MCID: MYT002
MIFTS: 49

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 74 52 25 58 36 29 54 6 71
Dystrophia Myotonica 52 25
Myotonia Dystrophica 52 25
Myotonia Atrophica 52 25
Myotonic Dystrophy 1 71

Characteristics:

Orphanet epidemiological data:

58
myotonic dystrophy
Prevalence: >1/1000,1-9/100000 (Worldwide),1-9/100000 (Europe),1-9/100000 (Italy),1-9/100000 (Japan),1-9/100000 (Ireland),1-5/10000 (Croatia),1-5/10000 (New Zealand),1-5/10000 (Finland),1-9/100000 (Norway),1-5/10000 (Spain),1-9/100000 (United States);

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

KEGG 36 H00568
MESH via Orphanet 44 D009223
ICD10 via Orphanet 33 G71.1
UMLS via Orphanet 72 C0027126 C0410226
Orphanet 58 ORPHA206647
UMLS 71 C0027126 C3250443

Summaries for Myotonic Dystrophy

Genetics Home Reference : 25 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. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw. Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). In affected men, hormonal changes may lead to early balding and an inability to father a child (infertility). The features of this disorder often develop during a person's twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family. There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1. The muscle weakness associated with type 1 particularly affects the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves the muscles of the neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are caused by mutations in different genes. A variation of type 1 myotonic dystrophy, called congenital myotonic dystrophy, is apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening.

MalaCards based summary : Myotonic Dystrophy, also known as dystrophia myotonica, is related to myotonic dystrophy 1 and myotonic dystrophy 2, 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 heart, testes and skeletal muscle, and related phenotypes are Increased cell viability after pRB stimulation and muscle

NIH Rare Diseases : 52 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.

KEGG : 36 Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 is caused by an unstable CCTG repeat in intron 1 of ZNF9. Therefore, both DMs are caused by a repeat expansion in a region transcribed into RNA but not translated into protein. The mutant RNA transcripts aberrantly affect the splicing of the same target RNAs, such as chloride channel 1 (ClC-1) and insulin receptor (INSR), resulting in their shared myotonia and insulin resistance. Affected individuals express highly heterogeneous, multisystemic symptoms including myotonia (muscle hyperexcitability), progressive muscle weakness and wasting, cataract development, testicular atrophy, and cardiac conduction defects. It has an autosomal dominant mode of inheritance and disease severity generally correlates with repeat length.

