MCID: MYT002
MIFTS: 52

Myotonic Dystrophy

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Myotonic Dystrophy

MalaCards integrated aliases for Myotonic Dystrophy:

Name: Myotonic Dystrophy 77 54 26 38 30 56 6 74
Dystrophia Myotonica 54 26
Myotonia Dystrophica 54 26
Myotonia Atrophica 54 26
Myotonic Dystrophy 1 74

Classifications:



External Ids:

KEGG 38 H00568

Summaries for Myotonic Dystrophy

NIH Rare Diseases : 54 Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person�??s 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles. People with myotonic dystrophy usually have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the disease may vary among affected people, even among members of the same family. Myotonic dystrophy is caused by mutations (changes) in the DMPK gene or the CNBP (ZNF9) gene depending on the specific type of myotonic dystrophy. The disease is inherited in an autosomal dominant manner. Myotonic dystrophy may be diagnosed when a healthcare provider observes signs and symptoms of the disease, and the diagnosis may be confirmed with tests of muscle function and genetic testing. Treatment is based on each person�??s specific signs and symptoms and may include physical therapy, pain management with medication, and consultation with specialists. 

MalaCards based summary : Myotonic Dystrophy, also known as dystrophia myotonica, is related to myotonic dystrophy 2 and myotonic dystrophy 1, and has symptoms including excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy is DMPK (DM1 Protein Kinase). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and skeletal muscle, and related phenotypes are Condensed cis-Golgi and Increased cell viability after pRB stimulation

Genetics Home Reference : 26 Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.

Wikipedia : 77 Myotonic dystrophy is a long term genetic disorder that affects muscle function. Symptoms include... more...

Related Diseases for Myotonic Dystrophy

Diseases in the Myotonic Dystrophy family:

Myotonic Dystrophy 1 Myotonic Dystrophy 2

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

(showing 289, show less)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 2 33.7 CLCN1 CNBP DMPK MBNL1
2 myotonic dystrophy 1 32.9 CELF1 CLCN1 CNBP DMPK MBNL1 MBNL3
3 myotonia 30.5 CLCN1 CNBP DMPK
4 myotonia congenita 30.0 CLCN1 CNBP
5 muscular disease 28.3 CELF1 CKM CLCN1 CNBP DMPK MBNL1
6 myotonic disease 28.1 CLCN1 CNBP DMPK MBNL1 MBNL3 SIX5
7 myotonia atrophica 12.3
8 dysphagia 11.5
9 pilomatrixoma 11.5
10 hypotonia 11.2
11 infantile hypotonia 11.2
12 swallowing disorders 11.2
13 floppy infant syndrome 11.2
14 myopathy 10.6
15 muscular dystrophy 10.6
16 cataract 10.5
17 neuropathy 10.5
18 diabetes mellitus, noninsulin-dependent 10.5
19 atrial fibrillation 10.5
20 muscular atrophy 10.4
21 muscular dystrophy, duchenne type 10.3
22 hyperparathyroidism 10.3
23 peripheral nervous system disease 10.3
24 myasthenia gravis 10.3
25 thymoma, familial 10.3
26 polyglucosan body myopathy 1 with or without immunodeficiency 10.3
27 sensory peripheral neuropathy 10.3
28 thymoma 10.3
29 myasthenia gravis congenital 10.3
30 charcot-marie-tooth disease 10.3
31 hydrocephalus 10.3
32 respiratory failure 10.3
33 melanoma 10.3
34 hypogonadism 10.3
35 hypogonadotropism 10.3
36 rere-related disorders 10.3
37 hypersomnia 10.3
38 cardiac conduction defect 10.3
39 aging 10.3
40 melanoma, uveal 10.2
41 dilated cardiomyopathy 10.2
42 muscle disorders 10.2
43 sleep apnea 10.2
44 neuromuscular disease 10.2
45 hyperthyroidism 10.2
46 polyhydramnios 10.2
47 depression 10.2
48 craniometaphyseal dysplasia, autosomal dominant 10.2
49 paget disease of bone 3 10.2
50 hypogonadotropic hypogonadism 10.2
51 acromegaly 10.2
52 bone inflammation disease 10.2
53 pituitary adenoma 10.2
54 poliomyelitis 10.2
55 myocarditis 10.2
56 fundus dystrophy 10.2
57 47, xxy 10.2
58 aminoaciduria 10.2
59 huntington disease 10.2
60 orthostatic intolerance 10.2
61 spinal muscular atrophy 10.2
62 brugada syndrome 10.2
63 primary hyperparathyroidism 10.2
64 epilepsy 10.2
65 corneal dystrophy 10.2
66 mitochondrial myopathy 10.2
67 amyotrophic lateral sclerosis 1 10.1
68 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
69 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.1
70 hydrocephalus, normal-pressure 10.1
71 muscular dystrophy, becker type 10.1
72 fragile x syndrome 10.1
73 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
74 congestive heart failure 10.1
75 restless legs syndrome 10.1
76 left ventricular noncompaction 10.1
77 cholelithiasis 10.1
78 glucose intolerance 10.1
79 fuchs' endothelial dystrophy 10.1
80 cholestasis 10.1
81 polyneuropathy 10.1
82 autosomal dominant cerebellar ataxia 10.1
83 hyperinsulinism 10.1
84 lateral sclerosis 10.1
85 syringomyelia 10.1
86 intestinal pseudo-obstruction 10.1
87 pulmonary embolism 10.1
88 hypoglycemia 10.1
89 hypertrophic cardiomyopathy 10.1
90 talipes equinovarus 10.1
91 atrial standstill 1 10.0
92 machado-joseph disease 10.0
93 multiple sclerosis 10.0
94 facioscapulohumeral muscular dystrophy 1 10.0
95 myositis 10.0
96 down syndrome 10.0
97 autism 10.0
98 celiac disease 1 10.0
99 hydrocephalus, congenital, 1 10.0
100 hypogonadism, male 10.0
101 insulin-like growth factor i 10.0
102 myopathy, centronuclear, x-linked 10.0
103 ventricular fibrillation, paroxysmal familial, 1 10.0
104 psoriasis 7 10.0
105 ichthyosis prematurity syndrome 10.0
106 psoriasis 11 10.0
107 psoriasis 13 10.0
108 lymphatic malformation 7 10.0
109 pulmonary hypertension 10.0
110 cerebral palsy 10.0
111 insulinoma 10.0
112 intermittent claudication 10.0
113 liver disease 10.0
114 male infertility 10.0
115 asperger syndrome 10.0
116 cardiac arrest 10.0
117 megacolon 10.0
118 emery-dreifuss muscular dystrophy 10.0
119 gastroparesis 10.0
120 graves' disease 10.0
121 sick sinus syndrome 10.0
122 selective igg deficiency disease 10.0
123 azoospermia 10.0
124 impotence 10.0
125 hyperostosis 10.0
126 postpoliomyelitis syndrome 10.0
127 infertility 10.0
128 fibromyalgia 10.0
129 adenoma 10.0
130 macular holes 10.0
131 psoriasis 10.0
132 limb-girdle muscular dystrophy 10.0
133 fetal edema 10.0
134 hydrops fetalis 10.0
135 hypoaldosteronism 10.0
136 immunoglobulin g deficiency 10.0
137 pain - chronic 10.0
138 syncope 10.0
139 acanthosis nigricans 9.9
140 alzheimer disease 9.9
141 spondyloarthropathy 1 9.9
142 autoimmune disease 9.9
143 cone-rod dystrophy 2 9.9
144 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 9.9
145 esophageal cancer 9.9
146 hashimoto thyroiditis 9.9
147 hyperostosis frontalis interna 9.9
148 hypertriglyceridemia, familial 9.9
149 multiple system atrophy 1 9.9
150 inclusion body myositis 9.9
151 klippel-trenaunay-weber syndrome 9.9
152 lipomatosis, multiple 9.9
153 mitral valve prolapse 1 9.9
154 moebius syndrome 9.9
155 ovarian cancer 9.9
156 palatopharyngeal incompetence 9.9
157 paramyotonia congenita of von eulenburg 9.9
158 porphyria, acute intermittent 9.9
159 rheumatoid arthritis 9.9
160 corneal endothelial dystrophy 9.9
161 cystic fibrosis 9.9
162 cystinuria 9.9
163 hydrops fetalis, nonimmune 9.9
164 lambert syndrome 9.9
165 spinal muscular atrophy, type ii 9.9
166 myeloma, multiple 9.9
167 myxedema 9.9
168 ocular motor apraxia 9.9
169 3-methylglutaconic aciduria, type iii 9.9
170 phenylketonuria 9.9
171 retinitis pigmentosa 9.9
172 graves disease 1 9.9
173 werner syndrome 9.9
174 cognitive function 1, social 9.9
175 wiskott-aldrich syndrome 9.9
176 gonadoblastoma 9.9
177 ataxia and polyneuropathy, adult-onset 9.9
178 leber congenital amaurosis 4 9.9
179 basal cell carcinoma 1 9.9
180 anxiety 9.9
181 autoimmune disease 1 9.9
182 endometrial cancer 9.9
183 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
184 peripartum cardiomyopathy 9.9
185 peripheral vascular disease 9.9
186 alopecia 9.9
187 arthritis 9.9
188 chronic kidney failure 9.9
189 craniosynostosis 9.9
190 diabetes mellitus 9.9
191 leukemia 9.9
192 liver cirrhosis 9.9
193 neuromyelitis optica 9.9
194 neutropenia 9.9
195 arrhythmogenic right ventricular cardiomyopathy 9.9
196 atrioventricular block 9.9
197 third-degree atrioventricular block 9.9
198 autism spectrum disorder 9.9
199 lymphoma 9.9
200 3-methylglutaconic aciduria 9.9
201 thrombosis 9.9
202 miyoshi muscular dystrophy 9.9
203 congenital fiber-type disproportion 9.9
204 nonalcoholic fatty liver disease 9.9
205 pleomorphic lipoma 9.9
206 monocular esotropia 9.9
207 blepharophimosis 9.9
208 gastric lymphoma 9.9
209 tooth disease 9.9
210 neonatal respiratory failure 9.9
211 erysipelas 9.9
212 heart disease 9.9
213 pyelonephritis 9.9
214 xanthogranulomatous pyelonephritis 9.9
215 quadriplegia 9.9
216 porphyria 9.9
217 rubeosis iridis 9.9
218 gonadal dysgenesis 9.9
219 hypothyroidism 9.9
220 centronuclear myopathy 9.9
221 neuroendocrine tumor 9.9
222 vascular disease 9.9
223 thyroid cancer 9.9
224 atrial heart septal defect 9.9
225 constipation 9.9
226 focal epilepsy 9.9
227 ankylosis 9.9
228 psychotic disorder 9.9
229 basal cell carcinoma 9.9
230 agammaglobulinemia 9.9
231 larynx cancer 9.9
232 phimosis 9.9
233 progressive muscular atrophy 9.9
234 oligodendroglioma 9.9
235 ischemia 9.9
236 skin carcinoma 9.9
237 retinitis 9.9
238 protein c deficiency 9.9
239 gastritis 9.9
240 intracranial embolism 9.9
241 pleomorphic adenoma 9.9
242 placenta accreta 9.9
243 movement disease 9.9
244 pancreatitis 9.9
245 demyelinating polyneuropathy 9.9
246 hemangioblastoma 9.9
247 pneumonia 9.9
248 kidney disease 9.9
249 paraplegia 9.9
250 double outlet right ventricle 9.9
251 spondylitis 9.9
252 mitochondrial metabolism disease 9.9
253 thyroiditis 9.9
254 intestinal volvulus 9.9
255 lung disease 9.9
256 mitochondrial encephalomyopathy 9.9
257 progressive myoclonus epilepsy 9.9
258 skin melanoma 9.9
259 amyloidosis 9.9
260 hypopituitarism 9.9
261 fatty liver disease 9.9
262 senile cataract 9.9
263 esotropia 9.9
264 muscular dystrophy, duchenne and becker type 9.9
265 47,xyy 9.9
266 dystrophinopathies 9.9
267 mitochondrial disorders 9.9
268 arachnoid cysts 9.9
269 carcinoid syndrome 9.9
270 cytoplasmic body myopathy 9.9
271 degos 'en cocarde' erythrokeratoderma 9.9
272 heparin-induced thrombocytopenia 9.9
273 lymphangiectasis 9.9
274 myoclonus epilepsy 9.9
275 neuromyelitis optica spectrum disorder 9.9
276 nonalcoholic steatohepatitis 9.9
277 pancreatic neuroendocrine tumor 9.9
278 proximal spinal muscular atrophy 9.9
279 weber syndrome 9.9
280 farsightedness 9.9
281 hypoxia 9.9
282 myoclonus 9.9
283 cerebral atrophy 9.9
284 dysautonomia 9.9
285 foot drop 9.9
286 angioosteohypertrophic syndrome 9.9
287 immune hydrops fetalis 9.9
288 butterfly-shaped pigment dystrophy 9.9
289 muscle tissue disease 9.6 CLCN1 CNBP DMPK MBNL1

