration, Safety, Tolerability, and Pharmacokinetics Study Followed by an Open-Label Safety and Efficacy Evaluation of SRP-4045 in Advanced-Stage Patients With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping Completed NCT02530905 Phase 1 SRP-4045;Placebo
215 Phase I Gene Transfer Clinical Trial for Duchenne Muscular Dystrophy Using rAAVrh74.MCK.Micro-dystrophin Completed NCT02376816 Phase 1
216 A Phase 1b Placebo-controlled, Multi-centre, Randomized, Double-blind Dose Escalation Study to Evaluate the Pharmacokinetics (PK) and Safety of SMT C1100 in Patients With Duchenne Muscular Dystrophy (DMD) Who Follow a Balanced Diet Completed NCT02383511 Phase 1 SMT C1100
217 An Open-Label, Multi-Center, Long-Term Extension Study to Evaluate the Safety and Tolerability of Orally Administrated Deflazacort in Children and Adolescent Subjects With Duchenne Muscular Dystrophy Completed NCT02295748 Phase 1 Deflazacort
218 Sodium Nitrate for Muscular Dystrophy Completed NCT02434627 Phase 1 Sodium Nitrate
219 A Phase 1 Trial to Evaluate the Safety, Tolerability, and Pharmacokinetics of a Single Dose of SRP-5051 in Patients With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping Treatment Completed NCT03375255 Phase 1 SRP-5051
220 Improved Muscle Function in Duchenne Muscular Dystrophy Through L-Arginine and Metformin Completed NCT02516085 Phase 1 Metformin;L-Arginine
221 Open, Randomized, 3 Period Cross-over Design, in Healthy Volunteers to Compare the Pharmacokinetics Profiles of 3 Treatments: ISO 20, IBU 200 and IBU Plus ISO Combinations (200 + 20) Administered Per os as Single Doses Completed NCT01478022 Phase 1 Isosorbide Dinitrate;Ibuprofen
222 A Randomized, Partially Double-Blind, Four-Period, Four-Treatment, Crossover Study Investigating the Placebo-Corrected Effects of a Therapeutic Dose (100 mg) and a Supratherapeutic Dose (300 mg) of ITF2357 (Givinostat) and Moxifloxacin on QT/QTC Interval in Healthy Male and Female Subjects Completed NCT04821063 Phase 1 ITF2357 10 mg/mL;Placebo;Moxifloxacin Hydrochloride
223 Sodium Nitrate to Improve Blood Flow Completed NCT02847975 Phase 1
224 A Dose Block-randomized, Double-blind, Placebo-controlled and Dose-escalation Phase I Clinical Trial to Evaluate Safety of BLS-M22 Following Single/Multiple Oral Administration in Healthy Adult Volunteers Completed NCT03789734 Phase 1
225 Treatment Effect of Tamoxifen on Patients With DMD Completed NCT02835079 Phase 1 Tamoxifen
226 Study of Testosterone and rHGH in FSHD (STARFISH): A Proof-of-Concept Study Completed NCT03123913 Phase 1 Testosterone Enanthate;Somatropin
227 A Three-Part FTIH Study to Evaluate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single and Repeat Oral Doses of GSK3439171A, in a Randomized, Double-Blind (Sponsor Unblinded), Placebo-Controlled, Dose Escalation Study and to Evaluate the Effect of Food on a Single Oral Dose of GSK3439171A in Healthy Adult Participants Completed NCT03627494 Phase 1 GSK3439171A;Placebo
228 A Phase 1 Study to Assess the Feasibility of Non-invasive Dried Blood Sampling for Assessment of EDG-5506 Concentrations Completed NCT05492734 Phase 1 EDG-5506
229 Efficacy and the Safety of Granulocyte Colony-stimulating Factor Treatment in Children and Adolescents With Muscular Dystrophy: An Open Study Recruiting NCT02814110 Phase 1 Granulocyte colony-stimulating factor (Filgrastim)
230 A Randomized, Double Blind, Placebo-Controlled Phase 1b Study With Open-Label Extension to Assess the Safety, Tolerability and Preliminary Efficacy of ASP0367 (MA-0211) in Pediatric Male Patients With Duchenne Muscular Dystrophy (DMD) Recruiting NCT04184882 Phase 1 Bocidelpar;Placebo
231 Open-label, Dose-escalation, Phase 1 Clinical Trial to Determine the Safety and Dose of EN001 in Patients With Duchenne Muscular Dystrophy(DMD) Recruiting NCT05338099 Phase 1 EN001
232 A Phase 1b, Open-label Study of the Safety and Pharmacokinetics of EDG-5506 in Adults With Becker Muscular Dystrophy Active, not recruiting NCT05160415 Phase 1 EDG-5506
233 A PHASE 1B MULTICENTER, OPEN-LABEL, SINGLE ASCENDING DOSE STUDY TO EVALUATE THE SAFETY AND TOLERABILITY OF PF-06939926 IN AMBULATORY AND NON-AMBULATORY SUBJECTS WITH DUCHENNE MUSCULAR DYSTROPHY Active, not recruiting NCT03362502 Phase 1
234 Treatment of a Single Patient With CRD-TMH-001 Active, not recruiting NCT05514249 Phase 1 CRD-TMH-001
235 An Open-Label, Systemic Gene Delivery Study Using Commercial Process Material to Evaluate the Safety of and Expression From SRP-9001 in Subjects With Duchenne Muscular Dystrophy (ENDEAVOR) Enrolling by invitation NCT04626674 Phase 1
236 A Randomized Open Label Trial of Spironolactone Versus Prednisolone in Corticosteroid-naïve Boys With DMD Terminated NCT03777319 Phase 1 Spironolactone;Prednisolone
237 Intrathecal Autologous Mononuclear Cell Therapy for Limb Girdle Muscular Dystrophy Withdrawn NCT02245711 Phase 1
238 The Role of Autologous Bone Marrow Mononuclear Cell Therapy in Duchenne Muscular Dystrophy Withdrawn NCT02241434 Phase 1
239 The Role of Cell Therapy in Modifying the Course of Limb Girdle Muscular Dystrophy- A Longitudinal 5-year Study Withdrawn NCT02050776 Phase 1
240 Role of Autologous Mononuclear Cell Therapy in Muscular Dystrophy Withdrawn NCT02241928 Phase 1
241 Global Registry for COL6-related Dystrophies Unknown status NCT04020159
242 Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) Unknown status NCT02972580
243 Quantification of Muscle Specific microRNAs in the Serum of Patients With Duchenne Muscular Dystrophy (DMD) and Becker (BMD) : Evaluation of the Inters-est of These Biomarkers in Patients Care Unknown status NCT02109692
244 Multicenter Cohort Study on Duchenne Muscular Dystrophy Cardiomyopathy Unknown status NCT03443115
245 Study of Clinical and Radiological Changes in Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping Unknown status NCT01385917
246 PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping Unknown status NCT01539772
247 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Unknown status NCT03492346
248 The Validation Process for Confirmation of the French Version of the Pediatric Quality of Life Inventory (PedsQLTM) 3.0 Duchenne Muscular Dystrophy Module. Unknown status NCT03513367
249 Investigating The Effects of Fear of Falling on Physical Performance and Quality of Life in Children With Duchenne Muscular Dystrophy Unknown status NCT03507530
250 Computerized Facial Recognition for Automated Diagnosis of the Facio-Scapulo-Humeral Muscular Dystrophy (FSMHD): Pilot Study Unknown status NCT04377217
251 Longitudinal Study of the Relationship Between Impairment, Activity Limitation, Participation and Quality of Life in Persons With Confirmed Duchenne Muscular Dystrophy (DMD) Unknown status NCT00468832
252 The Cardiovascular Genetic and Therapeutic Implications of Muscular Dystrophy Unknown status NCT00518817
253 The UK Facioscapulohumeral Muscular Dystrophy Patient Registry Unknown status NCT04001582
254 The Evaluation of Muscle Activation in Climbing up Stairs Activity in Children With Duchenne Muscular Dystrophy Unknown status NCT04287582
255 Prospective Cohort Study of Patients With Mutations in the Dystrophin Gene (X Linked Dilated Cardiomyopathy and Becker Muscular Dystrophy) Unknown status NCT02020954
256 Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction : Potential Links and Targeted Pharmacotherapy in Duchenne Muscular Dystrophy (DMD). Unknown status NCT01823783
257 Effect of Aerobic Training in Patients With Oculopharyngeal Muscular Dystrophy Unknown status NCT02158156
258 Prognstic Factors Affecting Duchenne Muscular Dystrophy Unknown status NCT03372655
259 Determining Biomechanical and Morphological Factors That Affect Children With Duchenne Muscular Dystrophy (DMD) Who Loss of the Ability to Walk Unknown status NCT02472990
260 Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping Unknown status NCT01772043
261 Cardiac Involvement in Patients With Duchenne/Becker Muscular Dystrophy Unknown status NCT02470962
262 Effect of Aquatic Therapy on Pulmonary Functions in Patients With Muscular Dystrophy Unknown status NCT04574934
263 Performance of Upper Limb (PUL) in Duchenne Muscular Dystrophy Unknown status NCT02436720
264 National Registry for Egyptian Pediatric Neuromuscular Diseases Unknown status NCT02124616
265 Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2 Unknown status NCT02032979
266 Using Normalization Process Theory to Evaluate Providing Pediatric Palliative Care at End-of-Life as Web-Based Training Intervention for Nurses: Unknown status NCT04461561
267 The Safety, Efficacy and Tolerability of Remote Ischemic Preconditioning as a Therapy to DMD Unknown status NCT02614820
268 WREX Outcome Study Unknown status NCT02218593
269 Developing Tools for Assessing the Natural History of Ambulant and Non-ambulant DMD Individuals to Assist in Antisense-oligomer Clinical Trials Unknown status NCT02780492
270 Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2 Unknown status NCT01970735
271 Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD Unknown status NCT02541292
272 Natural History of Cardiac and Respiratory Function in Patients With Muscular Dystrophies on Home Mechanical Ventilation Unknown status NCT02501083
273 Prognostic Factors, Morbidity, Mortality and Long Term Survival in Patients With Neuromuscular Disorders Admitted in Intensive Care Unit Unknown status NCT02685215
274 Validity and Reliability of Turkish Version of Turkish Version of The Measure of Processes of Care (MPOC 56-20- SP) Unknown status NCT03508583
275 Ablelite Pediatric Device Clinical Study Unknown status NCT04308447
276 Diaphragm Ultrasound in Neuromuscular Disorders Unknown status NCT04045158
277 An Open Label, Expanded Access Protocol Intended to Provide Treatment With MP-104 (Deflazacort) to U.S. Children, Adolescents, and/or Adults With Duchenne Muscular Dystrophy Approved for marketing NCT02592941 Deflazacort
278 The Expanded Access Use of Viltolarsen for the Treatment of Duchenne Muscular Dystrophy (DMD) Amenable to Exon 53 Skipping Approved for marketing NCT04337112 viltolarsen
279 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
280 PITT1109: Cardiac Outcome Measures in Children With Muscular Dystrophy Completed NCT01066455
281 PITT0110 - Cardiac Magnetic Resonance: A Parallel Protocol to Cardiac Outcome Measures in Children With Muscular Dystrophy Completed NCT01081080
282 USEFUL: User-centred Assistive SystEm for Arm Functions in neUromuscuLar Subjects Completed NCT03127241
283 Muscle MRI Study of Patients With Becker Muscular Dystrophy and Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
284 Effect of Eicosapentaenoic Fatty Acid (EPA) and Docosahexaenoic Fatty Acids (DHA) Supplementation on the Inflammation State and Metabolic Disorders in Patients With Duchenne Muscular Dystrophy or Becker Muscular Dystrophy Completed NCT01826422
285 Development of a New Instrument to Evaluate Gait Characteristics of Individuals With Duchenne Muscular Dystrophy: Gait Assessment Scale for Duchenne Muscular Dystrophy, and Its Validity and Reliability Completed NCT05244395
286 Non-invasive Imaging of Muscle Structure in Duchenne Muscular Dystrophy as Diagnostic and Progression Marker Using Multispectral Optoacoustic Tomography Completed NCT03490214
287 Evaluation of a Method to Support Unstable Shoulders by Means of a Textile Scapula Orthosis Completed NCT04154098
288 Electrical Impedance Myography and Ultrasound as Biomarkers of Duchenne Muscular Dystrophy Completed NCT01491555
289 Regression of Hamstring Flexibility and Performance in Children With Duchenne Muscular Dystrophy Completed NCT03589612
290 Effect of Trunk and Lower Extremity Muscle Strength on Hamstring Flexibility in Children With Duchenne Muscular Dystrophy Completed NCT03589573
291 The Effect of Kinesiology Taping on Balance in Duchenne Muscular Dystrophy Completed NCT03541070
292 Kinesiology Taping in Duchenne Muscular Dystrophy: Effects on Performance, Gait Characteristics, and Energy Consumption Completed NCT03529240
293 Investigation Of Factors Affecting Hand Functions in Nonambulatory Patients With Duchenne Muscular Dystrophy Completed NCT03521271
294 Early Treatment With Aldosterone Antagonism Attenuates Cardiomyopathy in Duchenne Muscular Dystrophy Completed NCT01521546 eplerenone;placebo
295 Double Push Acoustic Radiation Force (DP ARF) Ultrasound for Monitoring Muscle Degeneration in Duchenne Muscular Dystrophy Completed NCT01506518
296 A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy Completed NCT01437345
297 Determination of Accurate Screening Tools for Dysphagia in Oculopharyngeal Muscular Dystrophy Completed NCT02877784
298 The Comparison of Pulmonary and Upper Extremity Functions Between Children With Duchenne Muscular Dystrophy and Healthy Peers Completed NCT03552874
299 Lower Limb Flexibility in Duchenne Muscular Dystrophy: Effects on Functional Performance Completed NCT03534349
300 Motor Learning From Virtual to Natural Environments in Individuals With Duchenne Muscular Dystrophy Completed NCT03002298
301 Characterization of Heart Rate Variability in Individuals With Duchenne Muscular Dystrophy - Influence of Corticosteroids and Betablockers Completed NCT04740554
302 Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy Patients Completed NCT00821548
303 An Exploratory, Non-interventional Study to Biotype Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Controls Using Digital Technologies Completed NCT04999735
304 The PTC124 (Ataluren) Clinical Trial for Duchenne Muscular Dystrophy: Exploration of the Experiences of Parents, Clinician Researchers, and the Industry Sponsor Completed NCT01182324
305 Biomarker for Duchenne Muscular Dystrophy: An International, Multicenter, Observational, Longitudinal Protocol Completed NCT02994030
306 The Effects of Trunk Exercises on Upper Extremity and Respiratory Functions in Duchenne Muscular Dystrophy Completed NCT04669847
307 A Phase I, Multi-Center, Controlled, Prospective Correlative Study of Electrical Impedance Myography in Males With Duchenne Muscular Dystrophy and In Healthy Males Completed NCT01523964
308 Evaluation of Skeletal Muscle, Cardiac, and Diaphragm Imaging Biomarkers for GSK2402968 Effects in Ambulatory Boys With Duchenne Muscular Dystrophy Completed NCT01451281
309 Examination of Lower Urinary System Symptoms and Related Factors in Children With Duchenne Muscular Dystrophy Completed NCT05464446
310 Myocardial Involvement in Carriers of Duchenne Muscular Dystrophy: An MRI-study Completed NCT01712152
311 Research of Biomarkers for Disease Diagnosis, Disease Monitoring and Therapeutic Treatment Response in Duchenne Muscular Dystrophy Patients Completed NCT01380964
312 Clinical Outcomes Validation in Non Ambulatory and Young Boys/Men With Duchenne Muscular Dystrophy (DMD) Completed NCT01098708
313 A Registry of Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
314 Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for Duchenne Muscular Dystrophy (DMD) Completed NCT02834650
315 Compare Efficacy of the Angiotensin Converting Enzyme Inhibitor (ACEi) Lisinopril With Angiotensin II Receptor Antagonist Losartan (ARB) for the Cardiomyopathy of Duchenne Muscular Dystrophy Completed NCT01982695 Losartan;Lisinopril
316 A Wearable Device for Breathing Frequency Monitoring: a Pilot Study on Patients With Muscular Dystrophy Completed NCT04313595
317 Examination of the Relationship Between Foot - Body Posture and Balance and Gait in Duchenne Muscular Dystrophy Completed NCT04353167
318 Disease Progression in Facioscapulohumeral Muscular Dystrophy - 1 Year MRI Follow-up Completed NCT02159612
319 Biomechanical Analysis of Gait in Individuals With Duchenne Muscular Dystrophy Completed NCT00312247
320 Evaluating the Impact of Aerobic Exercise in Boys With Duchenne Muscular Dystrophy (DMD) Completed NCT03319030
321 LARA: Use of JACO2 Controlled by Joystick or by Voice Control System, in Muscular Dystrophy Completed NCT04313049
322 LAMA2 Retrospective Review of Medical Charts in Infants & Toddlers With LAMA2-Congenital Muscular Dystrophy Completed NCT04299321
323 Quantitative Muscle Ultrasound as a Monitoring Tool of Disease Progression in Children With Inflammatory Myositis and Duchenne Muscular Dystrophy Completed NCT03786913
324 Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy Completed NCT00457912
325 Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT00004685 albuterol
326 Digestive Events in Duchenne Muscular Dystrophy Patients Completed NCT04384354
327 Where Does Hope Fit In? The Relationship Between Hope, Uncertainty, and Coping Efficacy in Mothers of Children With Duchenne/Becker Muscular Dystrophy Completed NCT02194725
328 High Intensity Interval Training in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT02159963
329 The Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy Completed NCT02153970
330 Duchenne Muscular Dystrophy in Norway. Genotype/Phenotype in Patients Younger Than 18 Years, With a Main Focus on Growth, Puberty, Bone Health and Quality of Life. Completed NCT01963897
331 THE EFFECT OF WHOLE BODY VIBRATION THERAPY UPON MUSCLE STRENGTH & FUNCTION IN AMBULATORY BOYS WITH DUCHENNE MUSCULAR DYSTROPHY Completed NCT01954940
332 Analysis of Interaction of Different Devices in a Virtual Reality Task in Patients With Duchenne Muscular Dystrophy Completed NCT02891434
333 Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced. Completed NCT01990976
334 Observational Study of Clinical Outcomes for Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy Completed NCT02571205 Sustanon (testosterone)
335 Congenital Muscular Dystrophy (CMD) and the Feasibility of Hyperinsufflation Therapy to Slow Rate of Decline in Lung Volume Completed NCT01836627
336 Physical Activity Level of Norwegian Boys With Duchenne Muscular Dystrophy - a Cross Sectional Study Completed NCT03947112
337 The Burden of Access in Duchenne Muscular Dystrophy in the US. A Qualitative Assessment of the Impact of Access on the Lives of Families Affected by DMD and Their Healthcare Providers. Completed NCT03951675
338 Functional Muscle Ischemia and PDE5A Inhibition in Duchenne Muscular Dystrophy Completed NCT01359670 Early Phase 1 Tadalafil;Sildenafil
339 Assessment of Cardiopulmonary Function in Duchenne Muscular Dystrophy Completed NCT02195999
340 Profile of Mother-caregivers of Children With Duchenne Muscular Dystrophy Completed NCT01921374
341 Constipation and Gut Transit in Duchenne Muscular Dystrophy Patients Completed NCT01890616
342 Double-blind, Randomized, Placebo-controlled Study of VECTTOR Treatment for Duchenne Muscular Dystrophy Completed NCT01874275
343 Longitudinal Assessment and Genetic Understanding of Limb-Girdle Muscular Dystrophy Completed NCT01783509
344 Sedation During Muscle Biopsy in Patients With Duchenne Muscular Dystrophy Completed NCT01645098 Ketamine;Dexmedetomidine
345 The Contribution of Heels for Walking Quality Among Children With Muscular Dystrophy Completed NCT01638169
346 Low-level Mechanical Vibration, Bone Density, Bone Resorption and Muscular Strength in Ambulant Children Affected by Duchenne Muscular Dystrophy Completed NCT05281120
347 Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-sectional Study Completed NCT02413190
348 Remote Physiotherapy Application to Protect Physical Health in Duchenne Muscular Dystrophy Completed NCT05305976
349 Computational Task in Duchenne Muscular Dystrophy: Involvement of Cardiac Autonomic Regulation. Completed NCT04607824
350 The Effect of Protein Supplementation Doing Regular Exercise in Patients With Facioscapulohumeral Muscular Dystrophy - a Blinded RCT Study Completed NCT01618331
351 Quality and Independence of Gait Classification Scale for Duchenne Muscular Dystrophy (QIGS-DMD): The Development, Validity and Reliability Completed NCT05564962
352 Development of a Strength Training Protocol in Duchenne Muscular Dystrophy Completed NCT02421523
353 Reliability and Validity of the Turkish Version of the Upper Limb Short Questionnaire in Duchenne Muscular Dystrophy Completed NCT05274555
354 Effects of Parental Influence on Physical Activity Level And Participation in Children With Duchenne Muscular Dystrophy Completed NCT05209087
355 Evaluation of Myocardial Function by Two Dimensional Speckle Tracking Echocardiography in Children With Duchenne Muscular Dystrophy Versus Healthy Children: a Comparative Transversal Multicenter Study Completed NCT02418338