Wikipedia : 74 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 624, show less)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 1 31.8 SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
2 myotonic dystrophy 2 31.7 SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
3 myotonia 31.5 DMPK CNBP CLCN1
4 myotonia congenita 30.2 LOC108644431 DMPK CNBP CLCN1
5 autosomal dominant cerebellar ataxia 30.0 MBNL1 DMPK CNBP CELF1
6 neuromuscular disease 30.0 MBNL1 HSPB2 DMPK CNBP CELF1
7 fuchs' endothelial dystrophy 29.9 MBNL2 MBNL1 DMPK
8 spinocerebellar ataxia 8 29.8 MBNL1 DMPK CNBP CELF1
9 hyperkalemic periodic paralysis 29.7 DMPK CNBP CLCN1
10 cataract 29.6 SIX5 MBNL1 HSPB2 DMPK CNBP
11 fragile x-associated tremor/ataxia syndrome 29.5 MBNL1 DMPK CNBP CELF1
12 huntington disease-like 2 29.4 MBNL1 DMPK CNBP CELF1
13 muscular disease 29.1 MBNL2 MBNL1 DMPK CNBP CLCN1 CELF1
14 myotonic disease 28.0 SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
15 pilomatrixoma 11.8
16 hypotonia 11.7
17 dysphagia 11.7
18 myotonic cataract 11.6
19 swallowing disorders 11.6
20 nondystrophic myotonia 11.6
21 floppy infant syndrome 11.3
22 infantile hypotonia 11.3
23 muscular dystrophy 11.1
24 myopathy 10.9
25 muscular atrophy 10.8
26 respiratory failure 10.7
27 atrioventricular block 10.7
28 sleep apnea 10.7
29 cardiac conduction defect 10.6
30 neuropathy 10.6
31 hypogonadism 10.6
32 hyperinsulinism 10.6
33 hypogonadotropism 10.6
34 progressive familial heart block, type ia 10.6
35 polyhydramnios 10.6
36 ptosis 10.6
37 hypersomnia 10.5
38 glucose intolerance 10.5
39 left bundle branch hemiblock 10.5
40 huntington disease 10.5
41 atrial standstill 1 10.5
42 muscular dystrophy, duchenne type 10.5
43 ataxia and polyneuropathy, adult-onset 10.5
44 sleep disorder 10.5
45 peripheral nervous system disease 10.5
46 orthostatic intolerance 10.5
47 dilated cardiomyopathy 10.5
48 hyperparathyroidism 10.4
49 thymoma, familial 10.4
50 thymoma 10.4
51 hypogonadotropic hypogonadism 10.4
52 ventricular fibrillation, paroxysmal familial, 1 10.4
53 charcot-marie-tooth disease 10.4
54 clubfoot 10.4
55 first-degree atrioventricular block 10.4
56 hydrocephalus 10.4
57 polyneuropathy 10.4
58 congestive heart failure 10.4
59 hypoglycemia 10.4
60 aspiration pneumonia 10.4
61 hypothyroidism 10.4
62 cardiac arrhythmia 10.4
63 facioscapulohumeral muscular dystrophy 1 10.4
64 hydrocephalus, congenital, 1 10.4
65 fragile x syndrome 10.4
66 brugada syndrome 10.4
67 sick sinus syndrome 10.4
68 sensory peripheral neuropathy 10.4
69 cerebral atrophy 10.4
70 syncope 10.4
71 premature aging 10.4
72 diabetes mellitus, noninsulin-dependent 10.3
73 myasthenia gravis 10.3
74 constipation 10.3
75 hyperthyroidism 10.3
76 narcolepsy 10.3
77 alopecia 10.3
78 mammary paget's disease 10.3
79 kearns-sayre syndrome 10.3
80 alacrima, achalasia, and mental retardation syndrome 10.3
81 alkuraya-kucinskas syndrome 10.3
82 restless legs syndrome 10.3
83 atrial fibrillation 10.3
84 cardiac arrest 10.3
85 megacolon 10.3
86 mitochondrial myopathy 10.3
87 malignant hyperthermia 10.3
88 47,xyy 10.3
89 congenital amyoplasia 10.3
90 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
91 spinal muscular atrophy 10.3
92 diarrhea 10.3
93 impotence 10.3
94 melanoma 10.3
95 infertility 10.3
96 limb-girdle muscular dystrophy 10.3
97 progressive muscular dystrophy 10.3
98 hypertriglyceridemia, familial 10.2
99 myositis 10.2
100 neurofibromatosis, type iv, of riccardi 10.2
101 cholelithiasis 10.2
102 heart disease 10.2
103 azoospermia 10.2
104 hyperostosis 10.2
105 intestinal pseudo-obstruction 10.2
106 learning disability 10.2
107 central sleep apnea 10.2
108 amyotrophic lateral sclerosis 1 10.2
109 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
110 attention deficit-hyperactivity disorder 10.2
111 melanoma, uveal 10.2
112 endometrial cancer 10.2
113 muscular dystrophy, congenital, lmna-related 10.2
114 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
115 scoliosis 10.2
116 tooth disease 10.2
117 primary hyperparathyroidism 10.2
118 amenorrhea 10.2
119 personality disorder 10.2
120 lateral sclerosis 10.2
121 basal cell carcinoma 10.2
122 agammaglobulinemia 10.2
123 progressive muscular atrophy 10.2
124 adenoma 10.2
125 pathologic nystagmus 10.2
126 hypertrophic cardiomyopathy 10.2
127 autonomic dysfunction 10.2
128 varicocele 10.2
129 aminoaciduria 10.2
130 amyloidosis, hereditary, transthyretin-related 10.2
131 craniometaphyseal dysplasia, autosomal dominant 10.2
132 melkersson-rosenthal syndrome 10.2
133 nail-patella syndrome 10.2
134 thrombocytopenic purpura, autoimmune 10.2
135 atrioventricular dissociation 10.2
136 macular degeneration, age-related, 1 10.2
137 metabolic acidosis 10.2
138 hemiplegia 10.2
139 tetanus 10.2
140 ichthyosis 10.2
141 mitral valve stenosis 10.2
142 acromegaly 10.2
143 purpura 10.2
144 bone inflammation disease 10.2
145 pituitary adenoma 10.2
146 colonic pseudo-obstruction 10.2
147 muscle cancer 10.2
148 syphilis 10.2
149 latent syphilis 10.2
150 cutis verticis gyrata 10.2