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



Diseases related to Myotonic Dystrophy

Symptoms & Phenotypes for Myotonic Dystrophy

UMLS symptoms related to Myotonic Dystrophy:


excessive daytime somnolence, weakness

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

27 (showing 2, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Condensed cis-Golgi GR00365-A 9.13 CDC42BPA CKM DMPK
2 Increased cell viability after pRB stimulation GR00230-A-1 8.92 CDC42BPA CDC42BPB CKM DMPK

MGI Mouse Phenotypes related to Myotonic Dystrophy:

47 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CKM CLCN1 DMPK MBNL1 MBNL2 MBNL3

Drugs & Therapeutics for Myotonic Dystrophy

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

(showing 60, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3,Phase 3 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4
Fesoterodine Approved Phase 3 286930-03-8, 286930-02-7 6918558
5
Acyclovir Approved Phase 3 59277-89-3 2022
6
Apomorphine Approved, Investigational Phase 3 58-00-4, 41372-20-7 6005
7
Levodopa Approved Phase 3 59-92-7 6047
8
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
9
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
10 Immunologic Factors Phase 2, Phase 3
11 Adjuvants, Immunologic Phase 2, Phase 3
12 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
13 Central Nervous System Stimulants Phase 2, Phase 3
14 Dopamine Agents Phase 2, Phase 3,Phase 3
15 Neurotransmitter Agents Phase 2, Phase 3,Phase 3
16 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
17 Dopamine Uptake Inhibitors Phase 2, Phase 3
18 Antipsychotic Agents Phase 3
19 Central Nervous System Depressants Phase 3
20 Calcium, Dietary Phase 3
21 Diuretics, Potassium Sparing Phase 3,Phase 2,Phase 1
22 Sodium Channel Blockers Phase 3,Phase 2,Phase 1
23 Psychotropic Drugs Phase 3
24 Hormones Phase 3
25 Tranquilizing Agents Phase 3
26 calcium channel blockers Phase 3
27 Anticonvulsants Phase 3
28 Cholinergic Antagonists Phase 3
29 Muscarinic Antagonists Phase 3
30 Cholinergic Agents Phase 3
31 Antiviral Agents Phase 3
32 Anti-Infective Agents Phase 3
33 Peripheral Nervous System Agents Phase 3
34 Gastrointestinal Agents Phase 3
35 Autonomic Agents Phase 3
36 Emetics Phase 3
37 Dopamine agonists Phase 3
38
Zinc Approved, Investigational Phase 2 7440-66-6 32051
39
Mecasermin Approved, Investigational Phase 2,Phase 1 68562-41-4
40
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
41 Hypoglycemic Agents Phase 2
42 Insulin, Globin Zinc Phase 2,Phase 1
43 Complement Factor I Phase 2
44 Mitogens Phase 2,Phase 1
45 insulin Phase 2,Phase 1
46 Anti-Arrhythmia Agents Phase 2
47
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959
48 Orange Approved Early Phase 1
49
Inulin Approved, Investigational, Nutraceutical Early Phase 1 9005-80-5 24763
50
Fibrinolysin Investigational Not Applicable 9004-09-5
51 Antifibrinolytic Agents Not Applicable
52 Anticoagulants Not Applicable
53 Pigment epithelium-derived factor Not Applicable
54 Plasminogen Activator Inhibitor 1 Not Applicable
55 Liver Extracts Not Applicable
56 Plasminogen Not Applicable
57 Lupus Coagulation Inhibitor Not Applicable
58 Hemostatics Not Applicable
59 Plasminogen Inactivators Not Applicable
60 alpha-2-Antiplasmin Not Applicable

Interventional clinical trials:

(showing 58, show less)
# Name Status NCT ID Phase Drugs
1 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
2 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
3 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
4 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
5 Long-Term Open-Label Extension Trial for Subjects Completing the Phase 3 Trial of Fesoterodine (SP583) for the Treatment of Overactive Bladder Syndrome Completed NCT00220402 Phase 3 SPM 907
6 A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder Syndrome Completed NCT00220363 Phase 3 SPM 907
7 Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL) Completed NCT00747227 Phase 3
8 Phase 3 Clinical Study for the Treatment of Cold Sore Completed NCT00769314 Phase 3 Acyclovir Lauriad;Placebo
9 PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AK Completed NCT00308867 Phase 3
10 An Open-Label Phase 3 Study to Examine the Long-Term Safety, Tolerability and Efficacy of APL-130277 for the Acute Treatment of "OFF" Episodes in Patients With Parkinson's Disease Recruiting NCT02542696 Phase 3 APL-130277
11 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
12 Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy Not yet recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
13 Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
14 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
15 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
16 Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2 SomatoKine/IPLEX
17 A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2 IONIS-DMPKRx;Placebo
18 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Unknown status NCT02208713 Phase 1
19 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
20 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
21 Safety, Tolerability and Pharmacokinetics of ERX-963 in Adults With Myotonic Dystrophy Type 1 Recruiting NCT03959189 Phase 1 ERX-963;Placebo
22 Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy Unknown status NCT02269865
23 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Unknown status NCT02375087
24 Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy Unknown status NCT00745238 Not Applicable
25 An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica- Unknown status NCT02708784
26 Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders Unknown status NCT02339402
27 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Unknown status NCT02833168
28 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
29 Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life Completed NCT03589677
30 Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007 Not Applicable
31 Observational Prolonged Trial in Myotonic Dystrophy Type 1 Completed NCT02118779 Not Applicable
32 Multicenter Observational Study of Myotonic Dystrophy Type 1 Completed NCT02308657
33 Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy Completed NCT00004769
34 DM1 Heart Registry - DM1 Respiratory Registry Completed NCT01136330
35 Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy Completed NCT01530841 Not Applicable
36 Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
37 Venous Thromboembolism in DM1 Completed NCT03141749
38 Quality of Life in Neuromuscular Disease Completed NCT02895763
39 Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years Recruiting NCT03764150
40 Clinical Outcome Measures in Myotonic Dystrophy Type 2 Recruiting NCT03603171
41 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
42 Venous Thromboembolism in Myotonic Dystrophy Type 1 Recruiting NCT03424460 Not Applicable
43 Myotonic Dystrophy Family Registry Recruiting NCT02398786
44 Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy Recruiting NCT02880735 Not Applicable
45 Assessing Clinical Endpoints and Biomarkers in Myotonic Dystrophy Type-1 and Type 2 (ASCEND-DM) Recruiting NCT03867435
46 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
47 NIPD on CFTC for Triplet Repeat Diseases Recruiting NCT03087526 Not Applicable
48 Dietary Fibers and Satiety in Bariatric Patients Recruiting NCT03573258 Early Phase 1
49 Prospective Assessment of Allogeneic Hematopoietic Cell Transplantation in Patients With Myelofibrosis Recruiting NCT02934477
50 PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) Active, not recruiting NCT02831504
51 Sudden Cardiac Death Stratification in Myotonic Dystrophy Type 1 Patients Active, not recruiting NCT03784586
52 Muscle Relaxation in Myopathies With Positive Muscle Phenomena Enrolling by invitation NCT03211923
53 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
54 Burnout Preventions, Professionalism Heightening, and Enhancing Resiliency (BUPHER) Not yet recruiting NCT02963792 Not Applicable
55 Compare Train and 3D-4D Left Ventricular Systolic Function in Subjects Suffering From Dystrophy and Healthy Subjects Terminated NCT02930408 Not Applicable
56 Development of New Prenatal Diagnostic Tests From Maternal Blood Terminated NCT00314691 Not Applicable
57 A Clinical Trial to Evaluate the Safety and Effectiveness of the Raindrop Near Vision Inlay for Pseudophakic Subjects Terminated NCT03017612 Not Applicable
58 European Home Mechanical Ventilation Registry Terminated NCT02315339

Search NIH Clinical Center for Myotonic Dystrophy

Genetic Tests for Myotonic Dystrophy

Genetic tests related to Myotonic Dystrophy:

# Genetic test Affiliating Genes
1 Myotonic Dystrophy 30

Anatomical Context for Myotonic Dystrophy

MalaCards organs/tissues related to Myotonic Dystrophy:

42
Testes, Heart, Skeletal Muscle, Brain, Eye, Thyroid, Bone

Publications for Myotonic Dystrophy

Articles related to Myotonic Dystrophy:

(showing 3188, show less)
# Title Authors Year
1
Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest. ( 30484075 )
2019
2
Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1. ( 30994189 )
2019
3
Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I. ( 30898523 )
2019
4
Antenatal Indomethacin Treatment for Congenital Myotonic Dystrophy. ( 30906607 )
2019
5
Vertical relapse after orthodontic and orthognathic surgical treatment in a patient with myotonic dystrophy. ( 30919646 )
2019
6
Perceived fatigue in myotonic dystrophy type 1: a case-control study. ( 30922263 )
2019
7
Precise small-molecule cleavage of an r(CUG) repeat expansion in a myotonic dystrophy mouse model. ( 30926669 )
2019
8
Dysregulation of Calcium Metabolism in Type 1 Myotonic Dystrophy. ( 30963668 )
2019
9
Intrinsically cell-penetrating multivalent and multitargeting ligands for myotonic dystrophy type 1. ( 30975744 )
2019
10
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. ( 31003788 )
2019
11
White Matter Lesions Detected by Magnetic Resonance Imaging in Neonates and Children With Congenital Myotonic Dystrophy. ( 31005477 )
2019
12
Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. ( 31010208 )
2019
13
Myotonic Dystrophy and Anesthetic Challenges: A Case Report and Review. ( 31016049 )
2019
14
Massive abscess with prolonged respiratory failure due to newly diagnosed myotonic dystrophy: A case report. ( 31027145 )
2019
15
Letter of response to "Myotonic dystrophy type 1, individualised respiratory care rather than standart prognostication". ( 31029882 )
2019
16
Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. ( 31048891 )
2019
17
Body Composition in Patients with Congenital Myotonic Dystrophy. ( 31074869 )
2019
18
Myotonic Dystrophy type 1, individualised respiratory care rather than standart prognostication. ( 31077949 )
2019
19
Survival patterns and cancer determinants in families with myotonic dystrophy type 1. ( 30051542 )
2019
20
Twenty-four-hour ambulatory ECG monitoring relevancy in myotonic dystrophy type 1 follow-up: Prognostic value and heart rate variability evolution. ( 30101452 )
2019
21
Normalization of frequency-domain parameters of heart rate variability in patients with myotonic dystrophy. ( 30242945 )
2019
22
Neurophysiological Evidence of Motor Network Reorganization in Myotonic Dystrophy Type 1: A Pilot Magnetoencephalographic Study. ( 30247381 )
2019
23
Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1. ( 30304901 )
2019
24
Letter to the Editor: Circulating Adult Stem and Progenitor Cells After Roux-en-Y Gastric Bypass Surgery in Myotonic Dystrophy. ( 30417272 )
2019
25
Correction to: Affinity capillary electrophoresis for identification of active drug candidates in myotonic dystrophy type 1. ( 30443771 )
2019
26
Heart involvement in patients with myotonic dystrophy type 2. ( 30536153 )
2019
27
Gender difference in clinical conditions among hospitalized adults with myotonic dystrophy. ( 30575975 )
2019
28
Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1? ( 30615069 )
2019
29
Reply: Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1? ( 30615109 )
2019
30
Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice. ( 30628727 )
2019
31
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. ( 30659139 )
2019
32
Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy. ( 30672388 )
2019
33
The myotonic dystrophy experience: a North American cross-sectional study. ( 30677147 )
2019
34
Health-related quality of life and its correlates in Japanese patients with myotonic dystrophy type 1. ( 30679907 )
2019
35
The Myotonic Dystrophy Health Index: Japanese Adaption and Validity Testing. ( 30681157 )
2019
36
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. ( 30685181 )
2019
37
Comprehensive investigations are required to manage cardiac disease in myotonic dystrophy 2. ( 30693450 )
2019
38
Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study. ( 30706460 )
2019
39
Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review. ( 30714084 )
2019
40
Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes. ( 30730308 )
2019
41
Multiple pilomatrixomas as a presentation of myotonic dystrophy. ( 30734963 )
2019
42
Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2. ( 30739220 )
2019
43
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance. ( 30760283 )
2019
44
A neurodevelopmental approach to myotonic dystrophy type 1. ( 30761521 )
2019
45
Non-invasive evaluation of the relationship between electrical and structural cardiac abnormalities in patients with myotonic dystrophy type 1. ( 30767060 )
2019
46
Disease burden of myotonic dystrophy type 1. ( 30788616 )
2019
47
Body composition analysis in patients with myotonic dystrophy types 1 and 2. ( 30790082 )
2019
48
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study. ( 30798109 )
2019
49
Progressive decline in daily and social activities: A 9-year longitudinal study of participation in myotonic dystrophy type 1. ( 30831092 )
2019
50
What is known about the effects of exercise or training to reduce skeletal muscle impairments of patients with myotonic dystrophy type 1? A scoping review. ( 30836978 )
2019
51
Uncovering health and social care needs among myotonic dystrophy patients. ( 30848487 )
2019
52
Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1. ( 30852496 )
2019
53
Affective symptoms and apathy in myotonic dystrophy type 1 a systematic review and meta-analysis. ( 30870776 )
2019
54
Sugammadex is changing the paradigm in neuromuscular blockade in patients with myotonic dystrophy. ( 30888938 )
2019
55
Abnormal nuclear aggregation and myotube degeneration in myotonic dystrophy type 1. ( 30891637 )
2019
56
A model to predict ventilator requirement in Myotonic Dystrophy Type 1. ( 30895625 )
2019
57
Myotonic dystrophy type 1: clinical manifestations in children and adolescents. ( 29871899 )
2019
58
Coexistence of Ankylosing Spondylitis and Myotonic Dystrophy: Camptocormia or Thoracic Ankylosis. ( 29465620 )
2018
59
Left atrial low-voltage zone ablation of persistent atrial fibrillation in a patient with myotonic dystrophy: A case report. ( 29951149 )
2018
60
Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity? ( 29361396 )
2018
61
Christmas tree cataract and myotonic dystrophy type 1. ( 29988074 )
2018
62
Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients. ( 29219952 )
2018
63
Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1. ( 30025114 )
2018
64
Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-up. ( 30944906 )
2018
65
Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2. ( 29533949 )
2018
66
Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy. ( 29901230 )
2018
67
Graves' disease and celiac disease in a patient with myotonic dystrophy type 2. ( 30197184 )
2018
68
Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency. ( 29367875 )
2018
69
Sonographic similarities of inclusion body myositis and myotonic dystrophy. ( 30028511 )
2018
70
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
71
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy. ( 30193301 )
2018
72
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy. ( 30193333 )
2018
73
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy-Reply. ( 30193376 )
2018
74
Electrophysiological and histopathological findings of muscular disease suspected as myotonic dystrophy in a Shiba dog. ( 29311426 )
2018
75
Quantitative myotonia assessment using a commercially-available dynamometer in myotonic dystrophy types 1 and 2. ( 30575988 )
2018
76
Metabolic impairments in patients with myotonic dystrophy type 2. ( 30944903 )
2018
77
Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion. ( 30984523 )
2018
78
Myotonic dystrophy type 1: reasons to be OPTIMISTIC. ( 29934200 )
2018
79
miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models. ( 29946070 )
2018
80
Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells. ( 29947794 )
2018
81
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2. ( 29955039 )
2018
82
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. ( 29967337 )
2018
83
White matter hyperintensities in myotonic dystrophy type 2: Not always another expression of the disease. ( 29982108 )
2018
84
Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy. ( 29987963 )
2018
85
Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy. ( 30010141 )
2018
86
Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis. ( 30028904 )
2018
87
SCN4A as modifier gene in patients with myotonic dystrophy type 2. ( 30038349 )
2018
88
A Review of Psychopathology Features, Personality, and Coping in Myotonic Dystrophy Type 1. ( 30040740 )
2018
89
Towards clinical outcome measures in myotonic dystrophy type 2: a systematic review. ( 30048337 )
2018
90
Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy. ( 30050493 )
2018
91
Modeling of Myotonic Dystrophy Cardiac Phenotypes in Drosophila. ( 30061855 )
2018
92
Fast Progressing His-Purkinje Conduction Disturbances in a Myotonic Dystrophy Pacient. ( 30069244 )
2018
93
Usefulness of the external loop recorder in a patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations: evaluation of the follow-up from diagnosis to 6 month-post-cardiac interventional treatment. ( 30079399 )
2018
94
RNA-mediated therapies in myotonic dystrophy. ( 30086404 )
2018
95
Diastolic heart dysfunction is correlated with CTG repeat length in myotonic dystrophy type 1. ( 30094526 )
2018
96
Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2. ( 30100878 )
2018
97
Furamidine Rescues Myotonic Dystrophy Type I Associated Mis-Splicing through Multiple Mechanisms. ( 30118588 )
2018
98
Myotonic Dystrophy-A Progeroid Disease? ( 30140252 )
2018
99
Modified dynamic gait index and limits of stability in myotonic dystrophy type 1. ( 30160307 )
2018
100
Improved mobility with metformin in patients with myotonic dystrophy type 1: a randomized controlled trial. ( 30169600 )
2018
101
Exon Skipping by Ultrasound-Enhanced Delivery of Morpholino with Bubble Liposomes for Myotonic Dystrophy Model Mice. ( 30171561 )
2018
102
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. ( 30185236 )
2018
103
Current Progress in CNS Imaging of Myotonic Dystrophy. ( 30186217 )
2018
104
Generation of induced pluripotent stem cell line(ZZUi006-A)from a patient with myotonic dystrophy type 1. ( 30216892 )
2018
105
Myotonic Dystrophy Type 2 - Data from the Serbian Registry. ( 30248060 )
2018
106
Report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop Paris, France, June 8, 2015. ( 30248061 )
2018
107
Social cognition in myotonic dystrophy type 1: Specific or secondary impairment? ( 30248121 )
2018
108
Teaching NeuroImages: Myotonic dystrophy type 1. ( 30249682 )
2018
109
Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1. ( 30270126 )
2018
110
Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9. ( 30274788 )
2018
111
Stepping Activity in Children With Congenital Myotonic Dystrophy. ( 30277969 )
2018
112
Commentary on "Stepping Activity in Children With Congenital Myotonic Dystrophy". ( 30277970 )
2018
113
Mir-206 partially rescues myogenesis deficiency by inhibiting CUGBP1 accumulation in the cell models of myotonic dystrophy. ( 30281408 )
2018
114
Benefits of combining prevalent and incident cohorts: An application to myotonic dystrophy. ( 30293502 )
2018
115
Developing a one-step triplet-repeat primed PCR assay for diagnosing myotonic dystrophy. ( 30297192 )
2018
116
Neuropsychological and Psychological Functioning Aspects in Myotonic Dystrophy Type 1 Patients in Italy. ( 30298045 )
2018
117
A Dimeric 2,9-Diamino-1,10-phenanthroline Derivative Improves Alternative Splicing in Myotonic Dystrophy Type 1 Cell and Mouse Models. ( 30302858 )
2018
118
A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism. ( 30304928 )
2018
119
Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight. ( 30333784 )
2018
120
Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study. ( 30342904 )
2018
121
Diffusion tensor imaging and voxel-based morphometry reveal corticospinal tract involvement in the motor dysfunction of adult-onset myotonic dystrophy type 1. ( 30349069 )
2018
122
High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy. ( 30354391 )
2018
123
Comparative Sleep Disturbances in Myotonic Dystrophy Types 1 and 2. ( 30382420 )
2018
124
Nuclear Envelope Transmembrane Proteins in Myotonic Dystrophy Type 1. ( 30425655 )
2018
125
Meet and eat, an interdisciplinary group intervention for patients with myotonic dystrophy about healthy nutrition, meal preparation, and consumption: a feasibility study. ( 30457347 )
2018
126
Hemangiomas of the tongue and the oral cavity in a myotonic dystrophy type 1 patient: A case report. ( 30508964 )
2018
127
Comparison of brain magnetic resonance imaging between myotonic dystrophy type 1 and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. ( 30521610 )
2018
128
Structural white matter networks in myotonic dystrophy type 1. ( 30522973 )
2018
129
Non-invasive monitoring of alternative splicing outcomes to identify candidate therapies for myotonic dystrophy type 1. ( 30531949 )
2018
130
Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells. ( 30546383 )
2018
131
Cannabis use in myotonic dystrophy patients in Germany and USA: a pilot survey. ( 30552503 )
2018
132
Cancer Risk in Myotonic Dystrophy Type I: Evidence of a Role for Disease Severity. ( 30556050 )
2018
133
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart. ( 30561649 )
2018
134
Dissecting Pathogenetic Mechanisms and Therapeutic Strategies in Drosophila Models of Myotonic Dystrophy Type 1. ( 30567354 )
2018
135
Consensus-based care recommendations for adults with myotonic dystrophy type 1. ( 30588381 )
2018
136
Pluripotent Stem Cell-Based Drug Screening Reveals Cardiac Glycosides as Modulators of Myotonic Dystrophy Type 1. ( 30639849 )
2018
137