356 A Randomized Exercise Trial for Wheelchair Users Completed NCT00866112
357 Innovative Ultrasound Technology in Neuromuscular Disease Completed NCT02104921
358 Pilot Study of Cough Peak Flow And Airway Clearance in Pediatric Patients With Neuromuscular Disease Completed NCT02034305
359 Comparative Study of Clinical Endpoint in DMD: HHM vs. CQMS Completed NCT01125709
360 Acute Electrocorticography (ECoG) Direct Brain Interface for Individuals With Upper Limb Paralysis Completed NCT01393444
361 Nociceptive Pain in Neuromuscular Disorders - Low Interventional Pilot Study to Assess Musculoskeletal Pain in Neuromuscular Disorders (NMD) Completed NCT04907162
362 The Effects of Upper Limb Rehabilitation Program on Function, Balance and Walking in Patients With Fascioscapulohumeral Dystrophy Completed NCT05178706
363 Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus) Completed NCT02625662
364 Exercise and Myopathies. Physical Training Introduction in Lifestyle of Facioscapulohumeral Dystrophy Patients: Functional, Tissue and Quality of Life Benefits. Completed NCT01116570
365 Your Voice; Impact of DMD. A Qualitative Assessment of the Impact of DMD on the Lives of Families Completed NCT03680365
366 An Exploratory Study of Skeletal Muscle Abnormalities in Patients With Mutations in Alpha-Tropomyosin and PABP2 Genes Completed NCT00001871
367 Establishment of Phenotypic Profiles of Muscular Dystrophies for Understanding Disease Progression, Diagnosis and Development of New Therapies Completed NCT01950897
368 Optical Imaging of Dystrophic and Damaged Muscle Completed NCT02168114
369 The Effect on Muscle Architecture Properties and Motor Functions of Aerobic Training in Children With Duchenne Muscle Dystrophy Completed NCT04173234
370 Investigation of Parents' Anxiety Level and Health Related Quality of Life in Different Types of Physical Disabilities Completed NCT04035967
371 Myotonic Dystrophy:Muscle Wasting and Altered Metabolism Completed NCT00004769
372 Project Enhance for Adults Aging With Long-Term Physical Disability Completed NCT02815878
373 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
374 GDF-15 as a Biomarker for Mitochondrial Disease Completed NCT02745938
375 Arm Cycling in Facioscapulohumeral Dystrophy (FSHD) Patients Completed NCT04267354
376 Rasch-analysis of Clinical Severity in FSHD Completed NCT02766985
377 Prospective Study for 24-months of Physical Training Introduced in Lifestyle of Patients With Facioscapulohumeral Dystrophy : Tolerance, Sustainability and Efficiency of Unsupervised Training Program. Completed NCT01689480
378 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
379 Outcomes of Ultrasound-guided Versus Blind Core Muscle Biopsy Completed NCT01790178
380 Fedt og Sukkerstofskiftet Under Faste Hos Patienter Med Lav Muskelmasse. Completed NCT03970135
381 Studies of Patients With Skin Disease, Patients With Neurological Degenerations, and Normal Volunteers Completed NCT00001164
382 Optimum Insufflation Capacity and Peak Cough Flow Augmentation in Patients With Neuromuscular Disease Completed NCT01981915
383 A Peer E-mentoring Intervention to Improve Transition to Employment for Youth With Physical Disabilities Completed NCT02522507
384 Effects of Standing on Non-Ambulatory Children With Spinal Muscular Atrophy Completed NCT02341053
385 Effects of Antioxidants Supplementation on Muscular Function of Patients Affected by Facioscapulohumeral Dystrophy (FSHD) Completed NCT01596803
386 Awareness Levels of Caregivers of Disabled Children About Children's Illness, Physiotherapy and Sports Activities Completed NCT05228405
387 Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions Completed NCT02428673
388 A Device for Rapid, Painless, Bedside Muscle Evaluation of Children Completed NCT02340923
389 The Effectiveness of Participation-focused Interventions on Body Functions of Youth With Physical Disabilities: An Interrupted Time Series Design Completed NCT03851107
390 Development of a New Scale of Quality of Life, Specific of Neuro Muscular Diseases and More Specifically of Steinert Disease, by the Rasch Model Methods. Completed NCT02895763
391 Studio Monocentrico in Doppio Cieco Randomizzato Dell'Effetto di Una Miscela di Flavonoidi ed Acidi Grassi Naturali in Pazienti Affetti da Distrofia Muscolare Completed NCT03317171
392 Clinical Trials of Albuterol and Oxandrolone in FSH Dystrophy Completed NCT00027391 Albuterol;Oxandrolone
393 Functional and Cellular Benefits of Aerobic Exercise in Myotonic Dystrophy Type 1 Patients Completed NCT04187482
394 Psychological Treatment of Disability-Related Pain: Efficacy and Mechanisms Completed NCT01800604
395 A Pilot Study to Assess Transmembrane Electromyography (TM-EMG) for the Assessment of Neuromuscular Function in the Oropharynx Completed NCT03986671
396 Wearability, Saefty and Usability Assessment for the Upper Limb Exoskeleton BRIDGE/EMPATIA Completed NCT03951844
397 COVID-19 Pandemic From the Perspective of Parents of Disabled Children Completed NCT04525742
398 The Effect of a Bike Ergometer Training Program in Patients With Bethlem Myopathy Completed NCT01895283
399 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Recruiting NCT01403402
400 Biomarker Development for Muscular Dystrophies Recruiting NCT05019625
401 Schulze Muscular Dystrophy Ability Clinical Study Recruiting NCT05409079
402 Limb-Girdle Muscular Dystrophy Type 2I in Norway - a Cohort Study Recruiting NCT03930628
403 Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members Recruiting NCT00390104
404 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108
405 Defining Endpoints in Becker Muscular Dystrophy Recruiting NCT05257473
406 Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5 and WP6) Part 2: a Neurobehavioural and MRI Study Recruiting NCT04668716
407 Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5) Part 1: a Multicentre Online Phenotyping and Neurobehavioural Data Collection Study Recruiting NCT04583917
408 Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy Recruiting NCT01484678
409 The Duchenne Registry: An International, Patient-Report Registry for Individuals With Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network) Recruiting NCT02069756
410 Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E Recruiting NCT03488784
411 CureDuchenne Link™: A Resource to Support Research Studies in Duchenne and Becker Muscular Dystrophy (DMD/BMD) Recruiting NCT04972604
412 Global Fukutin-Related Protein Registry Recruiting NCT04001595
413 A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives Recruiting NCT01931644
414 Muscular Dystrophy Translational Research Program Neuromuscular Research Biobank Recruiting NCT05434572
415 Pilot Study of Cardiac Magnetic Resonance in Patients With Muscular Dystrophy Recruiting NCT02921321
416 Extracellular RNA Biomarkers of Duchenne Muscular Dystrophy Recruiting NCT05016908
417 Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5) Recruiting NCT04475926
418 Assessing the Frequency and Experience of Bullying or Peer Victimization in Children With Muscular Dystrophy and Congenital Myopathies Recruiting NCT04733976
419 Prevention of Scoliosis in Patients With Duchenne Muscular Dystrophy Using Portable Seat Device Devised to Maintain Lumbar Lordosis : 5 Year Follow up Study Recruiting NCT03611244
420 Characterization and Identification of Motor Parameters Using Instrumental Assessment in Patients With Limb Girdle Muscular Dystrophy Recruiting NCT04772027
421 A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Type 1 Recruiting NCT04369209
422 A Registered Cohort Study on Duchenne Muscular Dystrophy Recruiting NCT04012671
423 Cycle Exercise in Wheelchair Users With Muscular Dystrophy or Cerebral Palsy Recruiting NCT04677010
424 Wearable Technology to Assess Gait Function in Spinal Muscle Atrophy and Duchenne Muscular Dystrophy Recruiting NCT04193085
425 Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy Recruiting NCT05280730
426 Sleep Health Dysfunction and the Use of a Transdiagnostic Sleep Intervention in Duchenne Muscular Dystrophy Recruiting NCT04529707
427 Understanding Control and Mechanisms of Shoulder Instability in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Recruiting NCT05239520
428 E-monitoring of Pulmonary Function in Patients With Duchenne Muscular Dystrophy Undergoing Respiratory Rehabilitation at Home" Recruiting NCT05516745
429 Effectiveness of a Multimodal Physiotherapy Program With Virtual Reality Glasses in Duchenne and Becker. Recruiting NCT03879304
430 Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD) Recruiting NCT05102916
431 Clinical and Molecular Manifestations of Inherited Neurological Disorders Recruiting NCT00004568
432 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883
433 Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases. Recruiting NCT00138931
434 Evaluating an Extension Assist Knee Ankle Foot Orthosis to Improve Gait in Children With Movement Disorders Recruiting NCT01961557
435 The Feasibility of Virtual Reality in Children With Neuromuscular Disease and the Effectiveness of Virtual Reality and Biofeedback Training on Functional Levels of Children With Neuromuscular Disease Recruiting NCT03689660
436 Clinical Trial Readiness for the Dystroglycanopathies Recruiting NCT00313677
437 Clinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study Recruiting NCT04038138
438 A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 5 to 9 Years Recruiting NCT03882827
439 Pathology Analysis of OPMD Patient Myotomies Recruiting NCT03874910
440 MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants Recruiting NCT05102799
441 GRASP LGMD Defining Clinical Endpoints in LGMD Recruiting NCT03981289
442 Characterization of the Postural Habits of Wheelchair Users in an Ecological Situation and Analysis of the Acceptability of International Recommendations in the Prevention of Pressure Sores Risk by Using a Connected Textile Sensor Integrating an Artificial Intelligence Algorithm Recruiting NCT04335942
443 BrainGate2: Feasibility Study of an Intracortical Neural Interface System for Persons With Tetraplegia Recruiting NCT00912041
444 Investigational Use of Neuromuscular Ultrasound Recruiting NCT05237973
445 Limb-Girdle Video Assessment Concept Elicitation and Feasibility Study Recruiting NCT05528757
446 Clinical and Multi-omics Cross-phenotyping of Patients With Autoimmune and Auto-inflammatory Diseases Recruiting NCT02466217
447 Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort Recruiting NCT05295277
448 Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases Recruiting NCT02532244
449 Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD) Recruiting NCT04635891
450 Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies) Recruiting NCT03058185
451 The Natural History of Patients With Congenital Muscular Dystrophies Due to Mutations in the SELENON or LAMA2 Genes: Working Towards Trial-readiness in Two Mitochondrial Myopathy Mimics Recruiting NCT04478981
452 Myoelectric Devices for Restoration of Independent Arm Function in Children and Adults With Neurological Disease and Injury Recruiting NCT04798378
453 Motor NeuroProsthesis to Restore Motor Control for the COMMAND of Digital Devices: An Early Feasibility Study (EFS) of Safety in Subjects With Severe Quadriparesis Recruiting NCT05035823
454 Optimizing BCI-FIT: Brain Computer Interface - Functional Implementation Toolkit Recruiting NCT04468919
455 A High-Performance ECoG-based Neural Interface for Communication and Neuroprosthetic Control Recruiting NCT03698149 Early Phase 1
456 Is Telerehabilitation as Effective as the Traditional Hospital-based Rehabilitation in Patients With Proximal Muscle Weakness? - A Randomized Controlled Study Recruiting NCT04392518
457 Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood Recruiting NCT01568658
458 Stentrode With Thought-controlled Digital Switch: An Early Feasibility Study of the Safety of an Endovascular Motor Neuroprosthesis in Participants With Severe Upper Limb Impairment. Recruiting NCT05041114
459 Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders Recruiting NCT05200702
460 Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders Recruiting NCT05199246
461 Pro-inflammatory Cytokines as Potential Therapeutic Target in Type 1 Facioscapulohumeral Muscular Dystrophy: Pilot Study Active, not recruiting NCT04694456
462 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I Active, not recruiting NCT03842878
463 A NATURAL HISTORY STUDY IN CHINESE MALE PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY Active, not recruiting NCT03760029
464 Multicenter Non-Drug Screening Study to Determine the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease in Children With Unexplained Transaminase Elevation Active, not recruiting NCT04120168
465 Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients With a Fragile Sarcolemmal Muscular Dystrophy Active, not recruiting NCT01851447
466 To Train -or Not to Train? The Role of Physical Exercise as Part of Management in Duchenne Muscular Dystrophy Active, not recruiting NCT03963453
467 Investigation of Dual Task Performance in Children With Duchenne Muscular Dystrophy Active, not recruiting NCT05575648
468 Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy Active, not recruiting NCT01671865
469 Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD Active, not recruiting NCT03458832
470 Biomarker Development in LGMD2i Active, not recruiting NCT04202627
471 3 Year Follow up on Patients With Pathogenic Anoctamin 5 Variants Active, not recruiting NCT05206617
472 Long-Term Observational Study of Translarna Safety and Effectiveness in Usual Care Active, not recruiting NCT02369731
473 Pediatric Radio Frequency Coil Development on Clinical and Research MR Scanners Active, not recruiting NCT01633866
474 The Comparison of the Effects of Scapulothoracic Arthrodesis Surgery Versus Usual Care on Balance and Gait Parameters in Patients With Fascioscapulohumeral Dystrophy: One-Blind Study Active, not recruiting NCT05022355
475 Effect of Creatine Monohydrate on Functional Muscle Strength and Muscle Mass in Children With FSHD: a Multi-centre, Randomised, Double-blind Placebo-controlled Crossover Trial Active, not recruiting NCT02948244
476 Effects of the Physical Therapy Treatment on Children and Adolescents With Chronic and Neurological Pathologies Affecting Their Sensorimotor Abilities. Active, not recruiting NCT05313295
477 Neurodevice Phase II: Wireless Implantable Neurodevice Microsystem for Neuroprosthesis and Neuroscience Active, not recruiting NCT03811301
478 International Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077
479 An Open-Label, Expanded Access Protocol for Boys With Duchenne Muscular Dystrophy Who Have Completed the Long-Term Extension (VBP15-LTE) or VBP15-004 Studies Available NCT03863119 Vamorolone
480 Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases Enrolling by invitation NCT04349566
481 A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China Enrolling by invitation NCT04989751
482 Evaluation of Clinical, Immunological, Morphological, Molecular and Genetic Characteristics of Patients With Limb-girdle Muscular Dystrophy Type R2 (Type 2B) in the Russian Federation Enrolling by invitation NCT04824040
483 The Relationship Between Foot Posture and Performance and Ambulation in Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT05436210
484 Family Studies in Neuromuscular Disorders Enrolling by invitation NCT01459302
485 Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns Enrolling by invitation NCT03655223
486 Interventional Study of Expiratory Muscle Strength Training as a Treatment in Neuromuscular Disorders Enrolling by invitation NCT04009408
487 Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders Enrolling by invitation NCT03836300
488 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome) Enrolling by invitation NCT02413450
489 Identification of Genetic Modifying Factors in Striated Muscle Laminopathies Not yet recruiting NCT05394506
490 The Effect of Telerehabilitation of Patients With Duchenne Muscular Dystrophy Not yet recruiting NCT04782440
491 Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital Not yet recruiting NCT05029232
492 Prospective Cardiac Magnetic Resonance Imaging Study in Duchenne Muscular Dystrophy (DMD-CMP) Not yet recruiting NCT05558813
493 Correlation Between Functional Capacity and Functional Capability in Patients With Duchenne Muscular Dystrophy-A Longitudinal Study Not yet recruiting NCT05249361
494 Investigation of the Validity and Reliability of the Kinesthetic and Visual Imagery Questionnaire in Children With Duchenne Muscular Dystrophy Not yet recruiting NCT05559710
495 The Effects of Bicycle Training on Gait and Balance in Children With Duchenne Muscular Dystrophy Not yet recruiting NCT05330195
496 Enhancement and Optimization of a Mobile iBCI for Veterans With Paralysis Not yet recruiting NCT05470478
497 Public Awareness Level of SMA and DMD Muscle Disorders in Turkey, Attitudes Toward Screening of Newborn and Carrier and Physiotherapy Practice Not yet recruiting NCT05110885
498 ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study Not yet recruiting NCT05453461
499 Cultural Adaptation, Validity, and Reliability of the Turkish Version of North Star Ambulatory Assessment Not yet recruiting NCT05549999
500 CRT-P or CRT-D in Patients With Dilated Cardiomyopathy and Heart Failure Without LGE-CMR High-risk Markers Not yet recruiting NCT04139460
501 Effects of Exercise Therapy on Functional Capacity, Muscle Strength and Patient-reported Outcomes in Patients With Muscle Dystrophies Not yet recruiting NCT05081791
502 An Expanded Access IND to Evaluate the Safety and Efficacy of Autologous HBadMSCs for the Treatment of a Single Pediatric Patient With Congenital Muscular Dystrophy. No longer available NCT05154851
503 An Open-label Extension Study of the Long-term Safety, Tolerability and Efficacy of Drisapersen in Subjects With Duchenne Muscular Dystrophy. No longer available NCT02636686 Drisapersen
504 Expanded Access Protocol (EAP) of Idebenone in Patients With Duchenne Muscular Dystrophy Temporarily not available NCT03433807 Idebenone
505 Use of Dynamic Arm Support Devices for Upper Limb Function in Non-Ambulatory Men With Duchenne Muscular Dystrophy (DMD) Terminated NCT03531788
506 The Role of Family Functioning in Promoting Adaptation in Siblings of Individuals With Duchenne Muscular Dystrophy (DMD) Terminated NCT01386515
507 A SINGLE-SITE, PROSPECTIVE, NATURAL HISTORY LOW INTERVENTIONAL STUDY TO ESTABLISH NORMATIVE DATA OF REAL-WORLD ACTIVITY MEASURES USING WEARABLE SENSORS IN AMBULATORY BOYS WITH DUCHENNE MUSCULAR DYSTROPHY (DMD) Terminated NCT04254172
508 Skeletal Muscle Blood Flow in Becker Muscular Dystrophy Terminated NCT02653833 Early Phase 1 Tadalafil 20 MG
509 A Pilot Study of Cardiac Magnetic Resonance in Patients With Muscular Dystrophy Terminated NCT01633242
510 A Prospective Natural History Study of Progression of Physical Impairment, Activity Limitation and Quality of Life in Duchenne Muscular Dystrophy. Terminated NCT01753804
511 European Home Mechanical Ventilation Registry Terminated NCT02315339
512 Test-Retest Reliability of Pulmonary Function Tests in Patients With Duchenne's Muscular Dystrophy Withdrawn NCT00207857
513 The Relationship Between Pulmonary Function Measures and Transdiaphragmatic Measures in Duchenne Muscular Dystrophy Subjects Withdrawn NCT03335384
514 A LAMA2-related Muscular Dystrophy Study: Brain Magnetic Resonance Imaging (MRI)and Brain Electrophysiology Evaluation Withdrawn NCT01952028
515 Natural History Study of Oculopharyngeal Muscular Dystrophy Withdrawn NCT03161847
516 Self-management Training for Parents With Chronic Muscular Dystrophia Withdrawn NCT02641275

Search NIH Clinical Center for Muscular Dystrophy

Cochrane evidence based reviews: muscular dystrophies

Genetic Tests for Muscular Dystrophy

Genetic tests related to Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Muscular Dystrophy 28

Anatomical Context for Muscular Dystrophy

Organs/tissues related to Muscular Dystrophy:

MalaCards : Skeletal Muscle, Bone Marrow, Brain, Bone, Heart, Skin, Lung

Publications for Muscular Dystrophy

Articles related to Muscular Dystrophy:

(showing 25959, show less)
# Title Authors PMID Year
1
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. 53 62 5