151 spasticity 10.2
152 autoimmune disease 10.2
153 machado-joseph disease 10.2
154 strabismus 10.2
155 syringomyelia, noncommunicating isolated 10.2
156 friedreich ataxia 10.2
157 hypogonadism, male 10.2
158 myopathy, congenital 10.2
159 insulin-like growth factor i 10.2
160 body mass index quantitative trait locus 1 10.2
161 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.2
162 sinoatrial node disease 10.2
163 autism spectrum disorder 10.2
164 left ventricular noncompaction 10.2
165 male infertility 10.2
166 cholestasis 10.2
167 normal pressure hydrocephalus 10.2
168 heart septal defect 10.2
169 atrial heart septal defect 10.2
170 corneal dystrophy 10.2
171 gingivitis 10.2
172 syringomyelia 10.2
173 hyperglycemia 10.2
174 hypokalemia 10.2
175 ileus 10.2
176 lung disease 10.2
177 mechanical strabismus 10.2
178 pulmonary embolism 10.2
179 depression 10.2
180 periodic paralysis 10.2
181 thyroid carcinoma 10.2
182 gastroesophageal reflux 10.1
183 dentatorubral-pallidoluysian atrophy 10.1
184 multiple system atrophy 1 10.1
185 inclusion body myositis 10.1
186 paramyotonia congenita of von eulenburg 10.1
187 pheochromocytoma 10.1
188 down syndrome 10.1
189 volvulus of midgut 10.1
190 autism 10.1
191 hydrops fetalis, nonimmune 10.1
192 muscular dystrophy, becker type 10.1
193 progressive familial heart block, type ib 10.1
194 hydrops, lactic acidosis, and sideroblastic anemia 10.1
195 pulmonary hypertension 10.1
196 second-degree atrioventricular block 10.1
197 third-degree atrioventricular block 10.1
198 adrenal gland pheochromocytoma 10.1
199 miyoshi muscular dystrophy 10.1
200 myoglobinuria 10.1
201 tibial muscular dystrophy 10.1
202 alternating exotropia 10.1
203 exotropia 10.1
204 gastroparesis 10.1
205 goiter 10.1
206 graves' disease 10.1
207 leiomyoma 10.1
208 right bundle branch block 10.1
209 cerebral palsy 10.1
210 mood disorder 10.1
211 pseudohypoparathyroidism 10.1
212 pustulosis of palm and sole 10.1
213 movement disease 10.1
214 fibromyalgia 10.1
215 thyroiditis 10.1
216 parathyroid adenoma 10.1
217 placenta disease 10.1
218 myocarditis 10.1
219 psoriasis 10.1
220 skin melanoma 10.1
221 dyskinesia of esophagus 10.1
222 diabetes mellitus 10.1
223 hypoadrenalism 10.1
224 hypoaldosteronism 10.1
225 idiopathic hypersomnia 10.1
226 dysautonomia 10.1
227 hypoxia 10.1
228 pattern dystrophy 10.1
229 argyria 10.1
230 skeletal muscle disease 10.1
231 apnea, obstructive sleep 10.0
232 cleft palate, isolated 10.0
233 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.0
234 multiple sclerosis 10.0
235 fibrosis of extraocular muscles, congenital, 1 10.0
236 hashimoto thyroiditis 10.0
237 hypercholesterolemia, familial, 1 10.0
238 moebius syndrome 10.0
239 oculopharyngeal muscular dystrophy 10.0
240 spinocerebellar ataxia 1 10.0
241 palatopharyngeal incompetence 10.0
242 dowling-degos disease 1 10.0
243 retinoblastoma 10.0
244 celiac disease 1 10.0
245 myeloma, multiple 10.0
246 myopathy, congenital, with fiber-type disproportion 10.0
247 3-methylglutaconic aciduria, type iii 10.0
248 retinitis pigmentosa 10.0
249 barth syndrome 10.0
250 aging 10.0
251 branchiootic syndrome 1 10.0
252 meningioma, radiation-induced 10.0
253 meningioma, familial 10.0
254 patent ductus arteriosus 1 10.0
255 anxiety 10.0
256 cyanosis, transient neonatal 10.0
257 muscle hypertrophy 10.0
258 hyperprolactinemia 10.0
259 asperger syndrome 10.0
260 multinodular goiter 10.0
261 androgenic alopecia 10.0
262 pain agnosia 10.0
263 basal ganglia calcification 10.0
264 congenital fiber-type disproportion 10.0
265 non-alcoholic steatohepatitis 10.0
266 sensorineural hearing loss 10.0
267 neuroretinitis 10.0
268 monocular esotropia 10.0
269 lymphocytic leukemia 10.0
270 pre-eclampsia 10.0
271 rickets 10.0
272 portal hypertension 10.0
273 microcephaly 10.0
274 corneal edema 10.0
275 placenta praevia 10.0
276 neonatal respiratory failure 10.0
277 hypoparathyroidism 10.0
278 spinal meningioma 10.0
279 mitral valve insufficiency 10.0
280 autonomic neuropathy 10.0
281 emery-dreifuss muscular dystrophy 10.0
282 neutropenia 10.0
283 secondary hyperparathyroidism 10.0
284 chronic progressive external ophthalmoplegia 10.0
285 locked-in syndrome 10.0
286 quadriplegia 10.0
287 eclampsia 10.0
288 selective igg deficiency disease 10.0
289 oligospermia 10.0
290 gonadal dysgenesis 10.0
291 centronuclear myopathy 10.0
292 avoidant personality disorder 10.0
293 keratosis 10.0
294 islet cell tumor 10.0
295 epilepsy 10.0
296 larynx cancer 10.0
297 endometriosis 10.0
298 testicular cancer 10.0
299 lipid metabolism disorder 10.0
300 gastric dilatation 10.0
301 skin carcinoma 10.0
302 retinitis 10.0
303 insulinoma 10.0
304 heart valve disease 10.0
305 liver disease 10.0
306 secretory meningioma 10.0
307 lymphoplasmacyte-rich meningioma 10.0
308 familial retinoblastoma 10.0
309 postpoliomyelitis syndrome 10.0
310 poliomyelitis 10.0
311 pancreatitis 10.0
312 liver cirrhosis 10.0
313 ovarian cyst 10.0
314 hemangioblastoma 10.0
315 paraplegia 10.0
316 lymphopenia 10.0
317 macular holes 10.0