Respiratory dysfunction in myotonic dystrophy type 1: A systematic review. ( 30765255 )
2018
138
Myotonic dystrophy type 1 and pulmonary embolism: successful thrombus resolution with dabigatran etexilate therapy. ( 30838353 )
2018
139
French translation and cross-cultural adaptation of The Myotonic Dystrophy Health Index. ( 29053894 )
2018
140
Lower limb muscle magnetic resonance imaging in myotonic dystrophy type 1 correlates with the six-minute walk test and CTG repeats. ( 29066035 )
2018
141
Abnormally invasive placentation in a woman with congenital myotonic dystrophy. ( 29072789 )
2018
142
Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink. ( 29114849 )
2018
143
MRI hydrographic 3D sequences: myotonic dystrophy type 1 meets CADASIL. ( 29116570 )
2018
144
Corneal Endothelial and Myotonic Dystrophy. ( 29120897 )
2018
145
Imaging of the thymus in myotonic dystrophy type 1. ( 29177794 )
2018
146
Cognitive impairment and quality of life in patients with myotonic dystrophy type 1. ( 29193182 )
2018
147
Correction of GSK3β at young age prevents muscle pathology in mice with myotonic dystrophy type 1. ( 29203592 )
2018
148
Responsiveness of performance-based outcome measures for mobility, balance, muscle strength and manual dexterity in adults with myotonic dystrophy type 1. ( 29260836 )
2018
149
Lymphoblastoids cell lines - Derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG)200 expansion in the DMPK gene: CHUQi001-A. ( 29274549 )
2018
150
Reliability of the Apathy Evaluation Scale in Myotonic Dystrophy Type 1. ( 29278897 )
2018
151
Mitochondrial dysfunction in myotonic dystrophy type 1. ( 29289451 )
2018
152
Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients. ( 29291944 )
2018
153
An unusual case of placenta percreta in a patient with myotonic dystrophy. ( 29306564 )
2018
154
The Frequency and Risk Factors for Ischemic Stroke in Myotonic Dystrophy Type 1 Patients. ( 29306591 )
2018
155
Speech characteristics in the congenital and childhood-onset forms of myotonic dystrophy type 1. ( 29327796 )
2018
156
Myotonic dystrophy patient preferences in patient-reported outcome measures. ( 29328504 )
2018
157
Altered levels of the splicing factor muscleblind modifies cerebral cortical function in mouse models of myotonic dystrophy. ( 29331264 )
2018
158
Design of a "Mini" Nucleic Acid Probe for Cooperative Binding of an RNA-Repeated Transcript Associated with Myotonic Dystrophy Type 1. ( 29334465 )
2018
159
Validation of The Individualized Neuromuscular Quality of Life in Japanese patients with myotonic dystrophy. ( 29342319 )
2018
160
Hearing impairment in patients with myotonic dystrophy type 2. ( 29343467 )
2018
161
Altered power spectral density in the resting-state sensorimotor network in patients with myotonic dystrophy type 1. ( 29343751 )
2018
162
Non-invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective. ( 29352628 )
2018
163
Non invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective. ( 29358018 )
2018
164
Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey. ( 29361394 )
2018
165
Five-year serial follow-up of muscle MRI in adult onset myotonic dystrophy type 1: A case report. ( 29369170 )
2018
166
Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1. ( 29381654 )
2018
167
Clinical neuropsychology in the management of myotonic dystrophy. ( 29381813 )
2018
168
Recurrence of Gastric Masses in a Neonate with Congenital Myotonic Dystrophy. ( 29383602 )
2018
169
Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1. ( 29394960 )
2018
170
Genotype and other determinants of respiratory function in myotonic dystrophy type 1. ( 29398295 )
2018
171
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1. ( 29404559 )
2018
172
Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy. ( 29420722 )
2018
173
Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness. ( 29445282 )
2018
174
Use of Sugammadex in a Patient With Myotonic Dystrophy. ( 29479387 )
2018
175
Bachmann bundle pacing reduces atrial electromechanical delay in type 1 myotonic dystrophy patients. ( 29488106 )
2018
176
Effect of dual-chamber minimal ventricular pacing on paroxysmal atrial fibrillation incidence in myotonic dystrophy type 1 patients: A prospective, randomized, single-blind, crossover study. ( 29524476 )
2018
177
222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016. ( 29550152 )
2018
178
Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes. ( 29551391 )
2018
179
Interatrial block to predict atrial fibrillation in myotonic dystrophy type 1. ( 29567351 )
2018
180
Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study. ( 29572271 )
2018
181
Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy. ( 29592894 )
2018
182
Uveal Melanoma Associated With Myotonic Dystrophy: A Report of 6 Cases. ( 29596556 )
2018
183
Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2. ( 29601898 )
2018
184
Rhythm management in myotonic dystrophy: Progress has been made, but unsettled issues remain. ( 29625279 )
2018
185
Disruption of sleep-wake continuum in myotonic dystrophy type 1: Beyond conventional sleep staging. ( 29631952 )
2018
186
Importance of three-dimensional speckle tracking in the assessment of left atrial and ventricular dysfunction in patients with myotonic dystrophy type 1. ( 29650434 )
2018
187
Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy. ( 29651162 )
2018
188
Editors' note: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. ( 29686122 )
2018
189
Reader response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. ( 29686123 )
2018
190
Author response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. ( 29686124 )
2018
191
Myotonic Dystrophy and Developmental Regulation of RNA Processing. ( 29687899 )
2018
192
Bruno-3 regulates sarcomere component expression and contributes to muscle phenotypes of myotonic dystrophy type 1. ( 29716962 )
2018
193
Reduction of Cellular Nucleic Acid Binding Protein Encoded by a Myotonic Dystrophy Type 2 Gene Causes Muscle Atrophy. ( 29735719 )
2018
194
Affinity capillary electrophoresis for identification of active drug candidates in myotonic dystrophy type 1. ( 29736701 )
2018
195
Four-repeat tau dominant pathology in a congenital myotonic dystrophy type 1 patient with mental retardation. ( 29740938 )
2018
196
Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle α-actin deficiency and eosinophilic myenteric plexitis. ( 29749332 )
2018
197
Mechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1. ( 29771332 )
2018
198
Correction: Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy (doi: 10.1242/dmm.032557). ( 29784710 )
2018
199
A 9-year follow-up study of quantitative muscle strength changes in myotonic dystrophy type 1. ( 29785524 )
2018
200
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. ( 29789616 )
2018
201
Participation and the Role of Neuropsychological Functioning in Myotonic Dystrophy Type 1. ( 29865086 )
2018
202
Small Molecules Which Improve Pathogenesis of Myotonic Dystrophy Type 1. ( 29867749 )
2018
203
Erratum: Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness [Corrigendum]. ( 29873326 )
2018
204
Cells of Matter-In Vitro Models for Myotonic Dystrophy. ( 29875732 )
2018
205
Ankle Strength Impairments in Myotonic Dystrophy Type 1: A Five-Year Follow-up. ( 29889079 )
2018
206
Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy. ( 29892259 )
2018
207
Recapitulating muscle disease phenotypes with myotonic dystrophy 1 induced pluripotent stem cells: a tool for disease modeling and drug discovery. ( 29898953 )
2018
208
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. ( 29934199 )
2018
209
Benign and malignant tumors in the UK myotonic dystrophy patient registry. ( 28662292 )
2018
210
"Dystrophia Myotonica" and the Legacy of Hans Gustav Wilhelm Steinert. ( 30122835 )
2018
211
Myotonic dystrophy and Brugada syndrome: A common pathophysiologic pathway? ( 28389016 )
2017
212
Genetic testing of individuals with pre-senile cataract identifies patients with myotonic dystrophy type 2. ( 29024355 )
2017
213
Author's Reply: Myotonic dystrophy: The occurrence of early-onset cataract. ( 28681796 )
2017
214
Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy. ( 28886202 )
2017
215
Corneal Endothelial Dystrophy Associated With Myotonic Dystrophy: A Report of 2 Cases. ( 28820792 )
2017
216
Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type 1 and Emery Dreifuss Muscular Dystrophy. ( 28237579 )
2017
217
Comments on Letter to the Editor entitled: "Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type1 and Emery Dreifuss Muscular Dystrophy". ( 28291654 )
2017
218
Excessive daytime sleepiness in a patient with coexisting myotonic dystrophy type 1, myasthenia gravis and Graves' disease. ( 28209438 )
2017
219
Hyperostosis Frontalis Interna in Myotonic Dystrophy. ( 28824073 )
2017
220
Successful treatment of a patient with statin-induced myopathy and myotonic dystrophy type II with proprotein convertase subtilisin/kexin type 9 inhibitor, alirocumab (Praluent). ( 29056268 )
2017
221
Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia. ( 28491317 )
2017
222
Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1. ( 29296622 )
2017
223
Congenital myotonic dystrophy-an RNA-mediated disease across a developmental continuum. ( 28717044 )
2017
224
Investigation of the molecular mechanisms underlying myotonic dystrophy types 1 and 2 cataracts using microRNA‑target gene networks. ( 28731161 )
2017
225
Brain imaging in myotonic dystrophy type 1: A systematic review. ( 28768849 )
2017
226
Myotonic dystrophy: candidate small molecule therapeutics. ( 28780071 )
2017
227
Myotonic Dystrophy Type 1 Clinical, Electrophysiological and Molecular Characterization: Experience at Tertiary Care Centre. ( 28782311 )
2017
228
Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy. ( 28791262 )
2017
229
Evolving Motivations: Patients' and Caregivers' Perceptions About Seeking Myotonic Dystrophy (DM1) and Huntington's Disease Care. ( 28799481 )
2017
230
BNANC Gapmers Revert Splicing and Reduce RNA Foci with Low Toxicity in Myotonic Dystrophy Cells. ( 28853853 )
2017
231
High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. ( 28855409 )
2017
232
The Myotonic Dystrophy Health Index: Italian validation of a disease-specific outcome measure. ( 28890289 )
2017
233
The cognitive profile of myotonic dystrophy type 1: A systematic review and meta-analysis. ( 28892766 )
2017
234
RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2. ( 28910618 )
2017
235
Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle. ( 28915272 )
2017
236
Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions. ( 28942489 )
2017
237
Which is the true epidemiology of left ventricular dysfunction in patients with myotonic dystrophy type 1? ( 28958668 )
2017
238
Steakhouse Syndrome in Myotonic Dystrophy. ( 29021441 )
2017
239
Reduced renal function in patients with Myotonic Dystrophy type 1 and the association to CTG expansion and other potential risk factors for chronic kidney disease. ( 29029879 )
2017
240
Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution. ( 29054426 )
2017
241
Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2. ( 29086017 )
2017
242
Aberrant Myokine Signaling in Congenital Myotonic Dystrophy. ( 29091763 )
2017
243
Brain gray matter structural network in myotonic dystrophy type 1. ( 29095898 )
2017
244
Cardiac involvement in myotonic dystrophy: The role of troponins and N-terminal pro B-type natriuretic peptide. ( 29121498 )
2017
245
Cardiac autonomic control during sleep in patients with myotonic dystrophy type 1: the effects of comorbid obstructive sleep apnea. ( 29157585 )
2017
246
CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients. ( 29246312 )
2017
247
Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients. ( 29349085 )
2017
248
Anesthetic Management for Multiple Family Members with Myotonic Dystrophy for Interventional Cardiac Procedures-A Case Series. ( 29359132 )
2017
249
Use of Sugammadex in a Patient with Myotonic Dystrophy Undergoing Laparoscopic Cholecystectomy. ( 29693947 )
2017
250
Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results. ( 29770362 )
2017
251
Complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a patient with Myotonic Dystrophy type 1 and atrial fibrillation. ( 29770366 )
2017
252
MRI findings and cognitive functions in a small cohort of myotonic dystrophy type 1: Retrospective analyses. ( 27837184 )
2017
253
Physical function and mobility in children with congenital myotonic dystrophy. ( 27859360 )
2017
254
Review of patient-reported outcome measures for use in myotonic dystrophy type 1 patients. ( 27862031 )
2017
255
Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2. ( 27896491 )
2017
256
Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study. ( 27919548 )
2017
257
Preferential changes of skeletal muscle echogenicity in myotonic dystrophy type 1. ( 27933692 )
2017
258
Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1. ( 27941019 )
2017
259
Ritodrine-induced rhabdomyolysis, infantile myotonic dystrophy, and maternal myotonic dystrophy unveiled. ( 27987333 )
2017
260
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis. ( 27991661 )
2017
261
Is one trial enough for repeated testing? Same-day assessments of walking, mobility and fine hand use in people with myotonic dystrophy type 1. ( 28062219 )
2017
262
Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis. ( 28065683 )
2017
263
Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I. ( 28067669 )
2017
264
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects. ( 28078562 )
2017
265
Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1. ( 28078570 )
2017
266
Prevalence of myotonic dystrophy type 1 in adults in western Sweden. ( 28082207 )
2017
267
Body composition and clinical outcome measures in patients with myotonic dystrophy type 1. ( 28082208 )
2017
268