12192640 2002
2
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. 62 5
30684953 2020
3
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. 62 5
29437916 2018
4
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 62 5
27874200 2017
5
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 62 5
28478914 2017
6
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 62 5
27766311 2016
7
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 62 5
26310427 2015
8
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 62 5
26133662 2015
9
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 62 5
25891276 2015
10
Expanding the phenotype of GMPPB mutations. 62 5
25681410 2015
11
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. 62 5
25244321 2014
12
[Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)]. 62 5
24988964 2014
13
Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization. 62 5
24135430 2014
14
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. 62 5
23299919 2013
15
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 62 5
23768512 2013
16
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. 62 5
20031633 2009
17
Regional genomic instability predisposes to complex dystrophin gene rearrangements. 62 5
19449031 2009
18
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. 62 5
18752307 2008
19
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 62 5
17951086 2008
20
Deletion and duplication screening in the DMD gene using MLPA. 62 5
16030524 2005
21
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). 62 5
12207930 2002
22
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 62 5
11528383 2001
23
Dystrophinopathies 62 5
20301298 2000
24
Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability. 62 5
11185740 2000
25
Detection of gene deletions in Chinese patients with Duchenne/Becker muscular dystrophy using CDNA probes and the polymerase chain reaction method. 62 5
10465346 1999
26
Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis. 62 5
1549142 1992
27
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. 62 5
2063877 1991
28
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11. 62 41
36134701 2022
29
Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction. 62 41
35946603 2022
30
Assessment of the upper limb muscles in patients with Fukuyama muscular dystrophy: Noninvasive assessment using visual ultrasound muscle analysis and shear wave elastography. 62 41
35902324 2022
31
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
32
SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance. 5
30921636 2019
33
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. 5
30060766 2018
34
Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 5
27147698 2016
35
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. 5
27527004 2016
36
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 5
27854218 2016
37
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 5
23394784 2013
38
SEPN1-related myopathies: clinical course in a large cohort of patients. 5
21670436 2011
39
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 5
19067361 2009
40
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 5
18713863 2008
41
Functional effects of mutations identified in patients with multiminicore disease. 5
17365175 2007
42
42nd ENMC Sponsored International Workshop: X-linked cardiomyopathies. 21-23 June 1996, Naarden, The Netherlands. 5
9327405 1997
43
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 53 62
19911250 2010
44
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 53 62
20207543 2010
45
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. 53 62
20016501 2010
46
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency. 53 62
20145110 2010
47
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. 53 62
20052759 2010
48
Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. 53 62
19880378 2010
49
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. 53 62
20082313 2010
50
Caveolinopathies: from the biology of caveolin-3 to human diseases. 53 62
19584897 2010
51
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. 53 62
20225280 2010
52
Zebrafish models for human FKRP muscular dystrophies. 53 62
19955119 2010
53
Mutations alter secretion of fukutin-related protein. 53 62
19900540 2010
54
Systemic myostatin inhibition via liver-targeted gene transfer in normal and dystrophic mice. 53 62
20161803 2010
55
Dexamethasone induces dysferlin in myoblasts and enhances their myogenic differentiation. 53 62
20080405 2010
56
Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients. 53 62
19929428 2010
57
Immunolabelling and flow cytometry as new tools to explore dysferlinopathies. 53 62
19854055 2010
58
O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. 53 62
20044576 2010
59
Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy. 53 62
19692349 2009
60
Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. 53 62
19679566 2009
61
Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation. 53 62
19716805 2009
62
Dystroglycan matrix receptor function in cardiac myocytes is important for limiting activity-induced myocardial damage. 53 62
19797173 2009
63
Mutational and functional analysis of Large in a novel CHO glycosylation mutant. 53 62
19470663 2009
64
Laminin alters fyn regulatory mechanisms and promotes oligodendrocyte development. 53 62
19776266 2009
65
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 53 62
19726876 2009
66
Laminopathies and the long strange trip from basic cell biology to therapy. 53 62
19587457 2009
67
Immortalized skin fibroblasts expressing conditional MyoD as a renewable and reliable source of converted human muscle cells to assess therapeutic strategies for muscular dystrophies: validation of an exon-skipping approach to restore dystrophin in Duchenne muscular dystrophy cells. 53 62
19358679 2009
68
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. 53 62
19266496 2009
69
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 53 62
19380584 2009
70
Muscular dystrophy candidate gene FRG1 is critical for muscle development. 53 62
19097195 2009
71
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. 53 62
19458539 2009
72
Therapy for neuromuscular disorders. 53 62
19411172 2009
73
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. 53 62
19286669 2009
74
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. 53 62
19218289 2009
75
Dystrophin and utrophin have distinct effects on the structural dynamics of actin. 53 62
19416869 2009
76
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 53 62
19299310 2009
77
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? 53 62
19287313 2009
78
'Congenital muscular dystrophy caused by integrin alpha7 deficiency'. 53 62
19260934 2009
79
Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B. 53 62
19258295 2009
80
Correction of dystrophia myotonica type 1 pre-mRNA transcripts by artificial trans-splicing. 53 62
18923454 2009
81
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 53 62
19283854 2009
82
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. 53 62
19155270 2009
83
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. 53 62
18406646 2009
84
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 53 62
19084400 2009
85
Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. 53 62
19015585 2009
86
Single muscle fiber contractile properties in adults with muscular dystrophy treated with MYO-029. 53 62
19086063 2009
87
Freeze-fracture replica immunolabelling reveals caveolin-1 in the human cardiomyocyte plasma membrane. 53 62
18793348 2008
88
Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans. 53 62
19127114 2008
89
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 53 62
18700894 2008
90
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. 53 62
18974005 2008
91
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. 53 62
18948002 2008
92
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 53 62
19067344 2008
93
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene. 53 62
18645206 2008
94
[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]. 53 62
18975603 2008
95
LRP4 serves as a coreceptor of agrin. 53 62
18957220 2008
96
Syncoilin, an intermediate filament-like protein linked to the dystrophin associated protein complex in skeletal muscle. 53 62
18810324 2008
97
Costameric proteins in human skeletal muscle during muscular inactivity. 53 62
18537849 2008
98
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. 53 62
18490429 2008
99
De novo LMNA mutations cause a new form of congenital muscular dystrophy. 53 62
18551513 2008
100
AAV-dependent targeting of myostatin function: follistatin strikes back at muscular dystrophy. 53 62
18528431 2008
101
Myostatin inhibition by a follistatin-derived peptide ameliorates the pathophysiology of muscular dystrophy model mice. 53 62
19108572 2008
102
Targeting myostatin for therapies against muscle-wasting disorders. 53 62
18600566 2008
103
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis. 53 62
18563459 2008
104
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. 53 62
18513969 2008
105
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 53 62
18478590 2008
106
Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). 53 62
18477595 2008
107
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. 53 62
18335515 2008
108
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. 53 62
18671187 2008
109
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. 53 62
18348272 2008
110
Genetic complementation of human muscle cells via directed stem cell fusion. 53 62
18334989 2008
111
Myostatin propeptide gene delivery by adeno-associated virus serotype 8 vectors enhances muscle growth and ameliorates dystrophic phenotypes in mdx mice. 53 62
18288893 2008
112
Dysferlin-deficient muscular dystrophy features amyloidosis. 53 62
18306167 2008
113
The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. 53 62
18033728 2008
114
5' trans-splicing repair of the PLEC1 gene. 53 62
17989727 2008
115
Animal models for genetic neuromuscular diseases. 53 62
18202836 2008
116
Caveolin regulates endocytosis of the muscle repair protein, dysferlin. 53 62
18096699 2008
117
LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy. 53 62
18053718 2008
118
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. 53 62
17994549 2008
119
Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1. 53 62
18299519 2008
120
Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy. 53 62
18213585 2008
121
Accelerated telomere shortening and replicative senescence in human fibroblasts overexpressing mutant and wild-type lamin A. 53 62
17870066 2008
122
The Z-disk diseases. 53 62
19181098 2008
123
[Fukuyama congenital muscular dystrophy--history and perspectives]. 53 62
18232332 2008
124
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. 53 62
17897828 2008
125
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. 53 62
18195152 2008
126
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 53 62
18330676 2008
127
Muscular integrity--a matter of interlinking distinct structures via plectin. 53 62
19181100 2008
128
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 53 62
18646565 2007
129
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. 53 62
17826093 2007
130
An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI. 53 62
17395506 2007
131
[Hint and luck for identification of a gene for Fukuyama muscular dystrophy, fukutin]. 53 62
18210789 2007
132
LGMD2I in a North American population. 53 62
18036232 2007
133
Isotonic fatigue in laminin alpha2-deficient dy/dy dystrophic mouse diaphragm. 53 62
17661374 2007
134
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo. 53 62
17554798 2007
135
Molecular heterogeneity in fetal forms of type II lissencephaly. 53 62
17559086 2007
136
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 53 62
17878207 2007
137
A novel mutation in limb girdle muscular dystrophy. 53 62
18035816 2007
138
Severe congenital muscular dystrophy in a LAMA2-mutated case. 53 62
17765811 2007
139
Muscular dystrophy associated mutations in caveolin-1 induce neurotransmission and locomotion defects in Caenorhabditis elegans. 53 62
17629760 2007
140
Dysferlin is expressed in human placenta but does not associate with caveolin. 53 62
17554076 2007
141
Dictyostelium gnt15 encodes a protein with similarity to LARGE and plays an essential role in development. 53 62
17588537 2007
142
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. 53 62
17318636 2007
143
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. 53 62
17698709 2007
144
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. 53 62
17436019 2007
145
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. 53 62
17702496 2007
146
Limb-girdle muscular dystrophy due to emerin gene mutations. 53 62
17620497 2007
147
Dystrophin-deficient mdx mice display a reduced life span and are susceptible to spontaneous rhabdomyosarcoma. 53 62
17360850 2007
148
Quantitative proton MRS of cerebral metabolites in laminin alpha2 chain deficiency. 53 62
17174499 2007
149
Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex. 53 62
17452335 2007
150
The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy. 53 62
17556535 2007
151
Congenital muscular dystrophies involving the O-mannose pathway. 53 62
17584082 2007
152
The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy. 53 62
17438294 2007
153
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 53 62
17336067 2007
154
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. 53 62
17303423 2007
155
Upregulated expression of cardiac ankyrin-repeated protein in renal podocytes is associated with proteinuria severity in lupus nephritis. 53 62
17239933 2007
156
Common variation in LMNA increases susceptibility to type 2 diabetes and associates with elevated fasting glycemia and estimates of body fat and height in the general population: studies of 7,495 Danish whites. 53 62
17327437 2007
157
Merosin-positive congenital muscular dystrophy: neuroimaging findings. 53 62
17420850 2007
158
Complex regulation and multiple developmental functions of misfire, the Drosophila melanogaster ferlin gene. 53 62
17386097 2007
159
Butyrylcholinesterase activity and molecular components in thymus of healthy and merosin-deficient Lama2dy mice. 53 62
17178175 2007
160
Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo. 53 62
17123513 2007
161
From "glycosyltransferase" to "congenital muscular dystrophy": integrating knowledge from NCBI Entrez Gene and the Gene Ontology. 53 62
17911917 2007
162
Myotilin: a prominent marker of myofibrillar remodelling. 53 62
17056257 2007
163
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level. 53 62
17949279 2007
164
Histological and immunohistological changes of the skeletal muscles in older SJL/J mice. 53 62
17108690 2007
165
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II. 53 62
16987711 2006
166
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. 53 62
17036286 2006
167
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. 53 62
17044012 2006
168
[Therapeutic strategies for muscular dystrophy by myostatin inhibition]. 53 62
17432227 2006
169
Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD. 53 62
16724091 2006
170
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 53 62
17030669 2006
171
LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments. 53 62
18593008 2006
172
Myostatin expression in muscular dystrophies and mitochondrial encephalomyopathies. 53 62
16996410 2006
173
Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb. 53 62
16857188 2006
174
Dysferlin is a new marker for leaky brain blood vessels in multiple sclerosis. 53 62
16957579 2006
175
Altered caveolin-3 expression disrupts PI(3) kinase signaling leading to death of cultured muscle cells. 53 62
16814768 2006
176
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 53 62
16801328 2006
177
Current understanding of dystrophin-related muscular dystrophy and therapeutic challenges ahead. 53 62
16934185 2006
178
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. 53 62
16730439 2006
179
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. 53 62
16779558 2006
180
C-terminal-truncated microdystrophin recruits dystrobrevin and syntrophin to the dystrophin-associated glycoprotein complex and reduces muscular dystrophy in symptomatic utrophin/dystrophin double-knockout mice. 53 62
16563874 2006
181
Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro". 53 62
16608842 2006
182
Different early pathogenesis in myotilinopathy compared to primary desminopathy. 53 62
16684602 2006
183
Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. 53 62
16705711 2006
184
[Emery-Dreifuss muscular dystrophy: case report]. 53 62
16791377 2006
185
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype? 53 62
16816913 2006
186
Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin. 53 62
16684813 2006
187
FER-1 regulates Ca2+ -mediated membrane fusion during C. elegans spermatogenesis. 53 62
16735442 2006
188
Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. 53 62
16448387 2006
189
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 53 62
16575835 2006
190
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? 53 62
16487936 2006
191
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies. 53 62
16531417 2006
192
Early onset calpainopathy with normal non-functional calpain 3 level. 53 62
16542520 2006
193
Laminopathies: multisystem dystrophy syndromes. 53 62
16364671 2006
194
A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy. 53 62
16498447 2006
195
Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene. 53 62
16386759 2006
196
Suspected malignant hyperthermia in a child with laminin alpha2 (merosin) deficiency in the absence of a triggering agent. 53 62
16618304 2006
197
Myostatin expression in muscular dystrophies and mitochondrial encephalomyopathies. 53 62
16638502 2006
198
Absence of alpha 7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy. 53 62
16476707 2006
199
Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency. 53 62
16483775 2006
200
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. 53 62
16278265 2006
201
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. 53 62
16341202 2006
202
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. 53 62
16476814 2006
203
Coexisting muscular dystrophies and epilepsy in children. 53 62
16566880 2006
204
Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families. 53 62
19388593 2006
205
Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish. 53 62
16583129 2006
206
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. 53 62
16288869 2005
207
Syncoilin upregulation in muscle of patients with neuromuscular disease. 53 62
16124004 2005
208
Alpha-dystroglycan, the usual suspect? 53 62
16289897 2005
209
Myostatin: a modulator of skeletal-muscle stem cells. 53 62
16246158 2005
210
Deficiency of alpha-sarcoglycan differently affects fast- and slow-twitch skeletal muscles. 53 62
16002556 2005
211
Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy. 53 62
16237120 2005
212
Decorin and biglycan expression is differentially altered in several muscular dystrophies. 53 62
16183658 2005
213
Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain. 53 62
16115818 2005
214
X-linked form of Emery-Dreifuss muscular dystrophy. 53 62
16550925 2005
215
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 53 62
16216942 2005
216
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells. 53 62
16055117 2005
217
Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. 53 62
15958417 2005
218
Caveolin-3 is a sensitive and specific marker for rhabdomyosarcoma. 53 62
16082247 2005
219
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. 53 62
16100712 2005
220
Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy. 53 62
16112887 2005
221
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. 53 62
16087766 2005
222
Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis. 53 62
16100770 2005
223
The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. 53 62
16076904 2005
224
[Altered expression of myostatin gene in the progressive muscular dystrophy patients]. 53 62
16231730 2005
225
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. 53 62
15965218 2005
226
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3. 53 62
15886997 2005
227
Desmin-related myopathy: report of a rare case. 53 62