318 chronic kidney disease 10.0
319 seborrheic dermatitis 10.0
320 achalasia 10.0
321 refractive error 10.0
322 esotropia 10.0
323 dystrophinopathies 10.0
324 48,xyyy 10.0
325 chromosomal triplication 10.0
326 chronic intestinal pseudoobstruction 10.0
327 immunoglobulin g deficiency 10.0
328 pure autonomic failure 10.0
329 chronic pain 10.0
330 fainting 10.0
331 headache 10.0
332 myoclonus 10.0
333 thomsen's myotonia 10.0
334 tremor 10.0
335 progeroid syndrome 10.0
336 specific language disorder 10.0
337 overgrowth syndrome 10.0
338 myopathy of extraocular muscle 10.0 MBNL1 DMPK CELF1
339 spinocerebellar ataxia 10 10.0 DMPK CNBP
340 branchiootorenal syndrome 2 9.9 SIX5 LOC107075317 DM1-AS
341 branchiootorenal syndrome 9.9 SIX5 LOC107075317 DM1-AS
342 acanthosis nigricans 9.9
343 neurofibromatosis, type ii 9.9
344 adie pupil 9.9
345 alcohol dependence 9.9
346 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality 9.9
347 spondyloarthropathy 1 9.9
348 alopecia, androgenetic, 1 9.9
349 basal cell nevus syndrome 9.9
350 candidiasis, familial, 1 9.9
351 central core disease of muscle 9.9
352 charcot-marie-tooth disease, demyelinating, type 1a 9.9
353 cone-rod dystrophy 2 9.9
354 erythermalgia, primary 9.9
355 esophageal cancer 9.9
356 renal cell carcinoma, nonpapillary 9.9
357 hyperostosis frontalis interna 9.9
358 malignant hyperthermia 1 9.9
359 klippel-trenaunay-weber syndrome 9.9
360 leukemia, chronic lymphocytic 9.9
361 lipomatosis, multiple 9.9
362 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.9
363 mitral valve prolapse 1 9.9
364 myotonia congenita, autosomal dominant 9.9
365 neurofibromatosis, type i 9.9
366 cyclic neutropenia 9.9
367 ovarian cancer 9.9
368 papillomatosis, confluent and reticulated 9.9
369 parkinson disease, late-onset 9.9
370 polycystic kidney disease 1 with or without polycystic liver disease 9.9
371 polykaryocytosis inducer 9.9
372 porphyria, acute intermittent 9.9
373 prader-willi syndrome 9.9
374 hutchinson-gilford progeria syndrome 9.9
375 reticular dystrophy of retinal pigment epithelium 9.9
376 spinocerebellar ataxia 6 9.9
377 stiff-person syndrome 9.9
378 thrombophilia due to thrombin defect 9.9
379 thyroid cancer, nonmedullary, 1 9.9
380 arachnoid cysts, intracranial 9.9
381 chordoma 9.9
382 corneal endothelial dystrophy 9.9
383 cryptorchidism, unilateral or bilateral 9.9
384 cystic fibrosis 9.9
385 cystinuria 9.9
386 glycogen storage disease ii 9.9
387 lymphoma, hodgkin, classic 9.9
388 lambert syndrome 9.9
389 muscular dystrophy, limb-girdle, autosomal recessive 1 9.9
390 mycosis fungoides 9.9
391 myxedema 9.9
392 ocular motor apraxia 9.9
393 persistent mullerian duct syndrome, types i and ii 9.9
394 phenylketonuria 9.9
395 pili torti, early-onset 9.9
396 abnormal hair, joint laxity, and developmental delay 9.9
397 pituitary hormone deficiency, combined, 2 9.9
398 sudden infant death syndrome 9.9
399 graves disease 1 9.9
400 werner syndrome 9.9
401 body mass index quantitative trait locus 11 9.9
402 fragile x tremor/ataxia syndrome 9.9
403 wiskott-aldrich syndrome 9.9
404 charcot-marie-tooth disease, x-linked dominant, 1 9.9
405 premature ovarian failure 1 9.9
406 gonadoblastoma 9.9
407 frontotemporal dementia 9.9
408 epilepsy, idiopathic generalized 9.9
409 gallbladder disease 1 9.9
410 supranuclear palsy, progressive, 1 9.9
411 stroke, ischemic 9.9
412 body mass index quantitative trait locus 9 9.9
413 astigmatism 9.9
414 body mass index quantitative trait locus 8 9.9
415 aceruloplasminemia 9.9
416 lymphoma, non-hodgkin, familial 9.9
417 rippling muscle disease 2 9.9
418 resting heart rate, variation in 9.9
419 body mass index quantitative trait locus 4 9.9
420 body mass index quantitative trait locus 10 9.9
421 amyotrophic lateral sclerosis 7 9.9
422 body mass index quantitative trait locus 7 9.9
423 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.9
424 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.9
425 human immunodeficiency virus type 1 9.9
426 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.9
427 body mass index quantitative trait locus 12 9.9
428 body mass index quantitative trait locus 14 9.9
429 leukemia, acute lymphoblastic 9.9
430 peripartum cardiomyopathy 9.9
431 body mass index quantitative trait locus 18 9.9
432 seizures, scoliosis, and macrocephaly/microcephaly syndrome 9.9
433 body mass index quantitative trait locus 19 9.9
434 cardiac-urogenital syndrome 9.9
435 body mass index quantitative trait locus 20 9.9
436 peripheral vascular disease 9.9
437 hypophosphatemia 9.9
438 arrhythmogenic right ventricular cardiomyopathy 9.9
439 exanthem 9.9
440 persistent mullerian duct syndrome 9.9
441 sexual disorder 9.9
442 alexithymia 9.9
443 anosognosia 9.9
444 apraxia 9.9
445 lung abscess 9.9
446 3-methylglutaconic aciduria 9.9
447 non-alcoholic fatty liver disease 9.9
448 autosomal recessive limb-girdle muscular dystrophy 9.9
449 hyaline body myopathy 9.9
450 pleomorphic lipoma 9.9
451 blepharophimosis 9.9
452 suppression amblyopia 9.9
453 amblyopia 9.9