Antisense transcription of the myotonic dystrophy locus yields low-abundant RNAs with and without (CAG)n repeat. ( 28102759 )
2017
269
Neuromyelitis Optica in a Patient from Family with both Myotonic Dystrophy Type 1 and 2. ( 28106565 )
2017
270
CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing. ( 28129118 )
2017
271
Serum response factor regulates smooth muscle contractility via myotonic dystrophy protein kinases and L-type calcium channels. ( 28152551 )
2017
272
Brain Involvement in Myotonic Dystrophy Type 1: A Morphometric and Diffusion Tensor Imaging Study with Neuropsychological Correlation. ( 28164212 )
2017
273
Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA). ( 28168524 )
2017
274
Forensic Considerations in Cases of Myotonic Dystrophy at Autopsy. ( 28168695 )
2017
275
Longitudinal course of lung function in myotonic dystrophy type 1. ( 28181267 )
2017
276
Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds. ( 28188264 )
2017
277
Apical left ventricular myocardial dysfunction is an early feature of cardiac involvement in myotonic dystrophy type 1. ( 28191665 )
2017
278
Electromechanical delays during a fatiguing exercise and recovery in patients with myotonic dystrophy type 1. ( 28194519 )
2017
279
Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability. ( 28211918 )
2017
280
Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes. ( 28213156 )
2017
281
Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1. ( 28225046 )
2017
282
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. ( 28257691 )
2017
283
Quantitative Assessment of Trunk Muscles Involvement in Patients with Myotonic Dystrophy Type 1 Using a Whole Body Muscle Magnetic Resonance Imaging. ( 28288466 )
2017
284
Anesthetic Considerations in a Patient with Myotonic Dystrophy for Hip Labral Repair. ( 28316843 )
2017
285
Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy. ( 28317292 )
2017
286
Cardiac autonomic function in type 1 and type 2 myotonic dystrophy. ( 28321519 )
2017
287
Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study. ( 28323905 )
2017
288
Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia. ( 28363916 )
2017
289
Quality of life and excessive daytime sleepiness in children and adolescents with myotonic dystrophy type 1. ( 28366348 )
2017
290
Reduced cytoplasmic MBNL1 is an early event in a brain-specific mouse model of myotonic dystrophy. ( 28369378 )
2017
291
Myotonic dystrophy: approach to therapy. ( 28376341 )
2017
292
Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study. ( 28384345 )
2017
293
A giant uterine tumor in a woman with myotonic dystrophy. ( 28396787 )
2017
294
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research. ( 28397002 )
2017
295
Optical Mapping Approaches on Muscleblind-Like Compound Knockout Mice for Understanding Mechanistic Insights Into Ventricular Arrhythmias in Myotonic Dystrophy. ( 28416514 )
2017
296
Single-Tube Dodecaplex PCR Panel of Polymorphic Microsatellite Markers Closely Linked to the DMPK CTG Repeat for Preimplantation Genetic Diagnosis of Myotonic Dystrophy Type 1. ( 28428361 )
2017
297
Delusional and psychotic disorders in juvenile myotonic dystrophy type-1. ( 28449271 )
2017
298
Arrhythmic risk evaluation in myotonic dystrophy: the importance of selection criteria and methodological approach. ( 28451779 )
2017
299
A Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Mimics on Brain Magnetic Resonance Imaging in Myotonic Dystrophy Type I. ( 28459935 )
2017
300
Effects of 1-month withdrawal of ventilatory support in hypercapnic myotonic dystrophy type 1. ( 28485522 )
2017
301
Deregulation of microRNAs in blood and skeletal muscles of myotonic dystrophy type 1 patients. ( 28488611 )
2017
302
The Controversial Epidemiology of Left Ventricular Dysfunction in Patients With Myotonic Dystrophy Type 1. ( 28492909 )
2017
303
The Controversial Epidemiology of Left Ventricular Dysfunction in Patients With Myotonic Dystrophy Type 1-Reply. ( 28492931 )
2017
304
A 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1: A similar decline for phenotypes but not for gender. ( 28527585 )
2017
305
A flow cytometry-based screen identifies MBNL1 modulators that rescue splicing defects in myotonic dystrophy type I. ( 28535287 )
2017
306
Survey of Canadian Myotonic Dystrophy Patients' Access to Computer Technology. ( 28535832 )
2017
307
Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I. ( 28540995 )
2017
308
Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity. ( 28542314 )
2017
309
Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach. ( 28550479 )
2017
310
Left ventricular longitudinal strain impairment predicts cardiovascular events in asymptomatic type 1 myotonic dystrophy. ( 28550978 )
2017
311
Brain positron emission tomography in patients with myotonic dystrophy type 1 and type 2. ( 28566162 )
2017
312
In silico discovery of substituted pyrido[2,3-d]pyrimidines and pentamidine-like compounds with biological activity in myotonic dystrophy models. ( 28582438 )
2017
313
Expanded CCUG repeat RNA expression in Drosophila heart and muscle trigger Myotonic Dystrophy type 1-like phenotypes and activate autophagocytosis genes. ( 28588248 )
2017
314
Ophthalmological findings in myotonic dystrophy. ( 28591397 )
2017
315
Noninvasive assessment of respiratory muscle strength and activity in Myotonic dystrophy. ( 28594857 )
2017
316
Risk for Complications after Pacemaker or Cardioverter Defibrillator Implantations in Patients with Myotonic Dystrophy Type 1. ( 28598855 )
2017
317
Temporomandibular dysfunction in adult patients with myotonic dystrophy (DM1). ( 28600825 )
2017
318
Routine echocardiography in patients with myotonic dystrophy type 1. ( 28601625 )
2017
319
Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry. ( 28611030 )
2017
320
Repeats and Survival in Myotonic Dystrophy Type 1. ( 28611033 )
2017
321
Structure and Dynamics of RNA Repeat Expansions That Cause Huntington's Disease and Myotonic Dystrophy Type 1. ( 28617590 )
2017
322
(CCUG)n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis. ( 28623239 )
2017
323
Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice. ( 28624222 )
2017
324
Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress. ( 28637233 )
2017
325
Surgical Orthodontic Treatment of a Patient Affected by Type 1 Myotonic Dystrophy (Steinert Syndrome). ( 28642828 )
2017
326
Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy. ( 28658620 )
2017
327
Prospective measurement of quality of life in myotonic dystrophy type 1. ( 28660733 )
2017
328
Long-term follow-up of motor function and muscle strength in the congenital and childhood forms of myotonic dystrophy type 1. ( 28673557 )
2017
329
Myotonic dystrophy-Besides the limbs. ( 28681795 )
2017
330
Personality traits in patients with myotonic dystrophy type 2. ( 28690389 )
2017
331
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy. ( 28698297 )
2017
332
The proposal of a clinical protocol to assess central and peripheral fatigue in myotonic dystrophy type 1. ( 28715597 )
2017
333
Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation-Sponsored Workshop. ( 30227044 )
2017
334
Peripheral neuropathy in patients with myotonic dystrophy type 2. ( 27401721 )
2017
335
Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases. ( 27489983 )
2017
336
Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review. ( 27671786 )
2017
337
Lower limb muscle strength impairment in late-onset and adult myotonic dystrophy type 1 phenotypes. ( 27784130 )
2017
338
Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review. ( 28810563 )
2017
339
The pyrazolyl-urea GeGe3 inhibits tumor angiogenesis and reveals dystrophia myotonica protein kinase (DMPK)1 as a novel angiogenesis target. ( 29296234 )
2017
340
Hard to Swallow: A Phenomenological Exploration of the Experience of Caring for Individuals With Myotonic Dystrophy and Dysphagia. ( 26720320 )
2016
341
Myotonic Dystrophy Type 1: A Neurological Cause of Dysphagia. ( 26857523 )
2016
342
Two Cases of Endometrial Cancer in Twin Sisters with Myotonic Dystrophy. ( 27595026 )
2016
343
No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome. ( 27132119 )
2016
344
Drug resistant focal epilepsy in a patient with myotonic dystrophy type 2: casual or causal association? ( 27225277 )
2016
345
Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy. ( 27734165 )
2016
346
Myotonic dystrophy type 2 presenting as inflammatory myopathy. ( 27625258 )
2016
347
Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy. ( 27133661 )
2016
348
Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on triplet-primed PCR and melt curve analysis. ( 27665623 )
2016
349
High-sensitive cardiac troponin T (hs-cTnT) assay as serum biomarker to predict cardiac risk in myotonic dystrophy: A case-control study. ( 27780717 )
2016
350
Infertile Males with Muscle Weakness: Keep Your Eyes Open for Myotonic Dystrophy. ( 27803544 )
2016
351
Derepressing muscleblind expression by miRNA sponges ameliorates myotonic dystrophy-like phenotypes in Drosophila. ( 27805016 )
2016
352
Ophthalmic findings in myotonic dystrophy type 2: a case series. ( 27807619 )
2016
353
Which Is the True Epidemiology of Atrial Fibrillation in Myotonic Dystrophy Type 1 Patients? ( 27807876 )
2016
354
Myotonic Dystrophy Type 1 Management and Therapeutics. ( 27826760 )
2016
355
Development of pharmacophore models for small molecules targeting RNA: Application to the RNA repeat expansion in myotonic dystrophy type 1. ( 27839685 )
2016
356
Developmental Milestones and Quality of Life Assessment in a Congenital Myotonic Dystrophy Cohort. ( 27854230 )
2016
357
Can long-term thiamine treatment improve the clinical outcomes of myotonic dystrophy type 1? ( 27857755 )
2016
358
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1. ( 27905532 )
2016
359
Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study. ( 27911338 )
2016
360
Cutaneous Neoplasms in Myotonic Dystrophy Type 1. ( 28249295 )
2016
361
Increased heterogeneity of ventricular repolarization in myotonic dystrophy type 1 population. ( 28344440 )
2016
362
Voltage-directed cavo-tricuspid isthmus ablation using a novel ablation catheter mapping technology in a myotonic dystrophy type I patient. ( 28344442 )
2016
363
Hard ways towards adulthood: the transition phase in young people with myotonic dystrophy. ( 28484315 )
2016
364
Brain sonography insight into the midbrain in myotonic dystrophy type 2. ( 26425828 )
2016
365
Brain tumors in patients with myotonic dystrophy: a population-based study. ( 26508558 )
2016
366
Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy. ( 26510705 )
2016
367
Electromechanical delay components during skeletal muscle contraction and relaxation in patients with myotonic dystrophy type 1. ( 26520850 )
2016
368
Congenital and childhood-onset myotonic dystrophy: importance of long-term data in natural history. ( 26530027 )
2016
369
Undiagnosed myotonic dystrophy type 1 in a patient with synchronous thymoma and thyroid cancer. ( 26616569 )
2016
370
Safety of ustekinumab for the treatment of psoriasis vulgaris with myotonic dystrophy. ( 26643260 )
2016
371
Chloride channel dysfunction study in myotonic dystrophy type 1 using repeated short exercise tests. ( 26661627 )
2016
372
Congenital myotonic dystrophy: ventriculomegaly and shunt considerations for the pediatric neurosurgeon. ( 26747623 )
2016
373
ADDENDUM: Technical standards and guidelines for myotonic dystrophy type 1 testing. ( 26754337 )
2016
374
Brain MRI abnormalities in the adult form of myotonic dystrophy type 1: A longitudinal case series study. ( 26755488 )
2016
375
Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood. ( 26756355 )
2016
376
Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy. ( 26783549 )
2016
377
In vivo assessment of muscle membrane properties in myotonic dystrophy. ( 26789642 )
2016
378
Ocular Findings of Myotonic Dystrophy Type 1 in the Korean Population. ( 26816296 )
2016
379
Redox imbalance in peripheral blood of type 1 myotonic dystrophy patients. ( 26817806 )
2016
380
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study. ( 26849574 )
2016
381
A journey in bioinspired supramolecular chemistry: from molecular tweezers to small molecules that target myotonic dystrophy. ( 26877815 )
2016
382
Myotonic Dystrophy Type 1 with Syringomyelia in a Young Patient. ( 26879026 )
2016
383
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. ( 26882032 )
2016
384
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts. ( 26905645 )
2016
385
A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle. ( 26908607 )
2016
386
Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers. ( 26919350 )
2016
387
50 Years Ago in The Journal of Pediatrics: Myotonic Dystrophy: A Neglected Form of Mental Retardation. ( 26922763 )
2016
388
Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome. ( 26948709 )
2016
389
Myotonic dystrophy type 1 presenting with asymmetric winged scapulae. ( 26969833 )
2016
390
Knowledge of Sub-Types Important to Understanding of the Prevalence of Myotonic Dystrophy. ( 26974673 )
2016
391
Major involvement of trunk muscles in myotonic dystrophy type 1. ( 26984572 )
2016
392
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients. ( 26994442 )
2016
393
Overweight Is an Independent Risk Factor for Reduced Lung Volumes in Myotonic Dystrophy Type 1. ( 27015655 )
2016
394
Staufen1 impairs stress granule formation in skeletal muscle cells from myotonic dystrophy type 1 patients. ( 27030674 )
2016
395
Variable genetic penetrance of myotonic dystrophy following the diagnosis of idiopathic polyhydramnios. ( 27039051 )
2016
396
Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study. ( 27044540 )
2016
397
Myotonic dystrophy type 1: frequency of ophthalmologic findings. ( 27050845 )
2016
398
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. ( 27063795 )
2016
399