16010068 2005
228
Myostatin, a negative regulator of muscle mass: implications for muscle degenerative diseases. 53 62
15907921 2005
229
A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophy. 53 62
15833424 2005
230
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. 53 62
15833426 2005
231
A new LMNA mutation causing limb girdle muscular dystrophy 1B. 53 62
15789136 2005
232
Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin. 53 62
15893581 2005
233
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). 53 62
15792869 2005
234
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 53 62
15689361 2005
235
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. 53 62
15792865 2005
236
Aberrant glycosylation of alpha-dystroglycan causes defective binding of laminin in the muscle of chicken muscular dystrophy. 53 62
15848172 2005
237
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. 53 62
15661757 2005
238
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 53 62
15728284 2005
239
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). 53 62
15681471 2005
240
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. 53 62
15694138 2005
241
Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. 53 62
15736300 2005
242
Muscle regeneration in the prolonged absence of myostatin. 53 62
15699335 2005
243
CAPON expression in skeletal muscle is regulated by position, repair, NOS activity, and dystrophy. 53 62
15561099 2005
244
Genetics of laminopathies. 53 62
15773749 2005
245
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 53 62
15654962 2005
246
Molecular and muscle pathology in a series of caveolinopathy patients. 53 62
15580566 2005
247
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. 53 62
15843148 2005
248
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. 53 62
15574464 2005
249
[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]. 53 62
15884399 2005
250
Mutations in the mouse Lmna gene causing progeria, muscular dystrophy and cardiomyopathy. 53 62
15773758 2005
251
Congenital diseases of feline muscle and neuromuscular junction. 53 62
15546767 2004
252
The effect of e-, i-, and n-nitric oxide synthase inhibition on colonic motility in normal and muscular dystrophy (mdx) mice. 53 62
15760488 2004
253
[Updates in muscular dystrophies]. 53 62
15543503 2004
254
In vivo and in vitro dysferlin expression in human muscle satellite cells. 53 62
15535137 2004
255
The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity. 53 62
15271988 2004
256
Glycosylation defects in muscular dystrophies. 53 62
15367856 2004
257
LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy. 53 62
15452315 2004
258
Proteolytic enzymes and altered glycosylation modulate dystroglycan function in carcinoma cells. 53 62
15342399 2004
259
Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. 53 62
15254015 2004
260
Co-localization of fukutin and alpha-dystroglycan in the mouse central nervous system. 53 62
15351499 2004
261
Journey into muscular dystrophies caused by abnormal glycosylation. 53 62
15605948 2004
262
Laminin alpha1 chain reduces muscular dystrophy in laminin alpha2 chain deficient mice. 53 62
15213105 2004
263
Molecular diagnosis in LGMD2A: mutation analysis or protein testing? 53 62
15221789 2004
264
Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. 53 62
15138196 2004
265
Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1. 53 62
15207699 2004
266
Utility of dystrophin and utrophin staining in childhood muscular dystrophy. 53 62
16295426 2004
267
Activins, myostatin and related TGF-beta family members as novel therapeutic targets for endocrine, metabolic and immune disorders. 53 62
15180456 2004
268
Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease. 53 62
15099593 2004
269
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 53 62
15122708 2004
270
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. 53 62
15103718 2004
271
Dysferlin and the plasma membrane repair in muscular dystrophy. 53 62
15066638 2004
272
Drastic reduction of sarcalumenin in Dp427 (dystrophin of 427 kDa)-deficient fibres indicates that abnormal calcium handling plays a key role in muscular dystrophy. 53 62
14678011 2004
273
Defective glycosylation in congenital muscular dystrophies. 53 62
15021250 2004
274
Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. 53 62
14722059 2004
275
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. 53 62
14972325 2004
276
EMG and nerve conduction studies in children with congenital muscular dystrophy. 53 62
14755496 2004
277
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. 53 62
14742276 2004
278
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 53 62
14652796 2004
279
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin. 53 62
14991347 2004
280
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. 53 62
14981167 2004
281
The role of defective glycosylation in congenital muscular dystrophy. 53 62
15229394 2004
282
Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation. 53 62
15206692 2004
283
Newly identified exons encoding novel variants of p94/calpain 3 are expressed ubiquitously and overlap the alpha-glucosidase C gene. 53 62
14675785 2003
284
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 53 62
14647208 2003
285
A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes. 53 62
14600260 2003
286
Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. 53 62
14749532 2003
287
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. 53 62
12966029 2003
288
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. 53 62
14578192 2003
289
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. 53 62
12944420 2003
290
FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies. 53 62
14642275 2003
291
Merosin negative congenital muscular dystrophy: a short report. 53 62
14652462 2003
292
Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. 53 62
14512171 2003
293
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. 53 62
12899872 2003
294
Abnormal dysbindin expression in cerebellar mossy fiber synapses in the mdx mouse model of Duchenne muscular dystrophy. 53 62
12878699 2003
295
Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. 53 62
12734659 2003
296
[Merosin-positive congenital muscular dystrophy, white matter abnormalities, and bilateral posterior occipital cortical dysplasia]. 53 62
12868400 2003
297
Cardiac-restricted ankyrin-repeated protein is differentially induced in duchenne and congenital muscular dystrophy. 53 62
12746480 2003
298
Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. 53 62
12700173 2003
299
An atomic model for actin binding by the CH domains and spectrin-repeat modules of utrophin and dystrophin. 53 62
12742015 2003
300
Genetic abnormalities and clinical classification of epidermolysis bullosa. 53 62
12677430 2003
301
Protein glycosylation in disease: new insights into the congenital muscular dystrophies. 53 62
12707004 2003
302
[Merosin-positive congenital muscular dystrophy with early orthopaedic problems in relation to Ullrich's disease]. 53 62
12661101 2003
303
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 53 62
12654965 2003
304
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. 53 62
12588800 2003
305
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 53 62
12628721 2003
306
Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin alpha2 chain gene. 53 62
12609503 2003
307
Laminin alpha2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice. 53 62
12609502 2003
308
Assessment of left ventricular systolic and diastolic functions in children with merosin-positive congenital muscular dystrophy. 53 62
12559529 2003
309
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 53 62
12552556 2003
310
Consequences of a novel caveolin-3 mutation in a large German family. 53 62
12557291 2003
311
Glycosylation defects in inherited muscle disease. 53 62
12678490 2003
312
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. 53 62
12467734 2003
313
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. 53 62
12499399 2003
314
Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy. 53 62
12417403 2002
315
Functional requirements for fukutin-related protein in the Golgi apparatus. 53 62
12471058 2002
316
Defective glycosylation in muscular dystrophy. 53 62
12424008 2002
317
Loss of sarcolemma nNOS in sarcoglycan-deficient muscle. 53 62
12409321 2002
318
Gene transfer studies in animals: what do they really tell us about the prospects for gene therapy in DMD? 53 62
12206790 2002
319
Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy? 53 62
12206805 2002
320
Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders. 53 62
12354792 2002
321
Restoration of dystrophin expression in cultured hybrid myotubes. 53 62
12366821 2002
322
Effects of deleting a tripeptide sequence observed in muscular dystrophy patients on the conformation of synthetic peptides corresponding to the scaffolding domain of caveolin-3. 53 62
12387816 2002
323
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 53 62
12145747 2002
324
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 53 62
12196663 2002
325
Muscular dystrophies, dilated cardiomyopathy, lipodystrophy and neuropathy: the nuclear connection. 53 62
14585157 2002
326
Overview of neuromuscular disorders affecting respiratory function. 53 62
16088611 2002
327
Structure of the globular tail of nuclear lamin. 53 62
11901143 2002
328
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. 53 62
12011280 2002
329
Congenital muscular dystrophy in Israeli families. 53 62
12150578 2002
330
Contributions of the LG modules and furin processing to laminin-2 functions. 53 62
11886875 2002
331
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. 53 62
11883957 2002
332
The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I. 53 62
11801394 2002
333
Muscle lesions associated with dystrophin deficiency in neonatal golden retriever puppies. 53 62
11944998 2002
334
[Association between dystrophin and neuronal nitric oxide synthase in muscles of progressive muscular dystrophy]. 53 62
11953148 2002
335
The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. 53 62
11829483 2002
336
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). 53 62
11938437 2002
337
Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. 53 62
11694502 2002
338
The muscle-specific marker desmin is expressed in a proportion of human dermal fibroblasts after their exposure to galectin-1. 53 62
11738361 2002
339
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency. 53 62
11786420 2002
340
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. 53 62
11782994 2002
341
Novel protein domains and repeats in Drosophila melanogaster: insights into structure, function, and evolution. 53 62
11731489 2001
342
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 53 62
11592034 2001
343
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. 53 62
11741828 2001
344
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. 53 62
11709191 2001
345
Adhalin deficiency: an unusual cause of muscular dystrophy. 53 62
11770249 2001
346
Inner nuclear membrane proteins: functions and targeting. 53 62
11766875 2001
347
[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)]. 53 62
11813630 2001
348
The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases. 53 62
11709282 2001
349
Caveolae and caveolin-3 in muscular dystrophy. 53 62
11597517 2001
350
The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. 53 62
11584042 2001
351
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 53 62
11591858 2001
352
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. 53 62
11565031 2001
353
A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. 53 62
11525883 2001
354
Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings. 53 62
11525887 2001
355
Dystrophin and muscular dystrophy: past, present, and future. 53 62
11592805 2001
356
Dysferlin protein analysis in limb-girdle muscular dystrophies. 53 62
11665864 2001
357
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. 53 62
11532985 2001
358
Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect? 53 62
11404123 2001
359
Overexpression of gamma-sarcoglycan induces severe muscular dystrophy. Implications for the regulation of Sarcoglycan assembly. 53 62
11287429 2001
360
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain. 53 62
11371436 2001
361
Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. 53 62
11381262 2001
362
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. 53 62
11369186 2001
363
Creatine transporter and mitochondrial creatine kinase protein content in myopathies. 53 62
11317279 2001
364
Fukuyama muscular dystrophy associated with lack of C-terminal domain of dystrophin. 53 62
11516613 2001
365
Cardiomyopathy in animal models of muscular dystrophy. 53 62
11357018 2001
366
A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. 53 62
12184464 2001
367
Telethonin and other new proteins of the Z-disc of skeletal muscle. 53 62
11699871 2001
368
The susceptibility of muscle cells to oxidative stress is independent of nitric oxide synthase expression. 53 62
11268022 2001
369
Induction of stearoyl CoA desaturase is associated with high-level induction of emerin RNA. 53 62
11352637 2001
370
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping. 53 62
11287370 2001
371
Mutations in the caveolin-3 gene: When are they pathogenic? 53 62
11251997 2001
372
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. 53 62
11294923 2001
373
Deficiency of the 50 kDa dystrophin-associated-glycoprotein (adhalin) in an Indian autosomal recessive limb girdle muscular dystrophy patient : immunochemical analysis and clinical aspects. 53 62
11303236 2001
374
A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR. 53 62
11260612 2001
375
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. 53 62
11238465 2001
376
The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells. 53 62
11159939 2001
377
Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. 53 62
11165248 2001
378
Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. 53 62
11231027 2001
379
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. 53 62
11198284 2001
380
Characterization and chromosome assignment of the canine gamma-sarcoglycan gene (SGCG) to CFA 25q21-->q23. 53 62
11856878 2001
381
Transfection of MCF-7 carcinoma cells with human integrin alpha7 cDNA promotes adhesion to laminin. 53 62
11361006 2001
382
MR imaging of pelvic and thigh muscles in congenital muscular dystrophy. 53 62
11297158 2001
383
Absence of utrophin in intercalated discs of human cardiac muscle. 53 62
11352403 2001
384
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. 53 62
11053679 2000
385
Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies. 53 62
11117547 2000
386
Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology. 53 62
11121445 2000
387
Mutations in the LMNA gene encoding lamin A/C. 53 62
11102973 2000
388
[Molecular therapy of muscular dystrophy]. 53 62
11464475 2000
389
Transaminitis in Duchenne's muscular dystrophy. 53 62
11269976 2000
390
Unusual laminin alpha2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy. 53 62
11062006 2000
391
A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy. 53 62
11071490 2000
392
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. 53 62
11001938 2000
393
Myotilin is mutated in limb girdle muscular dystrophy 1A. 53 62
10958653 2000
394
What is muscular dystrophy? Forty years of progressive ignorance. 53 62
11077661 2000
395
Muscular dystrophy. 53 62
11037185 2000
396
Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype. 53 62
10931944 2000
397
[Two sibling patients with non-Fukuyama type congenital muscular dystrophy with low serum selenium levels--therapeutic effects of oral selenium administration]. 53 62
10916376 2000
398
Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. 53 62
10825360 2000
399
Fukutin protein is expressed in neurons of the normal developing human brain but is reduced in Fukuyama-type congenital muscular dystrophy brain. 53 62
10852541 2000
400
High resolution magnetic resonance imaging of the brain in the dy/dy mouse with merosin-deficient congenital muscular dystrophy. 53 62
10838257 2000
401
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 53 62
10814726 2000
402
The Kell blood group system: Kell and XK membrane proteins. 53 62
10791880 2000
403
Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases. 53 62
10757473 2000
404
Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy. 53 62
10679036 2000
405
Distal myopathies. 53 62
10787109 2000
406
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 53 62
10652002 2000
407
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 53 62
10655060 2000
408
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. 53 62
10665485 2000
409
Dystrophin and utrophin: genetic analyses of their role in skeletal muscle. 53 62
10679963 2000
410
Merosin and congenital muscular dystrophy. 53 62
10679965 2000
411
Immunocytochemical analysis of human muscular dystrophy. 53 62
10679962 2000
412
Sarcoglycans in muscular dystrophy. 53 62
10679964 2000
413
Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. 53 62
10872105 2000
414
Myoferlin, a candidate gene and potential modifier of muscular dystrophy. 53 62
10607832 2000
415
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. 53 62
10629222 2000
416
Structural comparison of actin binding in utrophin and dystrophin. 53 62
11382192 2000
417
The up-regulation of utrophin is not limited to muscular dystrophies. 53 62
10707847 1999
418
Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration. 53 62
10682317 1999
419
Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency. 53 62
10616210 1999
420
Crystal structure of the actin-binding region of utrophin reveals a head-to-tail dimer. 53 62
10647184 1999
421
Laminins during muscle development and in muscular dystrophies. 53 62
11212297 1999
422
Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy. 53 62
10552210 1999
423
NCAM, vimentin and neonatal myosin heavy chain expression in human muscle diseases. 53 62
10564532 1999
424
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. 53 62
10545040 1999
425
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? 53 62
10543397 1999
426
Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex. 53 62
10464299 1999
427
[A patient of Walker-Warburg syndrome with a haplotype different from that in Fukuyama-type congenital muscular dystrophy]. 53 62
10487070 1999
428
Emerin. 53 62
10533281 1999
429
WW and EF hand domains of dystrophin-family proteins mediate dystroglycan binding. 53 62
10662592 1999
430
alpha-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability. 53 62
10366602 1999
431
Activation of caspase-3 apoptotic pathways in skeletal muscle fibers in laminin alpha2-deficient mice. 53 62
10381357 1999
432
A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations. 53 62
10399752 1999
433
Variable histological expression of dystrophinopathy in two females. 53 62
10378386 1999
434
Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1. 53 62
10366449 1999
435
Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation. 53 62
10392752 1999
436
A case of McLeod syndrome with unusually severe myopathy. 53 62
10465497 1999
437
Dysferlin is a plasma membrane protein and is expressed early in human development. 53 62
10196375 1999
438
Laminin alpha2 deficient congenital muscular dystrophy: prenatal diagnosis. 53 62
10367979 1999
439
Myoblast transplantations lead to the expression of the laminin alpha 2 chain in normal and dystrophic (dy/dy) mouse muscles. 53 62
10505103 1999
440
Changes in muscle mass and phenotype and the expression of autocrine and systemic growth factors by muscle in response to stretch and overload. 53 62
10386770 1999
441
The WW domain of dystrophin requires EF-hands region to interact with beta-dystroglycan. 53 62
10355629 1999
442
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation. 53 62
10220864 1999
443
Secondary reduction of alpha7B integrin in laminin alpha2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle. 53 62
10371075 1999
444
Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutants. 53 62
10068512 1999
445
Merosin-positive congenital muscular dystrophy: a large inbred family. 53 62
10222457 1999
446
Mutation analysis and molecular genetics of epidermolysis bullosa. 53 62