454 gastric lymphoma 9.9
455 protein-losing enteropathy 9.9
456 schizotypal personality disorder 9.9
457 chronic pyelonephritis 9.9
458 meningocele 9.9
459 paranoid personality disorder 9.9
460 asphyxia neonatorum 9.9
461 anhidrosis 9.9
462 arteriovenous malformation 9.9
463 erysipelas 9.9
464 pulmonary edema 9.9
465 pyelonephritis 9.9
466 xanthogranulomatous pyelonephritis 9.9
467 hemopericardium 9.9
468 horner's syndrome 9.9
469 diabetic autonomic neuropathy 9.9
470 infant gynecomastia 9.9
471 pericardial effusion 9.9
472 myopia 9.9
473 panuveitis 9.9
474 allergic hypersensitivity disease 9.9
475 inflammatory spondylopathy 9.9
476 oligohydramnios 9.9
477 leukemia 9.9
478 secondary hyperparathyroidism of renal origin 9.9
479 hepatic coma 9.9
480 gynecomastia 9.9
481 keratoconjunctivitis sicca 9.9
482 endomyocardial fibrosis 9.9
483 dementia 9.9
484 hellp syndrome 9.9
485 acute cystitis 9.9
486 brain cancer 9.9
487 porphyria 9.9
488 hyperinsulinemic hypoglycemia 9.9
489 hepatic encephalopathy 9.9
490 beriberi 9.9
491 facial paralysis 9.9
492 rubeosis iridis 9.9
493 neonatal myasthenia gravis 9.9
494 toxic shock syndrome 9.9
495 papilledema 9.9
496 communicating hydrocephalus 9.9
497 alcohol use disorder 9.9
498 mental depression 9.9
499 breast fibroadenoma 9.9
500 neuroendocrine tumor 9.9
501 vascular disease 9.9
502 cholecystitis 9.9
503 exostosis 9.9
504 focal epilepsy 9.9
505 ankylosis 9.9
506 hidradenitis suppurativa 9.9
507 hidradenitis 9.9
508 keratopathy 9.9
509 gastroenteritis 9.9
510 craniosynostosis 9.9
511 arteriosclerosis 9.9
512 psychotic disorder 9.9
513 hemangioma 9.9
514 cystadenoma 9.9
515 phimosis 9.9
516 glycogen storage disease 9.9
517 long qt syndrome 9.9
518 acute pancreatitis 9.9
519 astrocytoma 9.9
520 oligodendroglioma 9.9
521 aspiration pneumonitis 9.9
522 rhabdomyosarcoma 9.9
523 ischemia 9.9
524 encapsulated thymoma 9.9
525 teratoma 9.9
526 central nervous system disease 9.9
527 temporal lobe epilepsy 9.9
528 systemic mastocytosis 9.9
529 mastocytosis 9.9
530 intermittent claudication 9.9
531 skin disease 9.9
532 protein c deficiency 9.9
533 lynch syndrome 9.9
534 thyroid gland papillary carcinoma 9.9
535 restrictive cardiomyopathy 9.9
536 gastritis 9.9
537 tricuspid valve insufficiency 9.9
538 gait apraxia 9.9
539 intracranial embolism 9.9
540 myofibroma 9.9
541 dyslexia 9.9
542 pleomorphic adenoma 9.9
543 placenta accreta 9.9
544 aggressive systemic mastocytosis 9.9
545 thyroid gland disease 9.9
546 adjustment disorder 9.9
547 arteriosclerosis obliterans 9.9
548 demyelinating polyneuropathy 9.9
549 kidney disease 9.9
550 aortic valve insufficiency 9.9
551 ovarian serous cystadenocarcinoma 9.9
552 severe combined immunodeficiency 9.9
553 double outlet right ventricle 9.9
554 spondylitis 9.9
555 cerebrovascular disease 9.9
556 mitochondrial metabolism disease 9.9
557 axonal neuropathy 9.9
558 delusional disorder 9.9
559 retinal degeneration 9.9
560 fundus dystrophy 9.9
561 nervous system disease 9.9
562 chickenpox 9.9
563 lupus erythematosus 9.9
564 neuromyelitis optica 9.9
565 mitochondrial encephalomyopathy 9.9
566 progressive myoclonus epilepsy 9.9
567 rem sleep behavior disorder 9.9
568 amyloidosis 9.9
569 speech disorder 9.9
570 keratoconjunctivitis 9.9
571 hypopituitarism 9.9
572 blepharitis 9.9
573 fatty liver disease 9.9
574 neurofibroma 9.9
575 senile cataract 9.9
576 muscular dystrophy, duchenne and becker type 9.9
577 collagen type vi-related disorders 9.9
578 dysferlinopathy 9.9
579 kcnk9 imprinting syndrome 9.9
580 lama2-related muscular dystrophy 9.9
581 malignant hyperthermia susceptibility 9.9
582 mitochondrial disorders 9.9
583 47, xxy 9.9
584 basal cell carcinoma, multiple 9.9
585 cardiac rupture 9.9
586 cytokine deficiency 9.9
587 cytoplasmic body myopathy 9.9
588 lymphangiectasis 9.9
589 myoclonus epilepsy 9.9
590 pili torti 9.9
591 polymyositis 9.9
592 primary agammaglobulinemia 9.9
593 semantic dementia 9.9
594 skeletal dysplasias 9.9
595 wallerian degeneration 9.9
596 weber syndrome 9.9
597 raynaud phenomenon 9.9
598 age-related hearing loss 9.9
599 farsightedness 9.9
600 back pain 9.9
601 dementia - subcortical 9.9
602 encephalopathy 9.9
603 foot drop 9.9
604 hypertonia 9.9
605 paresthesia 9.9
606 spinal cord injury 9.9
607 posttransplant acute limbic encephalitis 9.9
608 angioosteohypertrophic syndrome 9.9
609 interatrial communication 9.9
610 idiopathic eosinophilic myositis 9.9
611 qualitative or quantitative defects of dysferlin 9.9
612 temporomandibular joint anomaly 9.9
613 acute sensory ataxic neuropathy 9.9
614 immune hydrops fetalis 9.9
615 transient neonatal myasthenia gravis 9.9
616 inherited retinal disorder 9.9
617 pik3ca-related overgrowth syndrome 9.9
618 laminopathy 9.9
619 metabolic myopathy 9.9
620 spinal and bulbar muscular atrophy, x-linked 1 9.8 MBNL1 DMPK
621 familial periodic paralysis 9.8 CNBP CLCN1
622 lens disease 9.7 MBNL1 DMPK CNBP CELF1
623 x-linked hereditary ataxia 9.4 MBNL2 MBNL1 DMPK CNBP CELF1
624 muscle tissue disease 9.4 MBNL1 DMPK CNBP CLCN1 CELF1