A population-based survey of risk for cancer in individuals diagnosed with myotonic dystrophy. ( 27064430 )
2016
400
Effects of Functional Electrical Stimulation Lower Extremity Training in Myotonic Dystrophy Type I: A Pilot Controlled Study. ( 27088471 )
2016
401
Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy. ( 27126921 )
2016
402
Structural and electrical cardiac abnormalities are prevalent in asymptomatic adults with myotonic dystrophy. ( 27164920 )
2016
403
Genome Therapy of Myotonic Dystrophy Type 1 iPS Cells for Development of Autologous Stem Cell Therapy. ( 27203440 )
2016
404
Quality of life in patients with myotonic dystrophy type 2. ( 27206898 )
2016
405
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype. ( 27222292 )
2016
406
Stanford Chronic Disease Self-Management Program in myotonic dystrophy: New opportunities for occupational therapists: Stanford Chronic Disease Self-Management Program dans la dystrophie myotonique : De nouvelles opportunités pour les ergothérapeutes. ( 27231386 )
2016
407
Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1. ( 27234310 )
2016
408
A Potent Inhibitor of Protein Sequestration by Expanded Triplet (CUG) Repeats that Shows Phenotypic Improvements in a Drosophila Model of Myotonic Dystrophy. ( 27245480 )
2016
409
Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1. ( 27253733 )
2016
410
Myotonic dystrophy type 1. ( 27270116 )
2016
411
Identification of Plant-derived Alkaloids with Therapeutic Potential for Myotonic Dystrophy Type I. ( 27298317 )
2016
412
Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study. ( 27306634 )
2016
413
Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1. ( 27313901 )
2016
414
A Molecular Signature of Myalgia in Myotonic Dystrophy 2. ( 27322473 )
2016
415
Cognition in myotonic dystrophy type 1: a 5-year follow-up study. ( 27323306 )
2016
416
Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1. ( 27330968 )
2016
417
Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1. ( 27358583 )
2016
418
Cardiac Involvement in Myotonic Dystrophy Type 2 Patients With Preserved Ejection Fraction: Detection by Cardiovascular Magnetic Resonance. ( 27363857 )
2016
419
Targeting the Heart for Risk Assessment in Myotonic Dystrophy: An Application for Cardiac Magnetic Resonance. ( 27363858 )
2016
420
Pilomatrixoma of the breast in a patient with type 1 myotonic dystrophy: successful surgical approach. ( 27373126 )
2016
421
In myotonic dystrophy type 1 reduced FDG-uptake on FDG-PET is most severe in Brodmann area 8. ( 27411408 )
2016
422
Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1. ( 27437180 )
2016
423
Supraventricular and Ventricular Arrhythmias Are Related to the Type of Myotonic Dystrophy but Not to Disease Duration or Neurological Status. ( 27444982 )
2016
424
Muscle MRI of the Upper Extremity in the Myotonic Dystrophy Type 1. ( 27466802 )
2016
425
Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. ( 27484195 )
2016
426
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells. ( 27501221 )
2016
427
Renal dysfunction can be a common complication in patients with myotonic dystrophy 1. ( 27538647 )
2016
428
Factors influencing compliance with non-invasive ventilation at long-term in patients with myotonic dystrophy type 1: A prospective cohort. ( 27542439 )
2016
429
Using digital technologies to engage with medical research: views of myotonic dystrophy patients in Japan. ( 27553007 )
2016
430
Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation. ( 27609169 )
2016
431
Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study. ( 27611986 )
2016
432
Opioid-free general anesthesia in patient with Steinert syndrome (myotonic dystrophy): Case report. ( 27631259 )
2016
433
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification. ( 27665240 )
2016
434
Myotonic Dystrophy and Huntington's Disease Care: "We Like to Think We're Making a Difference". ( 27670211 )
2016
435
Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy. ( 27681373 )
2016
436
Anesthetic management of a myotonic dystrophy patient with paraganglionoma. ( 27687340 )
2016
437
Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I. ( 27695661 )
2016
438
Five-year study of quality of life in myotonic dystrophy. ( 27696366 )
2016
439
Molecular Diagnosis of Myotonic Dystrophy. ( 27727437 )
2016
440
Multiple pilomatricomas in the setting of myotonic dystrophy. ( 28329537 )
2016
441
Oral hygiene aspects in a study of children and young adults with the congenital and childhood forms of myotonic dystrophy type 1. ( 29744165 )
2016
442
Imaging in Myotonic Dystrophy Type 1 - Case Reports. ( 30151479 )
2016
443
Clinical characteristics of 37 Chinese patients with myotonic dystrophy Type 1. ( 30276279 )
2016
444
Myotonic dystrophy health index: Correlations with clinical tests and patient function. ( 26044513 )
2016
445
The Role of the Atrial Electromechanical Delay in Predicting Atrial Fibrillation in Myotonic Dystrophy Type 1 Patients. ( 26331589 )
2016
446
Role of prucalopride in treatment of chronic constipation and recurrent functional obstruction in a patient with steinert myotonic dystrophy. ( 24804990 )
2015
447
Gastrobronchial fistula following minimally invasive esophagectomy for esophageal cancer in a patient with myotonic dystrophy: Case report. ( 26520033 )
2015
448
Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: A Case Report and Review of the Literature. ( 26175917 )
2015
449
Feasibility of Lung Volume Recruitment in Early Neuromuscular Weakness: A Comparison Between Amyotrophic Lateral Sclerosis, Myotonic Dystrophy, and Postpolio Syndrome. ( 25845857 )
2015
450
Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis. ( 26138792 )
2015
451
Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritis. ( 25443993 )
2015
452
Cortical involvement during myotonia in myotonic dystrophy: an fMRI study. ( 25630356 )
2015
453
Toe-extension myotonia in myotonic dystrophy type 1. ( 26170401 )
2015
454
The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study. ( 27858748 )
2015
455
Picturing the Experience of Living With Myotonic Dystrophy (DM1): A Qualitative Exploration Using Photovoice. ( 26348433 )
2015
456
Myotonic Dystrophy Type 1 Complicated With Peripheral Arterial Occlusive Disease: A Case Report. ( 26361604 )
2015
457
Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1). ( 26391753 )
2015
458
Studying a Drug-like, RNA-Focused Small Molecule Library Identifies Compounds That Inhibit RNA Toxicity in Myotonic Dystrophy. ( 26414664 )
2015
459
Rationally designed small molecules that target both the DNA and RNA causing myotonic dystrophy type 1. ( 26473464 )
2015
460
Reconstructing the Rasch-Built Myotonic Dystrophy Type 1 Activity and Participation Scale. ( 26484877 )
2015
461
Computational investigation of RNA CUG repeats responsible for myotonic dystrophy 1. ( 26500461 )
2015
462
Development and Validation of a New Molecular Diagnostic Assay for Detection of Myotonic Dystrophy Type 2. ( 26505324 )
2015
463
Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction. ( 26515653 )
2015
464
Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. ( 26566479 )
2015
465
Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2). ( 26581301 )
2015
466
Atrial electromechanical delay in myotonic dystrophy type 1 patients. ( 26592817 )
2015
467
Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1. ( 26640575 )
2015
468
Actinomycin D Specifically Reduces Expanded CUG Repeat RNA in Myotonic Dystrophy Models. ( 26686629 )
2015
469
Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: a useful tool in myotonic dystrophy type 1. ( 26708183 )
2015
470
Swallowing dysfunction in myotonic dystrophy: a retrospective study of symptomatology and radiographic findings. ( 26891535 )
2015
471
Unmasked Brugada pattern by ajmaline challenge in patients with myotonic dystrophy type 1. ( 24943134 )
2015
472
Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1. ( 25052313 )
2015
473
Shorter CTG repeats length in an oligodendroglioma from a myotonic dystrophy type 1 patient. ( 25096749 )
2015
474
Understanding the experience of myotonic dystrophy. Mixed method study. ( 25123360 )
2015
475
Endocrine function over time in patients with myotonic dystrophy type 1. ( 25155546 )
2015
476
A fly model for the CCUG-repeat expansion of myotonic dystrophy type 2 reveals a novel interaction with MBNL1. ( 25305073 )
2015
477
Altered nuclear structure in myotonic dystrophy type 1-derived fibroblasts. ( 25307018 )
2015
478
Frontostriatal dysexecutive syndrome: a core cognitive feature of myotonic dystrophy type 2. ( 25346064 )
2015
479
Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases. ( 25380585 )
2015
480
Evaluation of CNS involvement in myotonic dystrophy type 1 and type 2 by transcranial sonography. ( 25385052 )
2015
481
Lower limb muscle impairment in myotonic dystrophy type 1: the need for better guidelines. ( 25399769 )
2015
482
Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study. ( 25440959 )
2015
483
Muscle force, balance and falls in muscular impaired individuals with myotonic dystrophy type 1: a five-year prospective cohort study. ( 25475393 )
2015
484
Resveratrol enhances splicing of insulin receptor exon 11 in myotonic dystrophy type 1 fibroblasts. ( 25476247 )
2015
485
Metabolic syndrome in patients with myotonic dystrophy type 1. ( 25487787 )
2015
486
Sleep and breathing disorders in myotonic dystrophy type 2. ( 25496235 )
2015
487
Psychological characteristics of patients with myotonic dystrophy type 1. ( 25496310 )
2015
488
TWEAK/Fn14, a pathway and novel therapeutic target in myotonic dystrophy. ( 25504044 )
2015
489
Long-term arrhythmia follow-up of patients with myotonic dystrophy. ( 25546341 )
2015
490
Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1. ( 25613807 )
2015
491
Primary cataract as a key to recognition of myotonic dystrophy type 1. ( 25655594 )
2015
492
Cardiac involvement in myotonic dystrophy. ( 25656662 )
2015
493
SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype. ( 25660391 )
2015
494
Efficient and highly sensitive screen for myotonic dystrophy type 1 using a one-step triplet-primed PCR and melting curve assay. ( 25684273 )
2015
495
Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells. ( 25702800 )
2015
496
Anticipation in myotonic dystrophy type 1 parents with small CTG expansions. ( 25712547 )
2015
497
Lack of correlation between the ventilatory response to CO2 and lung function impairment in myotonic dystrophy patients: evidence for a dysregulation at central level. ( 25753091 )
2015
498
Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy. ( 25753670 )
2015
499
Myotonic dystrophy and the heart: A systematic review of evaluation and management. ( 25769007 )
2015
500
Cell membrane integrity in myotonic dystrophy type 1: implications for therapy. ( 25799359 )
2015
501
Report of the second Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-2) international workshop San Sebastian, Spain, October 16, 2013. ( 25802024 )
2015
502
Skin features in myotonic dystrophy type 1: an observational study. ( 25813338 )
2015
503
Diffuse brain abnormalities in myotonic dystrophy type 1 detected by 3.0 T proton magnetic resonance spectroscopy. ( 25824277 )
2015
504
Truths and misinformation: a qualitative exploration of myotonic dystrophy. ( 25867706 )
2015
505
Celf1 regulates cell cycle and is partially responsible for defective myoblast differentiation in myotonic dystrophy RNA toxicity. ( 25887157 )
2015
506
Myotonic dystrophy with reticular maculopathy as first ocular symptom. ( 25902125 )
2015
507
Paroxysmal atrial fibrillation in myotonic dystrophy type 1 patients: P wave duration and dispersion analysis. ( 25912584 )
2015
508
Elevated Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relate to Muscle Disease Progress. ( 25915631 )
2015
509
Syncope in a patient with myotonic dystrophy. ( 25917177 )
2015
510
Myotonic dystrophy-1 complicated by factor-v (leiden) mutation. ( 25918532 )
2015
511
Characteristic MRI Findings of upper Limb Muscle Involvement in Myotonic Dystrophy Type 1. ( 25919300 )
2015
512
Selective disappearance of medial back muscles in a case of myotonic dystrophy type 1. ( 25940325 )
2015
513
Assessing upper extremity capacity as a potential indicator of needs related to household activities for rehabilitation services in people with myotonic dystrophy type 1. ( 25953319 )
2015
514
Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1. ( 25958258 )
2015
515
Myotonic dystrophy type 1 associated with white matter hyperintense lesions: clinic, imaging, and genetic analysis. ( 25963366 )
2015
516
Impairment of Global and Regional Longitudinal Strains in patients with Myotonic Dystrophy type 1. ( 25965595 )
2015
517
Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial. ( 26002596 )
2015
518
Compound heterozygous myotonic dystrophy type 1. ( 26010008 )
2015
519
Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy. ( 26018658 )
2015
520
The successful use of sugammadex and uneventful recovery from general anaesthesia in a patient with myotonic dystrophy. ( 26019363 )
2015
521
Peripheral nerve involvement in myotonic dystrophy type 2 - similar or different than in myotonic dystrophy type 1? ( 26048604 )
2015
522
Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy. ( 26082468 )
2015
523
Myotonic dystrophy kinase-related Cdc42-binding kinases (MRCK), the ROCK-like effectors of Cdc42 and Rac1. ( 26090570 )
2015
524
Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model. ( 26092529 )
2015
525
Biological Efficacy and Toxicity of Diamidines in Myotonic Dystrophy Type 1 Models. ( 26103061 )
2015
526
Therapeutic Approaches for Dominant Muscle Diseases: Highlight on Myotonic Dystrophy. ( 26122101 )
2015
527
Interatrial block, supraventricular arrhythmias and myotonic dystrophy. ( 26166634 )
2015
528
Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle. ( 26170059 )