10367729 1999
447
The childhood muscular dystrophies: making order out of chaos. 53 62
10711985 1999
448
[Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy]. 53 62
10067123 1999
449
Alterations of the retino-cortical conduction in patients affected by classical congenital muscular dystrophy (CI-CMD) with merosin deficiency. 53 62
10946999 1999
450
[Dystrophin and dystrophin-associated proteins. Their evaluation at the neuromuscular pathology laboratory]. 53 62
10101784 1999
451
Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests. 53 62
9886273 1999
452
Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients. 53 62
9877136 1998
453
Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. 53 62
9829280 1998
454
Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression. 53 62
9781539 1998
455
Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy. 53 62
9736061 1998
456
Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept. 53 62
9796753 1998
457
Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. 53 62
9736139 1998
458
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. 53 62
9731526 1998
459
FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates. 53 62
9714712 1998
460
Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. 53 62
9710043 1998
461
Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides. 53 62
9618164 1998
462
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. 53 62
9674786 1998
463
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. 53 62
9642272 1998
464
Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases. 53 62
9674785 1998
465
Congenital muscular dystrophy with partial merosin deficiency and late onset epilepsy. 53 62
9693231 1998
466
[Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases]. 53 62
9658457 1998
467
Oculopharyngeal muscular dystrophy: non-French-Canadian pedigrees. 53 62
9585341 1998
468
Mutations in the integrin alpha7 gene cause congenital myopathy. 53 62
9590299 1998
469
Caveolin-3 in muscular dystrophy. 53 62
9536092 1998
470
Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy. 53 62
9650678 1998
471
Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies. 53 62
9610800 1998
472
[Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex]. 53 62
9646269 1998
473
Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development. 53 62
9521867 1998
474
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. 53 62
9541105 1998
475
Laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: an immunohistochemical study. 53 62
9637197 1998
476
Respiratory muscles as a target for adenovirus-mediated gene therapy. 53 62
9551759 1998
477
Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. 53 62
9475163 1998
478
Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online. 53 62
10694916 1998
479
A new congenital muscular dystrophy with mitochondrial structural abnormalities. 53 62
9427222 1998
480
An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22. 53 62
10726842 1998
481
Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study. 53 62
9444358 1997
482
Abnormal expression of laminin beta 1 chain in skeletal muscle of adult-onset limb-girdle muscular dystrophy. 53 62
9400354 1997
483
Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy. 53 62
9447608 1997
484
[The frequency of patients with adhalin deficiency in a muscular dystrophy patient population]. 53 62
9436429 1997
485
Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases. 53 62
9470905 1997
486
[Non-Fukuyama type congenital muscular dystrophy--merosin deficient and positive forms]. 53 62
9436431 1997
487
[Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)]. 53 62
9436427 1997
488
A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci. 53 62
9447607 1997
489
Dystrophin in the retina. 53 62
9421835 1997
490
Abscence of laminin alpha1 chain in the skeletal muscle of dystrophic dy/dy mice. 53 62
9390664 1997
491
Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies. 53 62
9427295 1997
492
Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy. 53 62
9393893 1997
493
Light-microscopic study of the beta 1 integrin subunit in human skeletal muscle. 53 62
9401799 1997
494
Presence of laminin alpha5 chain and lack of laminin alpha1 chain during human muscle development and in muscular dystrophies. 53 62
9353324 1997
495
Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene. 53 62
9392020 1997
496
Changes of laminin beta 2 chain expression in congenital muscular dystrophy. 53 62
9327401 1997
497
Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy. 53 62
9309713 1997
498
Calpain-3 deficiency causes a mild muscular dystrophy in childhood. 53 62
9309711 1997
499
Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin. 53 62
9270600 1997
500
Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. 53 62
9255383 1997
501
Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy. 53 62
9309712 1997
502
Immunolocalization of several laminin chains in the normal human central and peripheral nervous system. 53 62
9267051 1997
503
Study of myopathies by histological and histochemical methods with special reference to staining for desmin expression. 53 62
9354004 1997
504
The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8. 53 62
9166581 1997
505
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). 53 62
9192266 1997
506
Reduced sarcolemmal dystrophin distribution and upregulation of utrophin in the cardiac and skeletal muscles of CHF-146 dystrophic hamsters. 53 62
9376024 1997
507
Recent advances in diagnosis of the childhood muscular dystrophies. 53 62
9259292 1997
508
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. 53 62
9185182 1997
509
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain. 53 62
9185180 1997
510
The genomic organization of human dystrobrevin. 53 62
10735273 1997
511
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy. 53 62
9099847 1997
512
Novel isoform of myotonin protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle. 53 62
9094985 1997
513
Asymptomatic dystrophinopathy. 53 62
9096754 1997
514
Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings. 53 62
9069486 1997
515
Normal expression of adhalin and merosin in ovine congenital progressive muscular dystrophy. 53 62
9088516 1997
516
Intracellular detection of laminin alpha 2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin alpha 2 chain deficient subjects. 53 62
9131649 1997
517
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. 53 62
9039983 1997
518
[Gene analysis in patients with muscular dystrophy: alpha-sarcoglycan (adhalin) gene mutations in patients with malignant limb-girdle muscular dystrophy]. 53 62
9120997 1997
519
Genetic epidemiology of Duchenne and Becker muscular dystrophy in Slovenia. 53 62
9111995 1997
520
Novel point mutations in the dystrophin gene. 53 62
9298822 1997
521
Muscle pathology and clinical features of the sarcolemmopathies. 53 62
9044410 1997
522
Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families. 53 62
10728208 1997
523
Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex. 53 62
9027858 1996
524
Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis. 53 62
8958324 1996
525
Beyond dystrophin: current progress in the muscular dystrophies. 53 62
9018440 1996
526
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. 53 62
8941634 1996
527
Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature. 53 62
8981297 1996
528
Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy. 53 62
8957020 1996
529
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. 53 62
9018456 1996
530
Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry. 53 62
8911899 1996
531
Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. 53 62
8910357 1996
532
Muscular dystrophy. Utrophin to the rescue. 53 62
8934508 1996
533
Characteristic expression of cell adhesion molecules in adhalin deficiency. 53 62
8981302 1996
534
Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. 53 62
8981021 1996
535
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. 53 62
8894687 1996
536
alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations. 53 62
8866424 1996
537
Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy. 53 62
8799168 1996
538
Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy. 53 62
8887951 1996
539
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein. 53 62
8651294 1996
540
Genetic counseling of isolated carriers of Duchenne muscular dystrophy. 53 62
8826437 1996
541
Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. 53 62
8628353 1996
542
Nondystrophinopathic muscular dystrophies including myotonic dystrophy. 53 62
8795845 1996
543
Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency. 53 62
8784804 1996
544
The association of cardiac dystrophin with myofibrils/Z-disc regions in cardiac muscle suggests a novel role in the contractile apparatus. 53 62
8647839 1996
545
Partial laminin alpha2 chain restoration in alpha2 chain-deficient dy/dy mouse by primary muscle cell culture transplantation. 53 62
8601607 1996
546
Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy. 53 62
8596321 1996
547
Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining. 53 62
8618688 1996
548
Neurosensory hearing loss in secondary adhalinopathy. 53 62
8677023 1996
549
Brief report: deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy. 53 62
8538707 1996
550
Clinical heterogeneity of adhalin deficiency. 53 62
8967751 1996
551
Clinical and histopathological features of abnormalities of the dystrophin-based membrane cytoskeleton. 53 62
8866747 1996
552
[Recent progress, genetic diagnosis and its problem on congenital muscular dystrophies (Fukuyama and non-Fukuyama types)]. 53 62
8752416 1995
553
[Severe childhood autosomal recessive muscular dystrophy]. 53 62
8752417 1995
554
Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations. 53 62
8719743 1995
555
Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. 53 62
8745640 1995
556
[Dystrophinopathies]. 53 62
8838554 1995
557
Secretion of laminin alpha 2 chain in cerebrospinal fluid. 53 62
8521961 1995
558
Abnormal expression of heparin sulfate proteoglycan on basal lamina of muscle fibers in two Japanese patients with adhalin deficiency. 53 62
8580728 1995
559
[Recent advances in Fukuyama type congenital muscular dystrophy]. 53 62
8534509 1995
560
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. 53 62
7581449 1995
561
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. 53 62
7550355 1995
562
Congenital muscular dystrophies. 53 62
8542045 1995
563
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. 53 62
7668821 1995
564
Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury. 53 62
7546737 1995
565
A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin. 53 62
7496177 1995
566
Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. 53 62
7657792 1995
567
Immunohistochemical alterations of dystrophin in congenital muscular dystrophy. 53 62
8540815 1995
568
Absence of correlation between utrophin localization and quantity and the clinical severity in Duchenne/Becker dystrophies. 53 62
8533838 1995
569
Expression of laminin subunits in congenital muscular dystrophy. 53 62
7580244 1995
570
[Non-Fukuyama type merosin-positive congenital muscular dystrophy with delayed muscle fiber type differentiation: a case report]. 53 62
7612293 1995
571
Laminin abnormality in severe childhood autosomal recessive muscular dystrophy. 53 62
7783429 1995
572
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. 53 62
7477753 1995
573
Adhalin mRNA and cDNA sequence are normal in the cardiomyopathic hamster. 53 62
7758576 1995
574
Dystrophin, utrophin, and muscular dystrophy. 53 62
7838210 1995
575
The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin. 53 62
7898714 1995
576
The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability. 53 62
7782608 1995
577
Immunohistochemistry in the diagnosis of dystrophinopathies. 53 62
7547371 1995
578
Full-length and short forms of utrophin, the dystrophin-related protein. 53 62
7843413 1995
579
Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium. 53 62
7977357 1994
580
Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. 53 62
7937874 1994
581
Absence of dystrophin and utrophin in a boy with severe muscular dystrophy. 53 62
7935651 1994
582
Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. 53 62
8093083 1994
583
Cell adhesion in muscle. 53 62
7787806 1994
584
The muscular dystrophies. 53 62
7952855 1994
585
Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin. 53 62
8040315 1994
586
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. 53 62
8069911 1994
587
Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. 53 62
8202529 1994
588
[Monoclonal antibodies to dystrophin in biopsy diagnosis of Duchenne and Becker progressive muscular dystrophies]. 53 62
8020113 1994
589
Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy. 53 62
8064304 1994
590
Expression of myosin isoforms and of desmin, vimentin and titin in Tunisian Duchenne-like autosomal recessive muscular dystrophy. 53 62
8064303 1994
591
[Lessons of dystrophin]. 53 62
7937619 1994
592
Congenital muscular dystrophy with merosin deficiency. 53 62
8000914 1994
593
Deficiency of the 50 kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two south Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy. 53 62
8012192 1994
594
Expression of the 43 kDa dystrophin-associated glycoprotein in human neuromuscular disease. 53 62
8012191 1994
595
Selective defect in dystrophin-associated glycoproteins 50DAG (A2) and 35DAG (A4) in the dystrophic hamster: an animal model for severe childhood autosomal recessive muscular dystrophy (SCARMD). 53 62
8173351 1994
596
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. 53 62
7987694 1994
597
Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategies. 53 62
7510932 1993
598
Chromosomal localization of the mouse titin gene and its relation to "muscular dystrophy with myositis" and nebulin genes on chromosome 2. 53 62
8307566 1993
599
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. 53 62
8275093 1993
600
Dystrophin assay in muscular dystrophies: an Indian experience. 53 62
7950930 1993
601
Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). 53 62
8226900 1993
602
The muscular dystrophies and dystrophin. 53 62
8293139 1993
603
[Cellular therapy and gene therapy: perspectives in neuromuscular pathology]. 53 62
8290312 1993
604
Dystrophin analysis in the diagnosis of childhood muscular dystrophy: an immunohistochemical study of 75 cases. 53 62
8247961 1993
605
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. 53 62
8242065 1993
606
Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. 53 62
8044705 1993
607
Nutritional factors in the pathogenesis and therapy of respiratory insufficiency in neuromuscular diseases. 53 62
8257975 1993
608
Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. 53 62
8355788 1993
609
Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severity. 53 62
8229051 1993
610
Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy. 53 62
7684887 1993
611
Mental retardation locus in Xp21 chromosome microdeletion. 53 62
8357005 1993
612
A quantitative ELISA for dystrophin. 53 62
8486926 1993
613
The structural and functional diversity of dystrophin. 53 62
7981747 1993
614
Improved electrophoretic method for the analysis of dystrophin in human muscle. 53 62
8451603 1993
615
Muscular dystrophy: dystrophin and partners at the cell surface. 53 62
15335806 1993
616
Rapid selection of donor myoblast clones for muscular dystrophy therapy using cell surface expression of NCAM. 53 62
7510544 1993
617
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy. 53 62
8429320 1993
618
Dystrophin-related protein in skeletal muscles in neuromuscular disorders: immunohistochemical study. 53 62
8460531 1993
619
[Application of combined DNA and dystrophin protein analysis in the diagnosis of Duchenne's and Becker's muscular dystrophy in 102 Dutch patients]. 53 62
8421530 1993
620
Absence of dystrophin in two patients with Becker type Xp21 muscular dystrophy. 53 62
1480320 1992
621
Dystrophin test in differential diagnosis of childhood muscular dystrophies. 53 62
1308019 1992
622
[Muscular dystrophy as a risk factor in anesthesia]. 53 62
1509647 1992
623
Molecular genetic and immunological analysis of dystrophin of a young patient with X-linked muscular dystrophy. 53 62
1605252 1992
624
[Homologies between membrane proteins result in expected or unexpected relations between neuromuscular and erythrocyte diseases]. 53 62
1410892 1992
625
Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysis. 53 62
1422199 1992
626
[[Study of dystrophin in muscular dystrophy--why and when?]. 53 62
1366119 1992
627
Rapid mapping by transposon mutagenesis of epitopes on the muscular dystrophy protein, dystrophin. 53 62
1719482 1991
628
Immunocytochemical analysis of dystrophin in congenital muscular dystrophy. 53 62
1795174 1991
629
Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot. 53 62
1944822 1991
630
Duchenne's muscular dystrophy: review and recent scientific findings. 53 62
1897557 1991
631
Dystrophin abnormality in progressive muscular dystrophy--a review article. 53 62
1957648 1991
632
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita. 53 62
1999345 1991
633
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle. 53 62
1822793 1991
634
Estimate of the intrafamilial correlation for serum creatine kinase and pyruvate kinase in females at risk for Duchenne and Becker muscular dystrophies. 53 62
1797630 1991
635
Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier. 53 62
1706453 1990
636
Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study. 53 62
1700808 1990
637
[Clinical significance of serum cardiac myosin light chain I in patients with muscular dystrophy]. 53 62
2253417 1990
638
Distal myopathy. 53 62
2082493 1990
639
Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin. 53 62
1692289 1990
640
Calpains (intracellular calcium-activated cysteine proteinases): structure-activity relationships and involvement in normal and abnormal cellular metabolism. 53 62
2279616 1990
641
Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. 53 62
2205076 1990
642
Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in the dystrophic muscle in Duchenne muscular dystrophy. 62
36265896 2023
643
A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2. 62
36186954 2022
644
A cell-penetrating peptide enhances delivery and efficacy of phosphorodiamidate morpholino oligomers in mdx mice. 62
36189424 2022
645
Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes. 62
36267863 2022
646
Stimulated biofeedback training for a child with Becker muscular dystrophy and compartment syndrome in the left forearm. 62
33541191 2022
647
The Notch signaling pathway in skeletal muscle health and disease. 62
35968817 2022
648
Harnessing the benefits of yoga for myositis, muscle dystrophies, and other musculoskeletal disorders. 62
35854165 2022
649
Caveolin 3 suppresses phosphorylation-dependent activation of sarcolemmal nNOS. 62
36084555 2022
650
Natural history of circulating miRNAs in Duchenne disease: Association with muscle injury and metabolic parameters. 62
36000352 2022
651
No difference in postoperative complication rates or cardiopulmonary function for early versus late scoliosis correction in Duchenne muscular dystrophy. 62
35691977 2022
652
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. 62
35897138 2022
653
Guanidino quinazolines and pyrimidines promote readthrough of premature termination codons in cells with native nonsense mutations. 62
36150638 2022
654
Muscle injury induces a transient senescence-like state that is required for myofiber growth during muscle regeneration. 62
36190443 2022
655
Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome. 62
35790299 2022
656
Exogenous Oncostatin M induces Cardiac Dysfunction, Musculoskeletal Atrophy, and Fibrosis. 62
36054964 2022
657
TRPV4 acts as a mitochondrial Ca2+-importer and regulates mitochondrial temperature and metabolism. 62
36261119 2022
658
Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery-Dreifuss Muscular Dystrophy: A Case Report and Literature Review. 62
36250567 2022
659
Inducible deletion of Raptor and mTOR from adult skeletal muscle impairs muscle contractility and relaxation. 62
36255030 2022
660