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:

26 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell viability after pRB stimulation GR00230-A-1 8.8 CDC42BPA CDC42BPB DMPK

MGI Mouse Phenotypes related to Myotonic Dystrophy:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 CLCN1 DMPK MBNL1 MBNL2 MBNL3 SIX5

Drugs & Therapeutics for Myotonic Dystrophy

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

(showing 53, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
5
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
6 Dopamine Uptake Inhibitors Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Dopamine Agents Phase 2, Phase 3
9 Sodium Channel Blockers Phase 3
10 Diuretics, Potassium Sparing Phase 3
11 Tranquilizing Agents Phase 3
12 Antipsychotic Agents Phase 3
13 Psychotropic Drugs Phase 3
14 Anticonvulsants Phase 3
15 Calcium, Dietary Phase 3
16 calcium channel blockers Phase 3
17 Central Nervous System Depressants Phase 3
18 Hormones Phase 3
19 Adjuvants, Immunologic Phase 2, Phase 3
20 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
21 Immunologic Factors Phase 2, Phase 3
22
Zinc Approved, Investigational Phase 2 7440-66-6 32051
23
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
24
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
25
Clarithromycin Approved Phase 2 81103-11-9 84029
26 Hypoglycemic Agents Phase 2
27 Complement Factor I Phase 2
28 Anti-Arrhythmia Agents Phase 2
29 Mitogens Phase 1, Phase 2
30 insulin Phase 1, Phase 2
31 Insulin, Globin Zinc Phase 1, Phase 2
32 Anti-Infective Agents Phase 2
33 Cytochrome P-450 CYP3A Inhibitors Phase 2
34 Cytochrome P-450 Enzyme Inhibitors Phase 2
35 Anti-Bacterial Agents Phase 2
36 Antibiotics, Antitubercular Phase 2
37
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959
38
Modafinil Approved, Investigational 68693-11-8 4236
39
Fibrinolysin Investigational 9004-09-5
40 Plasminogen Activator Inhibitor 1
41 Hemostatics
42 Liver Extracts
43 Plasminogen Inactivators
44 Lupus Coagulation Inhibitor
45 alpha-2-Antiplasmin
46 Anticoagulants
47 Plasminogen
48 Coagulants
49 Pigment epithelium-derived factor
50 Antifibrinolytic Agents
51 Cola
52 Central Nervous System Stimulants
53 Cytochrome P-450 CYP3A Inducers