2015
529
Relative risks for comorbidities associated with myotonic dystrophy: A population-based analysis. ( 26172955 )
2015
530
Variability of multisystemic features in myotonic dystrophy type 1--lessons from Serbian registry. ( 26184384 )
2015
531
Myotonic dystrophy as a cause of colonic pseudoobstruction: not just another constipated child. ( 26185641 )
2015
532
Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells. ( 26190529 )
2015
533
How genetics affects the brain to produce higher-level dysfunctions in myotonic dystrophy type 1. ( 26214024 )
2015
534
MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain. ( 26257173 )
2015
535
Prevalence and correlates of apathy in myotonic dystrophy type 1. ( 26296336 )
2015
536
Identification and characterization of modified antisense oligonucleotides targeting DMPK in mice and nonhuman primates for the treatment of myotonic dystrophy type 1. ( 26330536 )
2015
537
Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2-3 December 2014, Milan, Italy. ( 26341263 )
2015
538
Laboratory and Clinical Findings Imitating Myotonic Dystrophy in the Patient with Late-Onset Pompe Disease. ( 27858629 )
2015
539
Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism. ( 27858759 )
2015
540
[Genetic Variability and Structure of SNP Haplotypes in the DMPK Gene in Yakuts and Other Ethnic Groups of Northern Eurasia in Relation to Myotonic Dystrophy]. ( 26310035 )
2015
541
Transient complete atrioventricular block in a preterm neonate with congenital myotonic dystrophy: case report. ( 24932094 )
2014
542
Prevalence of type 1 Brugada ECG pattern after administration of Class 1C drugs in patients with type 1 myotonic dystrophy: Myotonic dystrophy as a part of the Brugada syndrome. ( 25016148 )
2014
543
Fuchs endothelial corneal dystrophy in patients with myotonic dystrophy: a case series. ( 24270677 )
2014
544
Oropharyngeal dysphagia in myotonic dystrophy type 1: a systematic review. ( 24458731 )
2014
545
Myasthenia gravis and thymoma coexisting with myotonic dystrophy type 1. ( 24291332 )
2014
546
Grip and percussion myotonia in myotonic dystrophy type 1. ( 24560185 )
2014
547
Myotonic dystrophy. ( 25037086 )
2014
548
Does quantitative EMG differ myotonic dystrophy type 2 and type 1? ( 25052913 )
2014
549
Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study. ( 25086734 )
2014
550
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. ( 25092929 )
2014
551
Recurrent takotsubo syndrome in a patient with myotonic dystrophy 1. ( 25101654 )
2014
552
Adaptor protein LRAP25 mediates myotonic dystrophy kinase-related Cdc42-binding kinase (MRCK) regulation of LIMK1 protein in lamellipodial F-actin dynamics. ( 25107909 )
2014
553
Cognitive impairment in myotonic dystrophy type 1 is associated with white matter damage. ( 25115999 )
2014
554
Myotonic dystrophy: diagnosis, management and new therapies. ( 25121518 )
2014
555
RNA Transcription and Maturation in Skeletal Muscle Cells are Similarly Impaired in Myotonic Dystrophy and Sarcopenia: The Ultrastructural Evidence. ( 25126079 )
2014
556
Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2. ( 25139674 )
2014
557
Congenital myotonic dystrophy: natural disease progression and facial dysmorphology. ( 25144154 )
2014
558
RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1. ( 25211016 )
2014
559
Significant impact of behavioral and cognitive impairment on quality of life in patients with myotonic dystrophy type 1. ( 25215445 )
2014
560
White matter lesions in myotonic dystrophy type 1 co-locate with dilated perivascular spaces. ( 25218663 )
2014
561
Development of a Drosophila melanogaster spliceosensor system for in vivo high-throughput screening in myotonic dystrophy type 1. ( 25239918 )
2014
562
Laparoscopic cholecystectomy in Steinert's myotonic dystrophy. About two clinical cases. ( 25263797 )
2014
563
Swallowing assessment in myotonic dystrophy type 1 using fiberoptic endoscopic evaluation of swallowing (FEES). ( 25264166 )
2014
564
Modifications to toxic CUG RNAs induce structural stability, rescue mis-splicing in a myotonic dystrophy cell model and reduce toxicity in a myotonic dystrophy zebrafish model. ( 25303993 )
2014
565
Anterior temporal white matter lesions in adult-form myotonic dystrophy type 1. ( 25410458 )
2014
566
Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1). ( 25424323 )
2014
567
Cardiovascular profile in myotonic dystrophy type 1: Analysis of a case series in a specialized center. ( 25481780 )
2014
568
Concurrence of myotonic dystrophy and epilepsy: a case report. ( 25496057 )
2014
569
Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction. ( 25578974 )
2014
570
Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India. ( 25606394 )
2014
571
Far field R-wave sensing in Myotonic Dystrophy type 1: right atrial appendage versus Bachmann's bundle region lead placement. ( 25709379 )
2014
572
Adenosine-induced sinus tachycardia in a patient with Myotonic Dystrophy type 1. ( 25709381 )
2014
573
The effect of atrial preference pacing on atrial fibrillation electrophysiological substrate in Myotonic Dystrophy type 1 population. ( 25873781 )
2014
574
Ventricular fibrillation induced by coagulating mode bipolar electrocautery during pacemaker implantation in Myotonic Dystrophy type 1 patient. ( 25873784 )
2014
575
Abnormal Lactate Levels Affect Motor Performance in Myotonic Dystrophy Type 1. ( 26913141 )
2014
576
Cerebrospinal fluid biomarkers of neurodegeneration in patients with juvenile and classic myotonic dystrophy type 1. ( 23834502 )
2014
577
Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires. ( 23837695 )
2014
578
Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes. ( 23888875 )
2014
579
Myotonic dystrophy is not only a disease affecting the muscles, it is also a CNS disorder. ( 23941310 )
2014
580
Dependent and paranoid personality patterns in myotonic dystrophy type 1. ( 24032453 )
2014
581
Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1. ( 24092878 )
2014
582
Atrial flutter or fibrillation is the most frequent and life-threatening arrhythmia in myotonic dystrophy. ( 24117873 )
2014
583
Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1. ( 24132671 )
2014
584
Myotonic Dystrophy Health Index: initial evaluation of a disease-specific outcome measure. ( 24142420 )
2014
585
High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines. ( 24179176 )
2014
586
Treatment of type 1 myotonic dystrophy by engineering site-specific RNA endonucleases that target (CUG)(n) repeats. ( 24196578 )
2014
587
Generalized epilepsy in a patient with myotonic dystrophy type 2. ( 24277201 )
2014
588
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. ( 24310756 )
2014
589
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. ( 24332166 )
2014
590
Structure of the myotonic dystrophy type 2 RNA and designed small molecules that reduce toxicity. ( 24341895 )
2014
591
Transcriptionally correlated subcellular dynamics of MBNL1 during lens development and their implication for the molecular pathology of myotonic dystrophy type 1. ( 24354850 )
2014
592
Transcranial sonography in patients with myotonic dystrophy type 1. ( 24395217 )
2014
593
Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy. ( 24409116 )
2014
594
Factors of importance for dynamic balance impairment and frequency of falls in individuals with myotonic dystrophy type 1 - a cross-sectional study - including reference values of Timed Up & Go, 10m walk and step test. ( 24412157 )
2014
595
The Mef2 transcription network is disrupted in myotonic dystrophy heart tissue, dramatically altering miRNA and mRNA expression. ( 24412363 )
2014
596
Pain location and intensity impacts function in persons with myotonic dystrophy type 1 and facioscapulohumeral dystrophy with chronic pain. ( 24415580 )
2014
597
Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy. ( 24417793 )
2014
598
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2. ( 24430576 )
2014
599
Recent advances in myotonic dystrophy type 2. ( 24435591 )
2014
600
Supine changes in lung function correlate with chronic respiratory failure in myotonic dystrophy patients. ( 24440340 )
2014
601
Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2. ( 24440524 )
2014
602
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. ( 24446176 )
2014
603
Imbalanced oxidant and antioxidant ratio in myotonic dystrophy type 1. ( 24472045 )
2014
604
Neonatal neuroimaging findings in congenital myotonic dystrophy. ( 24476662 )
2014
605
Facial memory deficits in myotonic dystrophy type 1. ( 24527956 )
2014
606
Insufficiency of electrocardiogram alone in predicting infrahisian abnormalities in patients with type 1 myotonic dystrophy. ( 24560399 )
2014
607
Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24-27, 2013, Ferrere (AT), Italy. ( 24613228 )
2014
608
Investigation of molecular diagnosis in Chinese patients with myotonic dystrophy type 1. ( 24622439 )
2014
609
Abnormal functional brain connectivity and personality traits in myotonic dystrophy type 1. ( 24664202 )
2014
610
Plasma microRNAs as biomarkers for myotonic dystrophy type 1. ( 24679513 )
2014
611
Targeting toxic RNAs that cause myotonic dystrophy type 1 (DM1) with a bisamidinium inhibitor. ( 24702247 )
2014
612
High prevalence of cardiac involvement in patients with myotonic dystrophy type 1: a cross-sectional study. ( 24704412 )
2014
613
Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling. ( 24715907 )
2014
614
Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2. ( 24722564 )
2014
615
Cardiac involvement in myotonic dystrophy: a nationwide cohort study. ( 24742887 )
2014
616
Impact of habitual exercise on the strength of individuals with myotonic dystrophy type 1. ( 24743456 )
2014
617
Tractography reveals diffuse white matter abnormalities in Myotonic Dystrophy Type 1. ( 24768314 )
2014
618
Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation. ( 24768612 )
2014
619
Development of an AP-FRET based analysis for characterizing RNA-protein interactions in myotonic dystrophy (DM1). ( 24781112 )
2014
620
Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR. ( 24795756 )
2014
621
Ovarian reserve and PGD treatment outcome in women with myotonic dystrophy. ( 24813161 )
2014
622
Small molecule kinase inhibitors alleviate different molecular features of myotonic dystrophy type 1. ( 24824895 )
2014
623
Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study. ( 24838088 )
2014
624
Myotonic dystrophy diagnosed after cesarean section. ( 24854518 )
2014
625
LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity. ( 24878509 )
2014
626
Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions. ( 24907641 )
2014
627
Myotonic dystrophy: time for evidence-based therapy. ( 24935921 )
2014
628
Small molecules that target the toxic RNA in myotonic dystrophy type 2. ( 24938413 )
2014
629
Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1. ( 26483914 )
2014
630
Cognitive Deficits Associated with Sleep Apnea in Myotonic Dystrophy Type 1. ( 27858667 )
2014
631
The impact of congenital and childhood myotonic dystrophy on quality of life: a qualitative study of associated symptoms. ( 23611887 )
2014
632
DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1. ( 24792155 )
2014
633
Early changes of myocardial deformation properties in patients with dystrophia myotonica type 1: a three-dimensional Speckle Tracking echocardiographic study. ( 25127337 )
2014
634
Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1. ( 24140416 )
2013
635
Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease. ( 24047873 )
2013
636
Hypogonadism and erectile dysfunction in myotonic dystrophy type 1. ( 24399868 )
2013
637
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy. ( 23729582 )
2013
638
Sugammadex reversal of rocuronium-induced neuromuscular blockade in two types of neuromuscular disorders: Myotonic dystrophy and spinal muscular atrophy. ( 22947194 )
2013
639
The coexistence of myasthenia gravis and myotonic dystrophy type 2 in a single patient. ( 23626652 )
2013
640
Teaching video neuroimages: trapezius myotonia percussion sign in myotonic dystrophy type 2. ( 23751923 )
2013
641
Ultrasound-enhanced delivery of morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice. ( 23873129 )
2013
642
Somatic instability of CTG repeats in the cerebellum of myotonic dystrophy type 1. ( 23629807 )
2013
643
Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2. ( 23666741 )
2013
644
Successful use of BiPAP in infants with congenital myotonic dystrophy. ( 23679166 )
2013
645
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing. ( 23680132 )
2013
646
Cardiologic predictors of sudden death in patients with myotonic dystrophy type 1. ( 23683744 )
2013
647
Two is better than one: a case of homozygous myotonic dystrophy type 1. ( 23704040 )
2013
648
Structural myocardial involvement in adult patients with type 1 myotonic dystrophy. ( 23717784 )
2013
649
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. ( 23749798 )
2013
650
Vitamin D deficiency in myotonic dystrophy type 1. ( 23754696 )
2013
651
The effect of rocuronium and sugammadex on neuromuscular blockade in a child with congenital myotonic dystrophy type 1. ( 23763618 )
2013
652
Von Hippel-Lindau and myotonic dystrophy of Steinert along with pancreatic neuroendocrine tumor and renal clear cell carcinomal neoplasm: Case report and review of the literature. ( 23774333 )
2013
653
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1. ( 23786791 )
2013
654
Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report. ( 23803495 )
2013
655
Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules. ( 23806903 )
2013
656
Diagnostic odyssey of patients with myotonic dystrophy. ( 23807151 )
2013
657
Muscleblind-like1 undergoes ectopic relocation in the nuclei of skeletal muscles in myotonic dystrophy and sarcopenia. ( 23807294 )