The effects of 12 weeks' resistance training on psychological parameters and quality of life in adults with Facioscapulohumeral, Becker, and Limb-girdle dystrophies. 62
34340613 2022
661
A novel splice site variant in the POPDC3 causes autosomal recessive limb-girdle muscular dystrophy type 26. 62
35842834 2022
662
Recent advances in our understanding of genetic rhabdomyolysis. 62
35942668 2022
663
The most severe form of LMNA-associated congenital muscular dystrophy. 62
35729056 2022
664
Synthesis and physical and biological properties of 1,3-diaza-2-oxophenoxazine-conjugated oligonucleotides. 62
36057217 2022
665
Classical Signs of a Rare Muscular Dystrophy-A Pictorial Diagnosis. 62
35704215 2022
666
Single-walled carbon nanotube conjugated cytochrome c as exogenous nano catalytic medicine to combat intracellular oxidative stress. 62
36257485 2022
667
Caveolin-3 regulates the activity of Ca2+/calmodulin-dependent protein kinase II in C2C12 cells. 62
35993515 2022
668
Making and breaking the inner nuclear membrane proteome. 62
35870351 2022
669
Ankle flexor torque, size and density are differential determinants of distal tibia trabecular plate-rod morphometry and bone strength: The Ankle Quality Study. 62
36243400 2022
670
Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations. 62
36252992 2022
671
Specific Dystrophins Selectively Associate with Inhibitory and Excitatory Synapses of the Mouse Cerebellum and their Loss Alters Expression of P2X7 Purinoceptors and Pro-Inflammatory Mediators. 62
34101068 2022
672
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing. 62
35912688 2022
673
Comparison of telerehabilitation versus home-based video exercise in patients with Duchenne muscular dystrophy: a single-blind randomized study. 62
35616780 2022
674
The Impact of "Fear of Falling" on Physical Performance, Balance, and Ambulation in Duchenne Muscular Dystrophy. 62
36030791 2022
675
Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45-50 into an induced pluripotent stem cell line (CCMi005-A). 62
35961103 2022
676
Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies. 62
35932452 2022
677
Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy (IGIBi006-A and IGIBi008-A) carrying exonic deletions in the dystrophin gene. 62
36191544 2022
678
Erratum for the Research Article: "Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections". 62
36269837 2022
679
Pharmacological TRPC6 inhibition improves survival and muscle function in mice with Duchenne muscular dystrophy. 62
36099033 2022
680
Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond. 62
36245386 2022
681
Early prophylaxis of cardiomyopathy with beta-blockers and angiotensin receptor blockers in patients with Duchenne muscular dystrophy. 62
35996796 2022
682
The location of protein oxidation in dystrophic skeletal muscle from the mdx mouse model of Duchenne muscular dystrophy. 62
36270048 2022
683
Prognostic factors, disease course, and treatment efficacy in Duchenne muscular dystrophy: A systematic review and meta-analysis. 62
35860996 2022
684
Gene editing of Duchenne muscular dystrophy using biomineralization-based spCas9 variant nanoparticles. 62
36243370 2022
685
A microtubule-Connexin-43 regulatory link suppresses arrhythmias and cardiac fibrosis in Duchenne muscular dystrophy mice. 62
36206047 2022
686
Examination of the relationship between foot-body posture and balance and gait in Duchenne muscular dystrophy. 62
36205913 2022
687
Emergency department care of patients with Duchenne muscular dystrophy. 62
35933945 2022
688
The association between dietary factors and body weight and composition in boys with Duchenne muscular dystrophy. 62
34936149 2022
689
Characterizing the Occurrence of Key Clinical Milestones in Duchenne Muscular Dystrophy in the United States Using Real-World Data. 62
36245384 2022
690
Associations Between Self-Reported Behavioral and Learning Concerns and DMD Isoforms in Duchenne Muscular Dystrophy. 62
36245385 2022
691
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. 62
36036925 2022
692
Perspectives on the advances in the pharmacotherapeutic management of Duchenne muscular dystrophy. 62
36168943 2022
693
Early Myocardial Dysfunction and Benefits of Cardiac Treatment in Young X-Linked Duchenne Muscular Dystrophy Mice. 62
34138361 2022
694
The case for screening in early life for 'non-treatable' disorders: ethics, evidence and proportionality. A report from the Health Council of the Netherlands. 62
35132176 2022
695
A novel mutation in human EMD gene and mitochondrial dysfunction in emerin knockdown cardiomyocytes. 62
36106556 2022
696
Mineralocorticoid receptor antagonists and glucocorticoids differentially affect skeletal muscle inflammation and pathology in muscular dystrophy. 62
36040807 2022
697
Engineered skeletal muscle recapitulates human muscle development, regeneration and dystrophy. 62
36254806 2022
698
Dp71 Point Mutations Induce Protein Aggregation, Loss of Nuclear Lamina Integrity and Impaired Braf35 and Ibraf Function in Neuronal Cells. 62
36233175 2022
699
p-TAK1 acts as a switch between myoblast proliferation phase and differentiation phase in mdx mice via regulating HO-1 expression. 62
36113553 2022
700
The Relation Between Nutritional Intake and Weight in 4-18 Year Old Patients with DMD: What could possibly be done to prevent weight gain? 62
36214005 2022
701
Macroglossia and less advanced dystrophic change in the tongue muscle of the Duchenne muscular dystrophy rat. 62
36258243 2022
702
Diagnosing myasthenia gravis using orthoptic measurements: assessing extraocular muscle fatiguability. 62
36261286 2022
703
Inherited myopathies in patients from Sub-Saharan Africa: Results from a retrospective cohort. 62
36265364 2022
704
The Hidden Disease: Delayed Diagnosis in Duchenne Muscular Dystrophy and Co-Occurring Conditions. 62
35943375 2022
705
2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. 62
35500790 2022
706
De novo variants and recombination at 4q35: hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy. 62
36250762 2022
707
Self-reported reduced sleep quality and excessive daytime sleepiness in facioscapulohumeral muscular dystrophy. 62
35893768 2022
708
ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy. 62
36030628 2022
709
Upregulation of Wilms' Tumor 1 in epicardial cells increases cardiac fibrosis in dystrophic mice. 62
35306537 2022
710
A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery-Dreifuss Type 2: A Case Report. 62
35976242 2022
711
Efficient Downregulation of Alk4 in Skeletal Muscle After Systemic Treatment with Conjugated siRNAs in a Mouse Model for Duchenne Muscular Dystrophy. 62
36269327 2022
712
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related. 62
35731190 2022
713
Whole-Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores. 62
35894554 2022
714
B4GAT1 Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe Ventriculomegaly: Case Report and Review of Literature. 62
34587870 2022
715
Current care practices for patients with Duchenne muscular dystrophy in China. 62
35691779 2022
716
Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb girdle muscular dystrophy. 62
36217604 2022
717
Thermoneutral Housing and a Western Diet Combination Exacerbates Dysferlin-Deficient Muscular Dystrophy. 62
35859452 2022
718
Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report. 62
36253810 2022
719
Beyond Erectile Dysfunction: cGMP-Specific Phosphodiesterase 5 Inhibitors for Other Clinical Disorders. 62
36206989 2022
720
[Anesthesia for thoracic surgery in a female patient with Ullrich congenital muscular dystrophy]. 62
35925158 2022
721
Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy. 62
35859342 2022
722
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy. 62
36197469 2022
723
Nanomedicine for Treating Muscle Dystrophies: Opportunities, Challenges, and Future Perspectives. 62
36233338 2022
724
Trajectory of left ventricular ejection fraction in response to therapies in patients with muscular dystrophy. 62
36198087 2022
725
DUX4 expression activates JNK and p38 MAP kinases in myoblasts. 62
36196640 2022
726
[Rare diseases in the differential diagnosis of myalgia]. 62
36121449 2022
727
Improving Molecular and Histopathology in Diaphragm Muscle of the Double Transgenic ACTA1-MCM/FLExDUX4 Mouse Model of FSHD with Systemic Antisense Therapy. 62
35078334 2022
728
Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France. 62
36270935 2022
729
Transcriptomic profiles of muscular dystrophy with myositis (mdm) in extensor digitorum longus, psoas, and soleus muscles from mice. 62
36115951 2022
730
Combinatorial treatment with exercise and AICAR potentiates the rescue of myotonic dystrophy type 1 mouse muscles in a sex-specific manner. 62
36048859 2022
731
Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study. 62
35922275 2022
732
Systemic sclerosis in a patient with muscle dystrophy. 62
36100284 2022
733
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy. 62
35607917 2022
734
Association of electrocardiographic markers with myocardial fibrosis as assessed by cardiac magnetic resonance in different clinical settings. 62
36187429 2022
735
Evaluation of cardiomyopathy with two-dimensional speckle tracking echocardiography in limb-girdle muscular dystrophy type 2A and 2B. 62
36074078 2022
736
New medicine for neuromuscular diseases: An evolving paradox for patient and family hopes and expectations. 62
36115015 2022
737
Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report. 62
36050749 2022
738
Essen transition model for neuromuscular diseases. 62
36058951 2022
739
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations. 62
36048137 2022
740
Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations. 62
33977792 2022
741
Engineered U1 snRNAs to modulate alternatively spliced exons. 62
35764245 2022
742
A rare case of late-onset limb-girdle muscular dystrophy: Calpainopathy. 62
36247336 2022
743
Reduced plasticity and microtubule densification in muscular dystrophy-related cardiomyopathy. 62
34767017 2022
744
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients. 62
35953344 2022
745
[Genetic testing and prenatal diagnosis of 671 Chinese pedigrees affected with Duchenne/Becker muscular dystrophy]. 62
36082559 2022
746
"Listen to us!" A qualitative study of adolescents with disabilities to help plan a transition service. 62
35229345 2022
747
MicroRNAs as serum biomarkers in Becker muscular dystrophy. 62
35880500 2022
748
Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy. 62
35953292 2022
749
Characteristics and factors associated with mortality due to rare diseases in Chile, 2002-2017 62
36122290 2022
750
Epidemiology of Cardiomyopathy in Taiwanese Population Aged Younger Than 65 Years. 62
36176361 2022
751
Generation of iMyoblasts from Human Induced Pluripotent Stem Cells. 62
36213105 2022
752
Transplantation of PSC-derived myogenic progenitors counteracts disease phenotypes in FSHD mice. 62
36056021 2022
753
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy. 62
36100962 2022
754
Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients. 62
36114172 2022
755
Determining neurodevelopmental manifestations in Duchenne muscular dystrophy using a battery of brief tests. 62
35849899 2022
756
Clinical and imaging clues to the diagnosis and follow-up of ptosis and ophthalmoparesis. 62
36172973 2022
757
A review of surgical management of progressive myogenic ptosis. 62
36178005 2022
758
Misdiagnosis in mucopolysaccharidoses. 62
35562626 2022
759
Meteorin-like protein (Metrnl): A metabolic syndrome biomarker and an exercise mediator. 62
35780711 2022
760
What Is in the Myopathy Literature? 62
36005472 2022
761
Becker Muscular Dystrophy Accompanied by Anti-HMGCR Antibody-positive Immune-mediated Necrotizing Myopathy. 62
36130887 2022
762
GGPS1-associated muscular dystrophy with and without hearing loss. 62
35869884 2022
763
NR1D1 controls skeletal muscle calcium homeostasis through myoregulin repression. 62
35917173 2022
764
Using machine learning algorithms to enhance the diagnostic performance of electrical impedance myography. 62
35727064 2022
765
Sarco(endo)plasmic reticulum Ca2+-ATPase function is impaired in skeletal and cardiac muscles from young DBA/2J mdx mice. 62
36093052 2022
766
The Effect of Uridine on the State of Skeletal Muscles and the Functioning of Mitochondria in Duchenne Dystrophy. 62
36142572 2022
767
Exon skipping induces uniform dystrophin rescue with dose-dependent restoration of serum miRNA biomarkers and muscle biophysical properties. 62
36159597 2022
768
Myofibrillar Lattice Remodeling Is a Structural Cytoskeletal Predictor of Diaphragm Muscle Weakness in a Fibrotic mdx (mdx Cmah-/-) Model. 62
36142754 2022
769
Changes in aquaporins expression due to acute water restriction in naturally aging mice. 62
36127549 2022
770
Dissociation of SH3 and cysteine-rich domain 3 and junctophilin 1 from dihydropyridine receptor in dystrophin-deficient muscles. 62
35912995 2022
771
In vivo restoration of dystrophin expression in mdx mice using intra-muscular and intra-arterial injections of hydrogel microsphere carriers of exon skipping antisense oligonucleotides. 62
36085138 2022
772
Tissue and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms. 62
36130212 2022
773
Loss of full-length dystrophin expression results in major cell-autonomous abnormalities in proliferating myoblasts. 62
36164827 2022
774
Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders. 62
36129972 2022
775
Thiomorpholino oligonucleotides as a robust class of next generation platforms for alternate mRNA splicing. 62
36037350 2022
776
Early-Onset Late Gadolinium Enhancement is a Prognostic Factor for Duchenne Cardiomyopathy. 62
36056946 2022
777
Pregabalin synchronizes the regeneration of nerve and muscle fibers optimizing the gait recovery of MDX dystrophic mice. 62
35998000 2022
778
Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue. 62
36123393 2022
779
miR-486 is essential for muscle function and suppresses a dystrophic transcriptome. 62
35512829 2022
780
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review. 62
36175989 2022
781
Evaluation of the dystrophin carboxy-terminal domain for micro-dystrophin gene therapy in cardiac and skeletal muscles in the DMDmdx rat model. 62
35105949 2022
782
How effective are antioxidants in preventing respiratory decline in individuals with Duchenne muscular dystrophy with progressive worsening of breathing? A Cochrane Review summary with commentary. 62
35746858 2022
783
Population PK and PD Analysis of Domagrozumab in Pediatric Patients with Duchenne Muscular Dystrophy. 62
36104012 2022
784
CRISPR-Based Therapeutic Gene Editing for Duchenne Muscular Dystrophy: Advances, Challenges and Perspectives. 62
36230926 2022
785
Patient life aspirations in the context of Duchenne Muscular Dystrophy: a mixed-methods case-control study. 62
36104592 2022
786
Dystrophin Restoration after Adeno-Associated Virus U7-Mediated Dmd Exon Skipping Is Modulated by Muscular Exercise in the Severe D2-Mdx Duchenne Muscular Dystrophy Murine Model. 62
36113555 2022
787
Cardiac and Pulmonary Management Status of Duchenne Muscular Dystrophy in South Korea Based on Data From the National Health Insurance Database. 62
36062769 2022
788
Delays in pulmonary decline in eteplirsen-treated patients with Duchenne muscular dystrophy. 62
35715998 2022
789
Cathelicidin-related antimicrobial peptide mediates skeletal muscle degeneration caused by injury and Duchenne muscular dystrophy in mice. 62
36059045 2022
790
Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. 62
35949298 2022
791
Emerging therapies for Duchenne muscular dystrophy. 62
35850122 2022
792
Understanding the experiences of lung volume recruitment among boys with Duchenne muscular dystrophy: A multicenter qualitative study. 62
36102618 2022
793
Functional level and its relationship to upper extremity function, pain, and muscle stiffness in children with Duchenne muscular dystrophy. 62
36112314 2022
794
A Comparison of Caregiver and Patient Preferences for Treating Duchenne Muscular Dystrophy. 62
35243571 2022
795
Comprehensive assessment of physical activity correlated with muscle function in canine Duchenne muscular dystrophy. 62
34844013 2022
796
Development of clinical practice guidelines for allied health and nursing assessment and management of Duchenne muscular dystrophy. 62
34165385 2022
797
The Role of Associations in Reducing the Emotional and Financial Impact on Parents Caring for Children with Duchenne Muscular Dystrophy: A Cross-Cultural Study. 62
36231658 2022
798
Cytomorphometric Evaluation of Oral Mucosa of Patients with Duchenne Muscular Dystrophy. 62
35064903 2022
799
Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI. 62
36240102 2022
800
Kynurenine metabolism is altered in mdx mice: a potential muscle to brain connection. 62
35912981 2022
801
Gait and Sit-To-Stand Motor Compensation Strategies in Children and Adolescents With Duchenne Muscular Dystrophy. 62
36121164 2022
802
Family reflections: Duchenne Muscular Dystrophy. 62
36085368 2022
803
Can More Be Done to Identify and Treat Nocturnal Hypoventilation in Children With Duchenne Muscular Dystrophy? 62
35953293 2022
804
Estimating Societal Cost of Illness and Patients' Quality of Life of Duchenne Muscular Dystrophy in Egypt. 62
36162195 2022
805
Genetic modifiers of upper limb function in Duchenne muscular dystrophy. 62
35513612 2022
806
Effects of HOCl oxidation on excitation-contraction coupling: Implications for the pathophysiology of Duchenne muscular dystrophy. 62
34766988 2022
807
Structure-activity relationships of 2-pyrimidinecarbohydrazides as utrophin modulators for the potential treatment of Duchenne muscular dystrophy. 62
35772287 2022
808
Language Development in Preschool Duchenne Muscular Dystrophy Boys. 62
36138988 2022
809
Reduced bone mineral density in adolescents with Duchenne Muscular Dystrophy (DMD) and scoliosis. 62
35583603 2022
810
Chronic pain, psychological distress, and quality of life in males with Duchenne muscular dystrophy. 62
36062920 2022
811
A comprehensive qualitative framework for health-related quality of life in Duchenne muscular dystrophy. 62
36050623 2022
812
Effects of moderate aerobic exercise, low-level laser therapy, or their combination on muscles pathology, oxidative stress and irisin levels in the mdx mouse model of Duchenne muscular dystrophy. 62
35441320 2022
813
Gene Therapy Cargos Based on Viral Vector Delivery. 62
36154608 2022
814
Water T2 could predict functional decline in patients with dysferlinopathy. 62
36058852 2022
815
Initial multicenter experience with ventricular assist devices in children and young adults with muscular dystrophy: An ACTION registry analysis. 62
36270923 2022
816
Postdevelopmental knockout of Orai1 improves muscle pathology in a mouse model of Duchenne muscular dystrophy. 62
35939054 2022
817
A humanized knockin mouse model of Duchenne muscular dystrophy and its correction by CRISPR-Cas9 therapeutic gene editing. 62
36035749 2022
818
Fiber optic Raman spectroscopy for the evaluation of disease state in Duchenne muscular dystrophy: An assessment using the mdx model and human muscle. 62
35762576 2022
819
Siblings' life aspirations in the context of Duchenne muscular dystrophy: a mixed-methods case-control study. 62
36087166 2022
820
Mitochondrial stress responses in Duchenne muscular dystrophy: metabolic dysfunction or adaptive reprogramming? 62
35816642 2022
821
Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy. 62
35654209 2022
822
D3 -creatine dilution for skeletal muscle mass measurement: historical development and current status. 62
36059250 2022
823
Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy. 62
36047345 2022
824
Atrial Flutter in Particular Patient Populations. 62
36153131 2022
825
Activation of SIRT1 promotes membrane resealing via cortactin. 62
36097021 2022
826
Can't handle the stress? Mechanobiology and disease. 62
35717527 2022
827
Bioactive Components in Whole Grains for the Regulation of Skeletal Muscle Function. 62
36140879 2022
828
Senolytic elimination of senescent macrophages restores muscle stem cell function in severely dystrophic muscle. 62
36084954 2022
829
Effect of beam attenuation on muscle ultrasound echogenicity measurement in muscular dystrophies. 62
35596693 2022
830
(-) - Epicatechin improves Tibialis anterior muscle repair in CD1 mice with BaCl2-induced damage. 62
35609849 2022
831
Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior. 62
35989179 2022
832
A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25. 62
36155908 2022
833
[Analysis of TNPO3 gene variant and clinical phenotype in a neonate with limb-girdle muscular dystrophies form 1F]. 62
36082569 2022
834
Regenerative medicine: postnatal approaches. 62
35963270 2022
835
Spinal muscular atrophy carrier frequency in Saudi Arabia. 62
36062320 2022
836
The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction. 62
36168044 2022
837
Surgical treatment of spinal deformities in spinal muscular atrophy: a single-center experience from China. 62
35972554 2022
838
Early respiratory muscle involvement in LGMDR25: a case report. 62
35718670 2022
839
Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up: Quantitative MRI and Clinical Outcome Measures. 62
35577579 2022
840
Exercise-Induced Rhabdomyolysis Causing Acute Kidney Injury: A Potential Threat to Gym Lovers. 62
36127953 2022
841
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease. 62
35690317 2022
842
Management of patients susceptible to malignant hyperthermia: A surgeon's perspective. 62
35660936 2022
843
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. 62
35734998 2022
844
Mechanisms of skeletal muscle repair and regeneration in health and disease. 62
35929418 2022
845
TBX1 regulates myogenic differentiation by activating the TGFβ-Smad2/3 pathway in myoblasts. 62
36036218 2022
846
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy. 62
35962550 2022
847
Routine lung volume recruitment in boys with Duchenne muscular dystrophy: a randomised clinical trial. 62
35236763 2022
848
Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges. 62
35751502 2022
849
Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing. 62
35428841 2022
850
Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab. 62
35396602 2022
851
[Genetic analysis for a child with comorbid X-linked ichthyosis and Duchenne muscular dystrophy]. 62
35929940 2022
852
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy. 62
35385138 2022
853
The association between cardiac involvement and long-term clinical outcomes in patients with Duchenne muscular dystrophy. 62
35579098 2022
854
'Our time is precious': An exploration of parental feeding behaviours for boys with Duchenne muscular dystrophy. 62
36027594 2022
855
Back to basics: the respiratory management of Duchenne muscular dystrophy. 62
35470244 2022
856
Age at diagnosis for Duchenne muscular dystrophy: Why we must do better. 62
35560237 2022
857
Orthotopic Heart Transplantation in Manifesting Carrier of Duchenne Muscular Dystrophy. 62
34670720 2022
858
Macrophage plasticity in Duchenne muscular dystrophy: a nexus of pathological remodelling with therapeutic implications. 62
34904234 2022
859
Exploring the Therapeutic Potential of Ectoine in Duchenne Muscular Dystrophy: Comparison with Taurine, a Supplement with Known Beneficial Effects in the mdx Mouse. 62
36076964 2022
860
Partial Restoration of Brain Dystrophin and Behavioral Deficits by Exon Skipping in the Muscular Dystrophy X-Linked (mdx) Mouse. 62
35587226 2022
861
Breathing new life into therapies for Duchenne muscular dystrophy. 62
35908978 2022
862
Time to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000-2015. 62
35312090 2022
863
Long-Term Biodistribution and Safety of Human Dystrophin Expressing Chimeric Cell Therapy After Systemic-Intraosseous Administration to Duchenne Muscular Dystrophy Model. 62
35978142 2022
864
Defining ambulation status in patients with Duchenne muscular dystrophy using the 10-metre walk test and the motor function measure scale. 62
35980858 2022
865
Breathing in Duchenne muscular dystrophy: translation to therapy. 62
35620971 2022
866
Mitochonic Acid 5 Improves Duchenne Muscular Dystrophy and Parkinson's Disease Model of Caenorhabditis elegans. 62
36076995 2022
867
Bioenergetic and Metabolic Impairments in Induced Pluripotent Stem Cell-Derived Cardiomyocytes Generated from Duchenne Muscular Dystrophy Patients. 62
36077200 2022
868
Bedside evaluation of swallowing function to predict aspiration pneumonia in Duchenne muscular dystrophy. 62
35973890 2022
869
Characterisation of Progressive Skeletal Muscle Fibrosis in the Mdx Mouse Model of Duchenne Muscular Dystrophy: An In Vivo and In Vitro Study. 62
35955872 2022
870
The Relationship between Obesity and Clinical Outcomes in Young People with Duchenne Muscular Dystrophy. 62
36014811 2022
871
Electrocardiographic features of children with Duchenne muscular dystrophy. 62
35987773 2022
872
Prednisone and deflazacort in Duchenne muscular dystrophy: a patient perspective and plain language summary publication of the Cincinnati study. 62
35713895 2022
873
Responsiveness and Minimal Clinically Important Difference of the Chinese Version of the Motor Function Measure-32 in Children and Adolescents with Duchenne Muscular Dystrophy. 62
34964685 2022
874
The effect of aerobic training on motor function and muscle architecture in children with Duchenne muscular dystrophy: A randomized controlled study. 62
35443813 2022
875
LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients. 62
36011296 2022
876
2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases. 62
35994666 2022
877
Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy. 62
35868898 2022
878
Disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exchange factors. 62
35931773 2022
879
Laminin α5_CD239_Spectrin is a candidate association that compensates the linkage between the basement membrane and cytoskeleton in skeletal muscle fibers. 62
35990309 2022
880
Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and Cardiomyocytes. 62
36012442 2022
881
Enhanced exon skipping and prolonged dystrophin restoration achieved by TfR1-targeted delivery of antisense oligonucleotide using FORCE conjugation in mdx mice. 62
35944903 2022
882
A New Method of Myostatin Inhibition in Mice via Oral Administration of Lactobacillus casei Expressing Modified Myostatin Protein, BLS-M22. 62
36012334 2022
883
Botulinum toxin treatment improves dysphagia in patients with oculopharyngeal muscular dystrophy and sporadic inclusion body myositis. 62
35244767 2022
884
Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole-body fat-referenced MRI: Protocol development, multicenter feasibility, and repeatability. 62
35585766 2022
885
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis. 62
35237874 2022
886
Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and Cross-sectional Analysis. 62
35750498 2022
887
Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD. 62
36078093 2022
888
Surgical treatment for lumbar hyperlordosis associated with facioscapulohumeral muscular dystrophy: A case series. 62
35999089 2022
889
Interaction between mesenchymal stem cells and myoblasts in the context of facioscapulohumeral muscular dystrophy contributes to the disease phenotype. 62
35621301 2022
890
Transcript-Targeted Therapy Based on RNA Interference and Antisense Oligonucleotides: Current Applications and Novel Molecular Targets. 62
36012138 2022
891
Spontaneous Coronary Artery Dissection in Children with Duchenne Muscular Dystrophy. 62
35949133 2022
892
The clinical use of impulse oscillometry in neuromuscular diseases. 62
35858508 2022
893
Incidence and prevalence of 121 rare diseases in China: Current status and challenges: 2022 revision. 62
36200031 2022
894
Author Correction: Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. 62
35918519 2022
895
Dysferlinopathies: Clinical and genetic variability. 62
36029111 2022
896
Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report. 62
36042458 2022
897
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene. 62
36077211 2022
898
Dosage-Adjusted Resistance Training in Mice with a Reduced Risk of Muscle Damage. 62
36121282 2022
899
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B. 62
36012197 2022
900
A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family. 62
35951155 2022
901
Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India. 62
35579050 2022
902
Medication use during pregnancy among women with congenital physical disabilities. 62
35652163 2022
903
Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons. 62
35945271 2022
904
DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients. 62
34776509 2022
905
Contributions of Titin and Collagen to Passive Stress in Muscles from mdm Mice with a Small Deletion in Titin's Molecular Spring. 62
36012129 2022
906
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. 62
35971866 2022
907
Retinal Vascular Disease in Limb-Girdle Muscular Dystrophy. 62
36007191 2022
908
Eosinophilic myositis: could it be an adult-onset dystrophy? 62
35863881 2022
909
Quality of instruments assessing activity and participation of people with muscular dystrophy: A systematic review of participant-reported outcome measures. 62
35862363 2022
910
Myocardial strain analysis by cardiac magnetic resonance 3D feature-tracking identifies subclinical abnormalities in patients with neuromuscular disease and no overt cardiac involvement. 62
35793360 2022
911
Sphingosine Phosphate Lyase Is Upregulated in Duchenne Muscular Dystrophy, and Its Inhibition Early in Life Attenuates Inflammation and Dystrophy in Mdx Mice. 62
35886926 2022
912
Successful transcatheter mitral valve repair with the MitraClip system in a patient with Duchenne muscular dystrophy. 62
35923537 2022
913
Perry Syndrome with a Novel Mutation and a Rare Presentation: First Report from India. 62
36211137 2022
914
Osteoporosis in children and adolescents: when to suspect and how to diagnose it. 62
35384509 2022
915
Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy. 62
35584395 2022
916
Generation of Calpain-3 knock-out porcine embryos by CRISPR-Cas9 electroporation and intracytoplasmic microinjection of oocytes before insemination. 62
35500431 2022
917
A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype? 62
35274444 2022
918
Mutation update: The spectra of PLEC sequence variants and related plectinopathies. 62
35815343 2022
919
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. 62
35175440 2022
920
Baseline fat fraction is a strong predictor of disease progression in Becker muscular dystrophy. 62
35032073 2022
921
Body composition and myokines in a cohort of patients with Becker muscular dystrophy. 62
35474226 2022
922
Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy. 62
35846917 2022
923
Generation of a human induced pluripotent stem cell line (INNDSUi003-A) derived from patient with Becker muscular dystrophy (BMD). 62
35526387 2022
924
Histological analysis of a Becker muscular dystrophy case, diurnal expression of dystrophin in control mice and decreased expression of dystrophin in Bmal1 knockout mice. 62
35876434 2022
925
A Parallel Need for Cardiovascular Care for Female Carriers of Duchenne and Becker Muscular Dystrophy. 62
35490928 2022
926
Comprehensive multi-cohort transcriptional meta-analysis of muscle diseases identifies a signature of disease severity. 62
35789175 2022
927
Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders. 62
35897115 2022
928
Beware of missed diagnosis in patients with multiple genetic diseases: a case report. 62
35858850 2022
929
Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. 62
35428982 2022
930
Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy. 62
35147730 2022
931
Long-Term Systemic Treatment of a Mouse Model Displaying Chronic FSHD-like Pathology with Antisense Therapeutics That Inhibit DUX4 Expression. 62
35884928 2022
932
Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy. 62
35815498 2022
933
Evaluation of Myocardial Strain by 2-Dimensional Speckle Tracking Echocardiography in Patients with Facioscapulohumeral Muscular Dystrophy. 62
35791708 2022
934
Epigenetic modifier SMCHD1 maintains a normal pool of long-term hematopoietic stem cells. 62
35856023 2022
935
Prevalence of Neuropsychiatric Disorders in Duchenne and Becker Muscular Dystrophies: A Systematic Review and Meta-analysis. 62
35839922 2022
936
Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis. 62
35857791 2022
937
The prevalence and clinical characteristics of anti-HMGCR (anti-3-hydroxy-3-methyl-glutaryl-coenzyme A reductase) antibodies in idiopathic inflammatory myopathy: an analysis from the MyoCite registry. 62
35031847 2022
938
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1). 62
35660068 2022
939
Serum extracellular vesicles for delivery of CRISPR-CAS9 ribonucleoproteins to modify the dystrophin gene. 62
35619556 2022
940
Inactivation of Sirt6 ameliorates muscular dystrophy in mdx mice by releasing suppression of utrophin expression. 62
35859073 2022
941
Size-tunable PEG-grafted copolymers as a polymeric nanoruler for passive targeting muscle tissues. 62
35613686 2022
942
Morbidity and mortality associated with gastrointestinal dysfunction in neuromuscular disease: a single-centre case series. 62
35613949 2022
943
A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy. 62
35165376 2022
944
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49. 62
35886062 2022
945
An engineered multicellular stem cell niche for the 3D derivation of human myogenic progenitors from iPSCs. 62
35703167 2022
946
A Novel Method for Detecting Duchenne Muscular Dystrophy in Blood Serum of mdx Mice. 62
36011258 2022
947
Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy. 62
35886024 2022
948
Smad8 Is Increased in Duchenne Muscular Dystrophy and Suppresses miR-1, miR-133a, and miR-133b. 62
35886863 2022
949
[Analysis of results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy in the central plain region of China]. 62
35810418 2022
950
Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan. 62
35562557 2022
951
A medium-chain triglyceride containing ketogenic diet exacerbates cardiomyopathy in a CRISPR/Cas9 gene-edited rat model with Duchenne muscular dystrophy. 62
35803994 2022
952
Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne muscular dystrophy from MD STARnet. 62
34994466 2022
953
Casimersen for the treatment of Duchenne muscular dystrophy. 62
35581038 2022
954
CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies. 62
35909075 2022
955
Seated Outcome Measures in Children With Duchenne Muscular Dystrophy. 62
35653235 2022
956
Corticosteroids after loss of ambulation in Duchenne muscular dystrophy: A dilemma for the ages. 62
35377952 2022
957
Antioxidant effects of bis-indole alkaloid indigo and related signaling pathways in the experimental model of Duchenne muscular dystrophy. 62
35687225 2022
958
Utilization of T1-Mapping for the pelvic and thigh muscles in Duchenne Muscular Dystrophy: a quantitative biomarker for disease involvement and correlation with clinical assessments. 62
35842609 2022
959
Corticosteroid use and bone health management for Duchenne muscular dystrophy in South Korea. 62
35788153 2022
960
Commentary on "Seated Outcome Measures in Children With Duchenne Muscular Dystrophy". 62
35776976 2022
961
Pig models for Duchenne muscular dystrophy - from disease mechanisms to validation of new diagnostic and therapeutic concepts. 62
35659494 2022
962
Unmet Therapeutic Needs of Non-Ambulatory Patients with Duchenne Muscular Dystrophy: A Mixed-Method Analysis. 62
35325439 2022
963
Effectiveness of Neridronate in the Management of Bone Loss in Patients with Duchenne Muscular Dystrophy: Results from a Pilot Study. 62
35614293 2022
964
MicroRNAs in Dystrophinopathy. 62
35887128 2022
965
Proteomic profiling of impaired excitation-contraction coupling and abnormal calcium handling in muscular dystrophy. 62
35902360 2022
966
Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns. 62
36076667 2022
967
Computerized working memory training in males with Duchenne muscular dystrophy: A single case experimental design study. 62
35876193 2022
968
Sunitinib inhibits STAT3 phosphorylation in cardiac muscle and prevents cardiomyopathy in the mdx mouse model of Duchenne muscular dystrophy. 62
35157045 2022
969
Dystrophic Cardiomyopathy and Patients With Muscular Dystrophies. 62
35500754 2022
970
Distinct roles of the dystrophin-glycoprotein complex: α-dystrobrevin and α-syntrophin in the maintenance of the postsynaptic apparatus of the neuromuscular synapse. 62
35157076 2022
971
Epileptic disorders in Becker and Duchenne muscular dystrophies: a systematic review and meta-analysis. 62
35229191 2022
972
Exposure of Pedicle Screws due to Chronic Vertebral Erosion by Tracheostomy Tube Cuff Balloon: A Case Report. 62
35962735 2022
973
A force-based human machine interface to drive a motorized upper limb exoskeleton. a pilot study. 62
36176155 2022
974
Quantification of Intra-Muscular Adipose Infiltration in Calf/Thigh MRI Using Fully and Weakly Supervised Semantic Segmentation. 62
35877366 2022
975
Multiple LEDT wavelengths modulate the Akt signaling pathways and attenuate pathological events in mdx dystrophic muscle cells. 62
35380391 2022
976
The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy. 62
35886995 2022
977
Generation of human myogenic progenitors from pluripotent stem cells for in vivo regeneration. 62
35802202 2022
978
Enacting objects and subjects in a children's rehabilitation clinic: Default and shifting ontological politics of muscular dystrophy care. 62
33135493 2022
979
Selective ablation of Nfix in macrophages attenuates muscular dystrophy by inhibiting fibro-adipogenic progenitor-dependent fibrosis. 62
35297529 2022
980
A conserved annexin A6-mediated membrane repair mechanism in muscle, heart, and nerve. 62
35866481 2022
981
Amelioration of muscle and nerve pathology of Lama2-related dystrophy by AAV9-laminin-αLN linker protein. 62
35639486 2022
982
Effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model. 62
35182274 2022
983
[Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy]. 62
35810429 2022
984
LAMA2-related muscular dystrophy mimicking multiple sclerosis. 62
35868801 2022
985
Inducible Heat Shock Protein 70 Levels in Patients and the mdx Mouse Affirm Regulation during Skeletal Muscle Regeneration in Muscular Dystrophy. 62
36137979 2022
986
Early cardiac rehabilitation after heart transplantation in a patient with limb-girdle muscular dystrophy: A case report. 62
35905204 2022
987
Emery-Dreifuss muscular dystrophy with dilated cardiomyopathy preceding skeletal muscle symptoms. 62
34819192 2022
988
Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern. 62
35743126 2022
989
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy. 62
35373496 2022
990
Decoding the genetics of rare disease: an interview with Monkol Lek. 62
35762399 2022
991
Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations. 62
35402076 2022
992
The many roles of dystroglycan in nervous system development and function: Dystroglycan and neural circuit development: Dystroglycan and neural circuit development. 62
35770940 2022
993
Heart transplantation in muscular dystrophy: Single-center analysis. 62
35293038 2022
994
[Muscular Dystrophy]. 62
35676214 2022
995
Rare meets rarer: anti-synthetase syndrome in a patient with facio-scapulo-humeral muscular dystrophy. 62
35642862 2022
996
FACS-isolation and Culture of Fibro-Adipogenic Progenitors and Muscle Stem Cells from Unperturbed and Injured Mouse Skeletal Muscle. 62
35758697 2022
997
Cancer Malignancy Is Correlated with Upregulation of PCYT2-Mediated Glycerol Phosphate Modification of α-Dystroglycan. 62
35743105 2022
998
Messenger RNA brings gene editing a step closer to treat muscular dystrophies. 62
35505962 2022
999
mRNA-mediated delivery of gene editing tools to human primary muscle stem cells. 62
35356683 2022
1000
Creatine kinase-MM concentration in dried blood spots from newborns and implications for newborn screening for Duchenne muscular dystrophy. 62
35307847 2022
1001
Do NGS-based techniques represent a first-line testing in suspected Duchenne muscular dystrophy? 62
35662779 2022
1002
Iron overload and impaired iron handling contribute to the dystrophic pathology in models of Duchenne muscular dystrophy. 62
35249268 2022
1003
Focus on the road to modelling cardiomyopathy in muscular dystrophy. 62
34254111 2022
1004
Impact of the COVID-19 pandemic on neuromuscular rehabilitation setting. Part 2: patients and families' views on the received health care during the pandemic. 62
35832506 2022
1005
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care. 62
35932090 2022
1006
Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy. 62