Interventional clinical trials:

(showing 58, show less)
# Name Status NCT ID Phase Drugs
1 Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1) Unknown status NCT00127582 Phase 3
2 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Unknown status NCT01225614 Phase 3
3 Phase 2/3 Study of Efficacy and Tolerability of Methylphenidate in the Treatment of Excessive Daytime Sleepiness in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
4 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
5 Phase 3 Study of Oral Dehydroepiandrosterone (DHEA) in Adults With Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
6 A Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Tideglusib Versus Placebo for the Treatment of Children and Adolescents With Congenital Myotonic Dystrophy Not yet recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
7 A Placebo Controlled, Randomized, Double-Blind Phase II Clinical Trial to Evaluate Tolerability, Safety and Efficacy Endpoints After Administration of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) for 24 Weeks in Adults With Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
8 A Single-Blind, Phase 2 Study To Evaluate The Safety And Efficacy Of Tideglusib 400mg Or 1000mg For The Treatment Of Adolescent And Adult Congenital And Juvenile-Onset Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
9 A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1) Completed NCT01406873 Phase 2 Mexiletine;Placebo
10 A Phase 1/2a Blinded, Placebo-Controlled Study to Assess the Safety, Tolerability, and Dose-range Finding of Multiple Ascending Doses of ISIS 598769 Administered Subcutaneously to Adult Patients With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2 IONIS-DMPKRx;Placebo
11 Effects of SomatoKine (Iplex) (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2 SomatoKine/IPLEX
12 Antibiotic-mediated Improvements in Vigilance: Mechanisms of Action of Clarithromycin in Hypersomnia Syndromes Recruiting NCT04026958 Phase 2 Clarithromycin;Placebo
13 Intramuscular Transplantation of Autologous Muscle Derived Stem Cell(MDSC) and Adipose Derived Mesenchymal Stem Cells (AD-MSC) in Patients With Facioscapulohumeral Dystrophy (FSHD), Phase I Clinical Trial Unknown status NCT02208713 Phase 1
14 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation to Manage or Treat Muscular Dystrophies. Unknown status NCT00674843 Phase 1
15 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
16 Double-Blind, Placebo-Controlled, Dose-Range-Finding, Crossover Trial of Single Day Administration of ERX-963 in Adults With Myotonic Dystrophy Type 1 Recruiting NCT03959189 Phase 1 ERX-963;Placebo
17 Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica Unknown status NCT02708784
18 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Unknown status NCT02375087
19 Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy Unknown status NCT02269865
20 Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes Unknown status NCT00745238
21 Validation of a German Language Screening Questionnaire for Symptoms of Respiratory Muscle Weakness and Sleep-disordered Breathing in Patients With Neuromuscular Disorders Unknown status NCT02833168
22 NON-INVASIVE PRENATAL TESTING (NIPT) OF FETAL SINGLE-GENE DISORDERS IN MATERNAL BLOOD Unknown status NCT02339402
23 Effects of a 12-week Strength Training Program in Men With Myotonic Dystrophy Type 1 Completed NCT04018820
24 Effects of a Multiple Component Training Program on Muscles, Maximal Muscle Strength, Endurance and Functional Performance in Adults With Myotonic Dystrophy Type 1: A Pilot Study Completed NCT04001920
25 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
26 Cardiac and Respiratory Prognostic Factors in Patients With Myotonic Dystrophy Type 1 Completed NCT01136330
27 A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1 Completed NCT02308657
28 Prospective Randomized Controlled Single Blind Study of Efficacy and Tolerance of AVAPS Mode Compared to Bilevel Pressure Ventilation un Adult Patients With Myotonic Dystrophy Completed NCT01530841
29 Incidence and Predictors of Venous Thromboembolism in Myotonic Dystrophy Completed NCT03141749
30 Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life Completed NCT03589677
31 Myotonic Dystrophy:Muscle Wasting and Altered Metabolism Completed NCT00004769
32 Lung Function Impairment and Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007
33 A Registry of Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
34 Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration Completed NCT02118779
35 Pulmonary Hypertension--Mechanisms and Family Registry Completed NCT00005357
36 Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Recruiting NCT03981575
37 The UK National Registry for Myotonic Dystrophy Recruiting NCT04003363
38 Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1 Recruiting NCT02880735
39 The Electrophysiological Study Guided ICD Strategy in Prevention of Arrhythmic Cardiac Death in Myotonic Dystrophy Type 1 Patients With Conduction System Disease (ACADEMY 1 Study) Recruiting NCT03784586
40 Venous Thromboembolism in Myotonic Dystrophy Type 1 Recruiting NCT03424460
41 Functional and Cellular Benefits of Aerobic Exercise in Myotonic Dystrophy Type 1 Patients Recruiting NCT04187482
42 Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years Recruiting NCT03764150
43 Myotonic Dystrophy Family Registry Recruiting NCT02398786
44 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
45 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108
46 Assessing Clinical Endpoint and Biomarkers in Myotonic Dystrophy Type-1 and Type-2 Recruiting NCT03867435
47 Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures Recruiting NCT03603171
48 A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives Recruiting NCT01931644
49 Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases Recruiting NCT03087526
50 Myotonic Dystrophy Type 1 (DM1) Deep Phenotyping to Improve Delivery of Personalized Medicine and Assist in the Planning, Design and Recruitment of Clinical Trials Active, not recruiting NCT02831504
51 Muscle Relaxation Properties in Myopathies With Positive Muscle Phenomena: a Study Using Transcranial Magnetic Stimulation Enrolling by invitation NCT03211923
52 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome) Enrolling by invitation NCT02413450
53 DM-IMT - Controlled, Randomized, Three-arm Intervention Study on the Safety and Efficacy of Regular Respiratory Muscle Training in Patients With Myotonic Dystrophy Type 1 Not yet recruiting NCT04052958
54 Compare Train and 3D-4D Left Ventricular Systolic Function in Subjects Suffering From Dystrophy and Healthy Subjects Terminated NCT02930408
55 Development of New Prenatal Diagnostic Tests From Maternal Blood Terminated NCT00314691
56 European Home Mechanical Ventilation Registry Terminated NCT02315339
57 Pilot and Feasibility Study of Modafinil Treatment to Improve Cognitive Efficiency in SLE Patients Terminated NCT00297284 Modafinil
58 Identity Development in Youth With Neuromuscular Diseases: A Clinically Relevant But Forgotten Issue in the Transition to Adulthood Withdrawn NCT03775135