2013
658
Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length. ( 23811192 )
2013
659
Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice. ( 23828222 )
2013
660
A case of myotonic dystrophy with electrolyte imbalance. ( 23853500 )
2013
661
Noncompaction predisposing for recurrent Takotsubo syndrome in myotonic dystrophy 1. ( 23890854 )
2013
662
Prolonged Corrected QT Interval in Patients with Myotonic Dystrophy Type 1. ( 23894242 )
2013
663
Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy. ( 23901116 )
2013
664
A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1. ( 23922231 )
2013
665
Splicing biomarkers of disease severity in myotonic dystrophy. ( 23929620 )
2013
666
Cardiac fibrosis, arrhythmia and sudden death in myotonic dystrophy type 1: could TGF-ß1 improve the predictive accuracy of patients at risk, opening new therapeutic challenges? ( 23931970 )
2013
667
Length-dependent CTG·CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells. ( 23933738 )
2013
668
Chronic muscle stimulation improves muscle function and reverts the abnormal surface EMG pattern in myotonic dystrophy: a pilot study. ( 23938156 )
2013
669
Report of the first Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-1) international workshop: Clearwater, Florida, November 30, 2011. ( 24011704 )
2013
670
Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1). ( 24039817 )
2013
671
In vivo strategies for drug discovery in myotonic dystrophy disorders. ( 24050236 )
2013
672
MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011. ( 24054840 )
2013
673
Myotonic dystrophy protein kinase (DMPK) prevents ROS-induced cell death by assembling a hexokinase II-Src complex on the mitochondrial surface. ( 24136222 )
2013
674
Longitudinal in vivo muscle function analysis of the DMSXL mouse model of myotonic dystrophy type 1. ( 24139022 )
2013
675
Clinical, psychosocial, and central correlates of quality of life in myotonic dystrophy type 1 patients. ( 24158106 )
2013
676
Developing bivalent ligands to target CUG triplet repeats, the causative agent of myotonic dystrophy type 1. ( 24188018 )
2013
677
Quantifying cancer absolute risk and cancer mortality in the presence of competing events after a myotonic dystrophy diagnosis. ( 24236163 )
2013
678
Bent spine syndrome as an early manifestation of myotonic dystrophy type 1. ( 24263032 )
2013
679
Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients. ( 24289806 )
2013
680
Compound loss of muscleblind-like function in myotonic dystrophy. ( 24293317 )
2013
681
Does a high percentage of right ventricular pacing influence the incidence of paroxysmal atrial fibrillation in myotonic dystrophy type 1 patients? ( 24297712 )
2013
682
Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues. ( 24367268 )
2013
683
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2. ( 24376746 )
2013
684
Cardiac manifestations in myotonic dystrophy type 1 patients followed using a standard protocol in a specialized unit. ( 24775453 )
2013
685
Atrial fibrillation burden in Myotonic Dystrophy type 1 patients implanted with dual chamber pacemaker: the efficacy of the overdrive atrial algorithm at 2 year follow-up. ( 24803841 )
2013
686
Influence of multisystemic affection on health-related quality of life in patients with myotonic dystrophy type 1. ( 22695270 )
2013
687
Fatigue and daytime sleepiness scale in myotonic dystrophy type 1. ( 23042586 )
2013
688
Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model. ( 23118342 )
2013
689
Inner ear dysfunction in myotonic dystrophy type 1. ( 23121018 )
2013
690
Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients. ( 23139243 )
2013
691
Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1. ( 23159592 )
2013
692
MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1. ( 23161457 )
2013
693
Muscle phenotype in patients with myotonic dystrophy type 1. ( 23169601 )
2013
694
Functional and histopathological identification of the respiratory failure in a DMSXL transgenic mouse model of myotonic dystrophy. ( 23180777 )
2013
695
Cardiac involvement in myotonic dystrophy type 1--do not forget the loop recorder! ( 23181994 )
2013
696
RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy. ( 23183533 )
2013
697
Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1. ( 23192171 )
2013
698
Prevalence of lifestyle risk factors in myotonic dystrophy type 1. ( 23250126 )
2013
699
Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy. ( 23252746 )
2013
700
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions. ( 23263591 )
2013
701
The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): long-term outcomes. ( 23266299 )
2013
702
Response letter to "Cardiac involvement in myotonic dystrophy type 1--do not forget the loop recorder!". ( 23276392 )
2013
703
Systemic delivery of a Peptide-linked morpholino oligonucleotide neutralizes mutant RNA toxicity in a mouse model of myotonic dystrophy. ( 23308382 )
2013
704
Genetics correlates with lung function and nocturnal ventilation in myotonic dystrophy. ( 23319325 )
2013
705
Peripheral neuropathy in patients with myotonic dystrophy type 1. ( 23336676 )
2013
706
Is there a difference in gastric emptying between myotonic dystrophy type 1 patients with and without gastrointestinal symptoms? ( 23344626 )
2013
707
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour. ( 23404338 )
2013
708
Association between uveal melanoma and myotonic dystrophy: a series of 3 cases. ( 23411896 )
2013
709
Congenital myotonic dystrophy: Canadian population-based surveillance study. ( 23415617 )
2013
710
Daytime sleepiness and myotonic dystrophy. ( 23430686 )
2013
711
mTOR-dependent proliferation defect in human ES-derived neural stem cells affected by myotonic dystrophy type 1. ( 23444380 )
2013
712
Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report. ( 23453858 )
2013
713
Oral motor movements and swallowing in patients with myotonic dystrophy type 1. ( 23460343 )
2013
714
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study. ( 23466272 )
2013
715
A novel CUG(exp)·MBNL1 inhibitor with therapeutic potential for myotonic dystrophy type 1. ( 23480597 )
2013
716
Effects of hand-training in persons with myotonic dystrophy type 1--a randomised controlled cross-over pilot study. ( 23480644 )
2013
717
Neurofibrillary tangles in the peripheral sympathetic ganglia of patients with myotonic dystrophy. ( 23488470 )
2013
718
New insights about the incidence, multisystem manifestations, and care of patients with congenital myotonic dystrophy. ( 23507025 )
2013
719
Sugammadex in a parturient with myotonic dystrophy. ( 23508494 )
2013
720
Design and analysis of effects of triplet repeat oligonucleotides in cell models for myotonic dystrophy. ( 23511335 )
2013
721
Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression. ( 23525904 )
2013
722
Mechanical and electrophysiological substrate for recurrent atrial flutter detected by right atrial speckle tracking echocardiography and electroanatomic mapping in myotonic dystrophy type 1. ( 23547181 )
2013
723
Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus. ( 23561036 )
2013
724
Myotonic dystrophy type 1 (DM1): a triplet repeat expansion disorder. ( 23570879 )
2013
725
Molecular genetics and genetic testing in myotonic dystrophy type 1. ( 23586035 )
2013
726
Congenital and infantile myotonic dystrophy. ( 23622362 )
2013
727
Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells. ( 24705164 )
2013
728
Synaptic protein dysregulation in myotonic dystrophy type 1: Disease neuropathogenesis beyond missplicing. ( 25003003 )
2013
729
GSK3β is a new therapeutic target for myotonic dystrophy type 1. ( 25003008 )
2013
730
Simple Repeat-Primed PCR Analysis of the Myotonic Dystrophy Type 1 Gene in a Clinical Diagnostics Environment. ( 26317000 )
2013
731
Age, conduction defects and restrictive lung disease independently predict cardiac events and death in myotonic dystrophy. ( 21640397 )
2013
732
Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9. ( 22587749 )
2012
733
Dysphagia in Duchenne muscular dystrophy versus myotonic dystrophy type 1. ( 22987688 )
2012
734
Concomitant myotonic dystrophy type 1, CIDP-like neuropathy and Hashimoto thyroiditis: a causal link? ( 22971233 )
2012
735
Myotonic dystrophy type 1 presenting as male infertility. ( 22379595 )
2012
736
If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). ( 22155025 )
2012
737
Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8. ( 22581592 )
2012
738
A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy. ( 22113158 )
2012
739
Myotonic Dystrophy Type 1 or Steinert's disease. ( 22411247 )
2012
740
Skeletal muscle involvement in myotonic dystrophy type 2. A comparative muscle ultrasound study. ( 22414627 )
2012
741
Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1--the patients' perspective. ( 22425060 )
2012
742
Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain. ( 22427994 )
2012
743
Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease. ( 22453570 )
2012
744
Repression of nuclear CELF activity can rescue CELF-regulated alternative splicing defects in skeletal muscle models of myotonic dystrophy. ( 22453899 )
2012
745
Myotonic dystrophy type 1, daytime sleepiness and REM sleep dysregulation. ( 22465566 )
2012
746
Beneficial effect of digitoxin for heart failure from noncompaction in myotonic dystrophy 1. ( 22475848 )
2012
747
From dynamic combinatorial 'hit' to lead: in vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy. ( 22492623 )
2012
748
Myotonic dystrophy type 2 and multiple sclerosis: case report. ( 22502787 )
2012
749
Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy. ( 22513715 )
2012
750
Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2. ( 22520280 )
2012
751
Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center, randomized, double-blind, placebo-controlled, 3-week crossover trial. ( 22578232 )
2012
752
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity. ( 22595968 )
2012
753
Sensitivity to rocuronium-induced neuromuscular block and reversibility with sugammadex in a patient with myotonic dystrophy. ( 22606401 )
2012
754
Correlates of tumor development in patients with myotonic dystrophy. ( 22619053 )
2012
755
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. ( 22643181 )
2012
756
Winged scapula in patients with myotonic dystrophy type 1. ( 22683376 )
2012
757
REM behavior disorder in myotonic dystrophy type 2. ( 22689737 )
2012
758
Nuclear ribonucleoprotein-containing foci increase in size in non-dividing cells from patients with myotonic dystrophy type 2. ( 22706481 )
2012
759
The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome. ( 22723857 )
2012
760
Early onset "electrical" heart failure in myotonic dystrophy type 1 patient: the role of ICD biventricular pacing. ( 22728727 )
2012
761
Deregulated microRNAs in myotonic dystrophy type 2. ( 22768114 )
2012
762
Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). ( 22786587 )
2012
763
Delayed contrast enhancement on cardiac MRI unmasks subclinical cardiomyopathy in a case of myotonic dystrophy type 2. ( 22796821 )
2012
764
Magnetic resonance imaging findings in adult-form myotonic dystrophy type 1. ( 22815033 )
2012
765
Arrhythmia management in myotonic dystrophy type 1. ( 22820777 )
2012
766
Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study. ( 22827830 )
2012
767
Epidemiological surveillance of myotonic dystrophy type 1: a 25-year population-based study. ( 22858159 )
2012
768
Targeting nuclear RNA for in vivo correction of myotonic dystrophy. ( 22859208 )
2012
769
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. ( 22861906 )
2012
770
The importance of screening for internalizing symptoms, inattention, and cognitive difficulties in childhood-onset myotonic dystrophy. ( 22881348 )
2012
771
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. ( 22884328 )
2012
772
Butterfly-shaped pattern dystrophy in myotonic dystrophy. ( 22892517 )
2012
773
Myotonic dystrophy: is a narrow focus obscuring the rest of the field? ( 22892953 )
2012
774
Total intravenous anesthesia in a 10-month-old patient with congenital myotonic dystrophy undergoing endoscopic third ventriculostomy -A case report-. ( 22949987 )
2012
775
Sleep disordered breathing and other sleep dysfunction in myotonic dystrophy type 2. ( 22959494 )
2012
776
Upper thoracic myelopathy caused by delayed neck extensor weakness in myotonic dystrophy. ( 22977786 )
2012
777
A myotonic dystrophy 1 patient complicated with placental adherence after miscarriage of one dichorionic diamniotic twin following her tenth in vitro fertilization and embryo transfer. ( 23011730 )
2012
778
Skeletal muscle features in myotonic dystrophy and sarcopenia: do similar nuclear mechanisms lead to skeletal muscle wasting? ( 23027352 )
2012
779
Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1. ( 23030650 )
2012
780
Choroidal new vessels in type 1 myotonic dystrophy-related macular dystrophy respond to anti-VEGF therapy. ( 23037911 )
2012
781
A case report on 30-week premature twin babies with congenital myotonic dystrophy conceived by in vitro fertilization. ( 23091329 )
2012
782
Investigating the binding mode of an inhibitor of the MBNL1·RNA complex in myotonic dystrophy type 1 (DM1) leads to the unexpected discovery of a DNA-selective binder. ( 23097190 )
2012
783
Right atrial preference pacing algorithm in the prevention of paroxysmal atrial fibrillation in myotonic dystrophy type 1 patients: a long term follow-up study. ( 23097606 )
2012
784
ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro. ( 23097607 )
2012
785
Cardiac resynchronization improves heart failure in one patient with myotonic dystrophy type 1. A case report. ( 23097608 )
2012
786
Sleep disturbances in myotonic dystrophy type 2. ( 23108384 )
2012
787
Myotonic dystrophy: from bench to bedside. ( 23117949 )