35618576 2022
1007
Current Practices in Treating Cardiomyopathy and Heart Failure in Duchenne Muscular Dystrophy (DMD): Understanding Care Practices in Order to Optimize DMD Heart Failure Through ACTION. 62
35024902 2022
1008
Food and Drug Administration Lifts Clinical Hold on Pfizer Duchenne Muscular Dystrophy Gene Therapy Linked to Patient Death. 62
35696528 2022
1009
Incidence of Duchenne muscular dystrophy in the modern era; an Australian study. 62
35754057 2022
1010
Palliative care in Duchenne muscular dystrophy: Goals of care discussions and beyond. 62
35362613 2022
1011
Bone quality in Duchenne muscular dystrophy. 62
35277840 2022
1012
Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network. 62
35597713 2022
1013
Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy. 62
35396091 2022
1014
Molecular mechanisms of Duchenne muscular dystrophy and new therapeutic strategies 62
35792643 2022
1015
Assessment of the relationship between disease progression and goals of care by individuals with Duchenne muscular dystrophy and their caregivers. 62
35119694 2022
1016
Dupilumab for the treatment of severe atopic dermatitis in a 19-year-old man with Duchenne muscular dystrophy accompanied by heart failure: A case report. 62
35179274 2022
1017
Cardiovascular Disease in Duchenne Muscular Dystrophy: Overview and Insight Into Novel Therapeutic Targets. 62
35818510 2022
1018
Reliability and validity of upper limb short questionnaire for Duchenne muscular dystrophy. 62
33027595 2022
1019
Alternative instrument for the evaluation of handgrip strength in Duchenne muscular dystrophy. 62
35689212 2022
1020
Factors associated with the health-related quality of life among people with Duchenne muscular dystrophy: a study using the Health Utilities Index (HUI). 62
35690783 2022
1021
Bone quality in Duchenne muscular dystrophy. 62
35267176 2022
1022
Optimized lentiviral vector to restore full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy. 62
35615709 2022
1023
Chest Pain and Electrocardiographic Changes in a Child With Duchenne Muscular Dystrophy. 62
35747106 2022
1024
Dystrophin Protein Quantification as a Duchenne Muscular Dystrophy Diagnostic Biomarker in Dried Blood Spots Using Multiple Reaction Monitoring Tandem Mass Spectrometry: A Preliminary Study. 62
35744792 2022
1025
Longitudinal changes in cardiac function in Duchenne muscular dystrophy population as measured by magnetic resonance imaging. 62
35681116 2022
1026
Pain characteristics among individuals with Duchenne muscular dystrophy according to their clinical stage. 62
35659210 2022
1027
COVID-19 in a Patient With Duchenne Muscular Dystrophy. 62
35608650 2022
1028
Metabolic reprogramming of skeletal muscle by resident macrophages points to CSF1R inhibitors as muscular dystrophy therapeutics. 62
35767650 2022
1029
Modulation of RNA Splicing by Oligonucleotides: Mechanisms of Action and Therapeutic Implications. 62
35166605 2022
1030
SNTA1 gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients. 62
35762211 2022
1031
pH-Responsive Polymer Nanoparticles for Efficient Delivery of Cas9 Ribonucleoprotein With or Without Donor DNA. 62
35119139 2022
1032
Long-term maintenance of dystrophin expression and resistance to injury of skeletal muscle in gene edited DMD mice. 62
35402069 2022
1033
Determinants of epigenetic resistance to HDAC inhibitors in dystrophic fibro-adipogenic progenitors. 62
35383427 2022
1034
Cardio-respiratory and phenotypic rescue of dystrophin/utrophin-deficient mice by combination therapy. 62
35393769 2022
1035
NAD+ centric mechanisms and molecular determinants of skeletal muscle disease and aging. 62
35334034 2022
1036
Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies. 62
35740450 2022
1037
Deciphering the Molecular Mechanism of Incurable Muscle Disease by a Novel Method for the Interpretation of miRNA Dysregulation. 62
35893231 2022
1038
Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders. 62
35278044 2022
1039
Angiotensin receptor-neprilysin inhibitor in symptomatic patients with Duchenne dilated cardiomyopathy: A primetime. 62
35712811 2022
1040
Muscle regeneration affects Adeno Associated Virus 1 mediated transgene transcription. 62
35690627 2022
1041
Comparison of dystrophin expression following gene editing and gene replacement in an aged preclinical DMD animal model. 62
35143959 2022
1042
Sarcoplasmic reticulum calcium handling in unbranched, immediately post-necrotic fast-twitch mdx fibres is similar to wild-type littermates. 62
35471703 2022
1043
Satellite cell-specific deletion of Cipc alleviates myopathy in mdx mice. 62
35705041 2022
1044
Unusual complications of non-invasive mechanical ventilation (NIV) and high-flow nasal cannula (HFNC): A systematic review. 62
35785884 2022
1045
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly. 62
35202461 2022
1046
Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review. 62
35725460 2022
1047
Is it really myositis? Mimics and pitfalls. 62
35752578 2022
1048
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report. 62
35832501 2022
1049
A negative feedback loop between fibroadipogenic progenitors and muscle fibres involving endothelin promotes human muscle fibrosis. 62
35319169 2022
1050
Caveolar and non-Caveolar Caveolin-1 in ocular homeostasis and disease. 62
35729002 2022
1051
What Do We Need to Know About Musculoskeletal Manifestations of COVID-19?: A Systematic Review. 62
35658089 2022
1052
The "wrench-head" appearance of thigh muscle CT in infantile facioscapulohumeral muscular dystrophy. 62
34050500 2022
1053
Exercise Intolerance in Facioscapulohumeral Muscular Dystrophy. 62
35195100 2022
1054
Cognitive profile and neuropsychiatric disorders in Becker muscular dystrophy: A systematic review of literature. 62
35367224 2022
1055
Multiple breath washout lung function reveals ventilation inhomogeneity unresponsive to mechanical assisted cough in patients with neuromuscular disease. 62
35659287 2022
1056
Control of backbone chemistry and chirality boost oligonucleotide splice switching activity. 62
35061895 2022
1057
Stable-Isotope Dilution GC-MS Measurement of Metformin in Human Serum and Urine after Derivatization with Pentafluoropropionic Anhydride and Its Application in Becker Muscular Dystrophy Patients Administered with Metformin, l-Citrulline, or Their Combination. 62
35744973 2022
1058
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study. 62
35943031 2022
1059
Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy. 62
36152336 2022
1060
Dystrophin missense mutations alter focal adhesion tension and mechanotransduction. 62
35700360 2022
1061
Disease Progression Stages and Burden in Patients with Duchenne Muscular Dystrophy Using Administrative Claims Supplemented by Electronic Medical Records. 62
35460510 2022
1062
The Use of Autologous Blood Patch in Ullrich Muscular Dystrophy and Recurrent Pneumothorax. 62
35812575 2022
1063
Diffuse Anaplastic Wilms Tumor in a Child With LAMA2-related Muscular Dystrophy. 62
35731920 2022
1064
Synaptic alterations as a neurodevelopmental trait of Duchenne muscular dystrophy. 62
35390481 2022
1065
Clinical Implications of Routine Monitoring of Pulmonary Function and Ventilation in Patients with Duchenne Muscular Dystrophy. 62
35619582 2022
1066
MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy. 62
35767654 2022
1067
Muscle biopsy in myositis: What the rheumatologist needs to know. 62
35773136 2022
1068
[Rare diseases in the differential diagnosis of myalgia]. 62
35486202 2022
1069
Canine DUXC: implications for DUX4 retrotransposition and preclinical models of FSHD. 62
34888646 2022
1070
Molecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screening. 62
35479399 2022
1071
Residual force enhancement is reduced in permeabilized fiber bundles from mdm muscles. 62
35514253 2022
1072
Cardiac MRI of Hereditary Cardiomyopathy. 62
35275782 2022
1073
Oculopharyngeal muscular dystrophy coexisting with myasthenia gravis. 62
35534195 2022
1074
Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands. 62
35112761 2022
1075
Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome. 62
35707590 2022
1076
Key Facilitator Proteins that Mediate Sarcolemma Membrane Repair have Potential as Therapeutics for Muscle Disease and Injury. 62
35560432 2022
1077
Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases. 62
35549971 2022
1078
Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update. 62
35562158 2022
1079
Development and validation of the patient-reported "Facial Function Scale" for facioscapulohumeral muscular dystrophy. 62
35575310 2022
1080
FSHD Therapeutic Strategies: What Will It Take to Get to Clinic? 62
35743650 2022
1081
Proximity ligation assay to detect DUX4 protein in FSHD1 muscle: a pilot study. 62
35538497 2022
1082
Dynamic magnetic resonance imaging of muscle contraction in facioscapulohumeral muscular dystrophy. 62
35508609 2022
1083
Multimodal Imaging Findings in Retinopathy Associated with Facioscapulohumeral Muscular Dystrophy before and after Treatment with Intravitreal Aflibercept and Laser Photocoagulation. 62
36160481 2022
1084
The evolution of DUX4 gene regulation and its implication for facioscapulohumeral muscular dystrophy. 62
35158020 2022
1085
Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic stress as potential therapeutic target. 62
35248827 2022
1086
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach. 62
35509380 2022
1087
Rationally designed nanoparticle delivery of Cas9 ribonucleoprotein for effective gene editing. 62
35247491 2022
1088
Basic requirements to establish a neuromuscular laboratory. 62
35562155 2022
1089
Macroglossia in a pig diagnosed as Becker muscular dystrophy due to dystrophin pseudoexon insertion derived from intron 26. 62
35220848 2022
1090
Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort. 62
35524238 2022
1091
Congenital myopathies: The current status. 62
35562159 2022
1092
Identifiable universal fluorescent multiplex PCR equipped with capillary electrophoresis for genotyping of exons 1 to 5 in human red and green pigment genes. 62
35033897 2022
1093
Altered Activation of Inflammatory Signaling with Diet-induced Insulin Resistance in the Dystrophic Diaphragm. 62
35554857 2022
1094
Characterization of the Three Dimensional Genome in Human Skeletal Muscle Progenitor Cells. 62
35553193 2022
1095
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies. 62
35628876 2022
1096
Modulating Intramuscular Fat Infiltration by Small Molecules. 62
35552908 2022
1097
The Differential Contribution of TRIM72/MG53 Protein Domains in Plasma Membrane Repair. 62
35553558 2022
1098
A Guide to Examining Intramuscular Fat Formation and its Cellular Origin in Skeletal Muscle. 62
35695517 2022
1099
Quantifying the Benefits of Digital Biomarkers and Technology-Based Study Endpoints in Clinical Trials: Project Moneyball. 62
35949224 2022
1100
Gene therapy for neuromuscular disorders: prospects and ethics. 62
34462265 2022
1101
Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching. 62
34761268 2022
1102
Assessing Contractility of 3D iPSC-derived Muscle Models for Safety and Discovery Using a Novel, High-throughput, and Label-free Instrumentation Platform. 62
35554664 2022
1103
Inhibition of YAP signaling improves recovery in injured skeletal muscle. 62
35553572 2022
1104
Accessory Muscle Support of Breathing in Young Dystrophin-deficient mdx Mice. 62
35553932 2022
1105
A Highly Sensitive CRISPR-Empowered Surface Plasmon Resonance Sensor for Diagnosis of Inherited Diseases with Femtomolar-Level Real-Time Quantification. 62
35343100 2022
1106
CD38-NADase is a new major contributor to Duchenne muscular dystrophic phenotype. 62
35298089 2022
1107
12-Month changes of muscle strength, body composition and physical activity in adults with dystrophinopathies. 62
32853037 2022
1108
Leveraging cardiac magnetic resonance imaging to assess skeletal muscle progression in Duchenne muscular dystrophy. 62
35300894 2022
1109
Treatment with cardiosphere-derived cells could slow progress of Duchenne muscular dystrophy. 62
35396359 2022
1110
Myxomavirus Serp-1 Protein Ameliorates Inflammation in a Mouse Model of Duchenne Muscular Dystrophy. 62
35625891 2022
1111
The gRNA Vector Level Determines the Outcome of Systemic AAV CRISPR Therapy for Duchenne Muscular Dystrophy. 62
35350865 2022
1112
Paeonia lactiflora extract improves the muscle function of mdx mice, an animal model of Duchenne muscular dystrophy, via downregulating the high mobility group box 1 protein. 62
35149132 2022
1113
Direct costs of adhering to selected Duchenne muscular dystrophy Care Considerations: Estimates from a midwestern state. 62
35064961 2022
1114
Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing. 62
35218518 2022
1115
[Sickness and quality of life in adults with Duchenne muscular dystrophy]. 62
35656606 2022
1116
Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy. 62
35195227 2022
1117
Acute perimyocarditis mimicking acute myocardial infarction in a 12-year-old boy with duchenne muscular dystrophy. 62
34634842 2022
1118
Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy. 62
35608735 2022
1119
Chromosome Microarray Analysis Detection of a Single Exon Deletion of the Duchenne Muscular Dystrophy Gene in a Fetus: a Case Report. 62
35536067 2022
1120
Obesity and loss of ambulation are associated with lower extremity oedema in Duchenne muscular dystrophy. 62
35549789 2022
1121
Brain-derived Neurotrophic Factor in Duchenne Muscular Dystrophy Myopathy. 62
35560271 2022
1122
Impact of Heat Therapy on Skeletal Muscle Mass and Function in A Mouse Model of Duchenne Muscular Dystrophy. 62
35553560 2022
1123
Deflazacort dose optimization and safety evaluation in Duchenne muscular dystrophy (DOSE): A randomized, double-blind non-inferiority trial. 62
35500465 2022
1124
Long-Term Protective Effect of Human Dystrophin Expressing Chimeric (DEC) Cell Therapy on Amelioration of Function of Cardiac, Respiratory and Skeletal Muscles in Duchenne Muscular Dystrophy. 62
35590083 2022
1125
The development of a consensus statement for the prescription of powered wheelchair standing devices in Duchenne muscular dystrophy. 62
32878485 2022
1126
Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy. 62
35501714 2022
1127
Evaluating the Feasibility and Reliability of Remotely Delivering and Scoring the North Star Ambulatory Assessment in Ambulant Patients with Duchenne Muscular Dystrophy. 62
35626905 2022
1128
Electron microscopy in the diagnosis of skeletal muscle disorders: Its utility and limitations. 62
35562161 2022
1129
Serum cardiac troponin I is a candidate biomarker for cardiomyopathy in Duchenne and Becker muscular dystrophies. 62
35174514 2022
1130
CRISPR/Cas9-based genome editing for the modification of multiple duplications that cause Duchenne muscular dystrophy. 62
35534612 2022
1131
Prime Editing Permits the Introduction of Specific Mutations in the Gene Responsible for Duchenne Muscular Dystrophy. 62
35682838 2022
1132
FKRP directed fibronectin glycosylation: A novel mechanism giving insights into muscular dystrophies? 62
35229908 2022
1133
Forced activation of dystrophin transcription by CRISPR/dCas9 reduced arrhythmia susceptibility via restoring membrane Nav1.5 distribution. 62
35644811 2022
1134
Physical optimization of cell proliferation and differentiation using spinner flask and microcarriers. 62
35639184 2022
1135
IL-17A-producing γδT cells promote muscle regeneration in a microbiota-dependent manner. 62
35380608 2022
1136
Activation of the ATX/LPA/LPARs axis induces a fibrotic response in skeletal muscle. 62
35385768 2022
1137
Nanomedicine, a valuable tool for skeletal muscle disorders: Challenges, promises, and limitations. 62
35092179 2022
1138
Tranilast for advanced heart failure in patients with muscular dystrophy: a single-arm, open-label, multicenter study. 62
35578298 2022
1139
Extracellular Matrix and Skeletal Muscle Development, Homeostasis, and Disease. 62
35554183 2022
1140
Large1 gene transfer in older myd mice with severe muscular dystrophy restores muscle function and greatly improves survival. 62
35613260 2022
1141
Depletion of skeletal muscle satellite cells attenuates pathology in muscular dystrophy. 62
35618700 2022
1142
Generation of Skeletal Muscle Organoids from Human Pluripotent Stem Cells to Model Myogenesis and Muscle Regeneration. 62
35563499 2022
1143
Protocol-driven early tracheal extubation in patients with flaccid neuromuscular scoliosis and pre-existing lung disease. 62
35067898 2022
1144
ST-elevation myocardial infarction in a young patient with Duchenne's muscular dystrophy: a case report. 62
35582544 2022
1145
Congenital Muscular Dystrophy due to POMGNT1 Mutation Presenting as Cardioembolic Stroke. 62
35936628 2022
1146
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort. 62
34559299 2022
1147
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain. 62
35595401 2022
1148
Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family. 62
35239051 2022
1149
The therapeutic potential of soluble activin type IIB receptor treatment in a limb girdle muscular dystrophy type 2D mouse model. 62
35465969 2022
1150
[Inhibition of TRPV2 Channel Activation by NK-4, a Cryptocyanine Dye]. 62
35228454 2022
1151
Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26. 62
35075722 2022
1152
Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles. 62
35563815 2022
1153
The diagnostic value of T2 map, diffusion tensor imaging, and diffusion kurtosis imaging in differentiating dermatomyositis from muscular dystrophy. 62
33641450 2022
1154
Skeletal muscle phenotyping of Hippo gene-mutated mice reveals that Lats1 deletion increases the percentage of type I muscle fibers. 62
34984591 2022
1155
Nanomaterial for Skeletal Muscle Regeneration. 62
35334091 2022
1156
CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model. 62
35422047 2022
1157
[An analysis of the family structure in a case of Baker muscular dystrophy]. 62
35340192 2022
1158
Hybrid management of dysphagia lusoria in a boy with Duchenne's muscular dystrophy. 62
35414368 2022
1159
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts. 62
35457228 2022
1160
Application of Droplet Digital PCR Technology in Muscular Dystrophies Research. 62
35563191 2022
1161
Whole-genome sequencing reveals the artificial selection and local environmental adaptability of pigeons (Columba livia). 62
35505885 2022
1162
CRISPR-Cas9 Gene Therapy for Duchenne Muscular Dystrophy. 62
35165856 2022
1163
Cytoplasmic HDAC4 regulates the membrane repair mechanism in Duchenne muscular dystrophy. 62
35170869 2022
1164
Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy. 62
35064276 2022
1165
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. 62
35381069 2022
1166
A systematic review and qualitative synthesis of the experiences of parents of individuals living with Duchenne muscular dystrophy. 62
35435109 2022
1167
Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies. 62
34847621 2022
1168
Martial Arts Training for Boys With Duchenne Muscular Dystrophy. 62
35393369 2022
1169
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy. 62
35083887 2022
1170
RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells: implications for Duchenne muscular dystrophy. 62
35132805 2022
1171
Measuring carer quality of life in Duchenne muscular dystrophy: a systematic review of the reliability and validity of self-report instruments using COSMIN. 62
35366897 2022
1172
Elevated numbers of infiltrating eosinophils accelerate the progression of Duchenne muscular dystrophy pathology in mdx mice. 62
35333325 2022
1173
Cardiorespiratory management of Duchenne muscular dystrophy: emerging therapies, neuromuscular genetics, and new clinical challenges. 62
35364035 2022
1174
Noninvasive prenatal testing of Duchenne muscular dystrophy in a twin gestation. 62
35220584 2022
1175
Assessment of dysarthria with Frenchay dysarthria assessment (FDA-2) in patients with Duchenne muscular dystrophy. 62
32772581 2022
1176
Reduced Sarcolemmal Membrane Repair Exacerbates Striated Muscle Pathology in a Mouse Model of Duchenne Muscular Dystrophy. 62
35563723 2022
1177
Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base pair insertion in exon 45 of the Duchenne muscular dystrophy gene. 62
35135937 2022
1178
Tibialis Anterior and Posterior Tendon Transfer for Clubfoot Relapse in a Child with Duchenne Muscular Dystrophy: A Case Report. 62