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 29

Anatomical Context for Myotonic Dystrophy

MalaCards organs/tissues related to Myotonic Dystrophy:

40
Heart, Testes, Skeletal Muscle, Brain, Eye, Thyroid, Liver

Publications for Myotonic Dystrophy

Articles related to Myotonic Dystrophy:

(showing 5159, show less)
# Title Authors PMID Year
1
Myotonic dystrophy: candidate small molecule therapeutics. 61 52
28780071 2017
2
Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9. 61 52
28803727 2017
3
Proteome profile in Myotonic Dystrophy type 2 myotubes reveals dysfunction in protein processing and mitochondrial pathways. 54 61
20138216 2010
4
Human MRCKalpha is regulated by cellular iron levels and interferes with transferrin iron uptake. 54 61
20188707 2010
5
Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function. 54 61
20406734 2010
6
Molecular aptamer beacon for myotonic dystrophy kinase-related Cdc42-binding kinase alpha. 54 61
20188990 2010
7
Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. 54 61
20051426 2010
8
Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy. 54 61
20074967 2010
9
Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy. 54 61
20360842 2010
10
CCUG repeats reduce the rate of global protein synthesis in myotonic dystrophy type 2. 54 61
20458885 2010
11
MT1-MMP- and Cdc42-dependent signaling co-regulate cell invasion and tunnel formation in 3D collagen matrices. 54 61
19934222 2009
12
Pathogenic mechanisms of myotonic dystrophy. 54 61
19909263 2009
13
A tail-anchored myotonic dystrophy protein kinase isoform induces perinuclear clustering of mitochondria, autophagy, and apoptosis. 54 61
19946639 2009
14
RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study. 54 61
19864209 2009
15
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. 54 61
19184181 2009
16
High-fat diet induced adiposity and insulin resistance in mice lacking the myotonic dystrophy protein kinase. 54 61
19482024 2009
17
Model for alternative splicing of insulin receptor in myotonic dystrophy type 1. 54 61
19902080 2009
18
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2. 54 61
19345584 2009
19
Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies. 54 61
19683984 2009
20
Analysis of repetitive regions in myotonic dystrophy type 1 and 2. 54 61
19360700 2009
21
A Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG) x (CAGG) repeat. 54 61
19218442 2009
22
Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling. 54 61
19131108 2009
23
Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia. 54 61
19208413 2009
24
[MyoD mRNA expression in skeletal muscle of patients with myotonic dystrophy]. 54 61
19567095 2009
25
Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. 54 61
19095965 2009
26
Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion. 54 61
18804219 2008
27
Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients. 54 61
19472917 2008
28
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. 54 61
18807109 2008
29
Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. 54 61
18583094 2008
30
A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1. 54 61
18653337 2008
31
HSPB2/MKBP, a novel and unique member of the small heat-shock protein family. 54 61
18615620 2008
32
Myotonic disorders. 54 61
18974556 2008
33
Characterization of the interaction of phorbol esters with the C1 domain of MRCK (myotonic dystrophy kinase-related Cdc42 binding kinase) alpha/beta. 54 61
18263588 2008
34
Drosophila muscleblind is involved in troponin T alternative splicing and apoptosis. 54 61
18286170 2008
35
Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. 54 61
18057971 2008
36
The hypocretin neurotransmission system in myotonic dystrophy type 1. 54 61
18195268 2008
37
Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms. 54 61
17549748 2008
38
Fibroblast-led collective invasion of carcinoma cells with differing roles for RhoGTPases in leading and following cells. 54 61
18037882 2007
39
Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. 54 61
17728322 2007
40
Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle. 54 61
17661063 2007
41
Role of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin action. 54 61
17987120 2007
42
Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles. 54 61
17825047 2007
43
Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy. 54 61
17487865 2007
44
Regulation of the promoter of CUG triplet repeat binding protein, Cugbp1, during myogenesis. 54 61
17531403 2007
45
Co-operative Cdc42 and Rho signalling mediates ephrinB-triggered endothelial cell retraction. 54 61
17300218 2007
46
Regulation of chloride ion conductance during skeletal muscle development and in disease. Focus on "Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1". 54 61
17215330 2007
47
The nondystrophic myotonias. 54 61
17395134 2007
48
Elevated FMR1 mRNA in premutation carriers is due to increased transcription. 54 61
17283214 2007
49
Myotonic dystrophy: emerging mechanisms for DM1 and DM2. 54 61
16876389 2007
50
Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs. 54 61
17702765 2007
51
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1. 54 61
17204054 2007
52
Sleep disorders in neuromuscular diseases. 54 61
17053488 2006
53
ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I. 54 61
16862542 2006
54
Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. 54 61
16946708 2006
55
A benign congenital myopathy in an inbred Samaritan family. 54 61
16959509 2006
56
MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. 54 61
16723374 2006
57
DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. 54 61
16624843 2006
58
Italian guidelines for molecular analysis in myotonic dystrophies. 54 61
17039977 2006
59
Myotonic dystrophy protein kinase monoclonal antibody generation from a coiled-coil template. 54 61
16680721 2006
60
A novel iron responsive element in the 3'UTR of human MRCKalpha. 54 61
16412980 2006
61
Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). 54 61
16376058 2006
62
Novel regulators of RyR Ca2+ release channels: insight into molecular changes in genetically-linked myopathies. 54 61
16909197 2006
63
[Congenital myotonic dystrophy--the significance of a handshake]. 54 61
16440558 2006
64
Rhabdomyolysis caused by tocolysis with oral ritodrine hydrochloride in a pregnant patient with myotonic dystrophy. 54 61
16192734 2006
65
Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. 54 61
16401743 2006
66
Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. 54 61
16193250 2005
67
Expression and localization of myotonic dystrophy protein kinase in human skeletal muscle cells determined with a novel antibody: possible role of the protein in cytoskeleton rearrangements during differentiation. 54 61
16099181 2005
68
Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. 54 61
15972723 2005
69
Human myotonic dystrophy protein kinase effect in S. cerevisiae. 54 61
15894391 2005
70
Haplotype analysis of the DM1 locus in the Serbian population. 54 61
15740580 2005
71
Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells. 54 61
15722335 2005
72
Cdc42-MRCK and Rho-ROCK signalling cooperate in myosin phosphorylation and cell invasion. 54 61
15723050 2005
73
[Myotonic dystrophy]. 54 61
15773341 2005
74
Myotonic dystrophy protein kinase phosphorylates phospholamban and regulates calcium uptake in cardiomyocyte sarcoplasmic reticulum. 54 61
15598648 2005
75
Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population. 54 61
15652222 2005
76
MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. 54 61
15546872 2005
77
Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy. 54 61
15634230 2005
78
The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions. 54 61
15489504 2005
79
Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells. 54 61
15459182 2004
80
Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy. 54 61
15718211 2004
81
A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2. 54 61
15322428 2004
82
A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. 54 61
15215218 2004
83
Expression of the human myotonic dystrophy kinase-related Cdc42-binding kinase gamma is regulated by promoter DNA methylation and Sp1 binding. 54 61
15194684 2004
84
Intergenerational instability of the expanded CTG repeat in the DMPK gene: studies in human gametes and preimplantation embryos. 54 61
15185171 2004
85
Homozygosity for CCTG mutation in myotonic dystrophy type 2. 54 61
15231584 2004
86
Insulin receptor splicing alteration in myotonic dystrophy type 2. 54 61
15114529 2004
87
[Respiratory system elastance and resistance measured by proportional assist ventilation in patients with respiratory muscle weakness]. 54 61
15287508 2004
88
Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. 54 61
14722059 2004
89
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. 54 61
14666402 2004
90
Real-time RT-PCR for CTG repeat-containing genes. 54 61
15201450 2004
91
The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer. 54 61
14576312 2003
92
Expression and distribution of a small-conductance calcium-activated potassium channel (SK3) protein in skeletal muscles from myotonic muscular dystrophy patients and congenital myotonic mice. 54 61
12875918 2003
93
Alternative splicing controls myotonic dystrophy protein kinase structure, enzymatic activity, and subcellular localization. 54 61
12897125 2003
94
Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinase. 54 61
12832055 2003
95
Decreased hypocretin-1 (Orexin-A) levels in the cerebrospinal fluid of patients with myotonic dystrophy and excessive daytime sleepiness. 54 61
12749547 2003
96
Antagonistic regulation of alpha-actinin alternative splicing by CELF proteins and polypyrimidine tract binding protein. 54 61
12649496 2003
97
A functional deadenylation assay identifies human CUG-BP as a deadenylation factor. 54 61
12799066 2003
98
Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. 54 61
12598332 2003
99
The sperm outer dense fiber protein is the 10th member of the superfamily of mammalian small stress proteins. 54 61
12820655 2003
100
Genomic organization of human myotonic dystrophy kinase-related Cdc42-binding kinase alpha reveals multiple alternative splicing and functional diversity. 54 61
12568720 2003
101
[Methods of determination of the number of CTG/CAG repeats in trinucleotide repeats in the human genome]. 54 61
14635426 2003
102
The pleiotropic expression of the myotonic dystrophy protein kinase gene illustrates the complex relationships between genetic, biological and clinical covariates of male aging. 54 61
12630069 2002
103
Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene. 54 61
12397222 2002
104
Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1. 54 61
12325072 2002
105
Myotonic dystrophy protein kinase of the cardiac muscle: evaluation using an immunochemical approach. 54 61
12226810 2002
106
Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1. 54 61
11978764 2002
107
Cdc42 antagonizes inductive action of cAMP on cell shape, via effects of the myotonic dystrophy kinase-related Cdc42-binding kinase (MRCK) on myosin light chain phosphorylation. 54 61
12018391 2002
108
Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. 54 61
11809728 2002
109
Stapedial reflex in myotonic dystrophy type 1 and CTG repeat expansion. 54 61
12013582 2001
110
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. 54 61
11726559 2001
111
Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts. 54 61
11595515 2001
112
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. 54 61
11590131 2001
113
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. 54 61
11528389 2001
114
Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers. 54 61
11527424 2001
115
Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. 54 61
11592825 2001
116
Skeletal muscle Na currents in mice heterozygous for Six5 deficiency. 54 61
11526199 2001
117
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. 54 61
11486088 2001
118
Drosophila homolog of the myotonic dystrophy-associated gene, SIX5, is required for muscle and gonad development. 54 61
11470409 2001
119
Phosphorylation of a novel myosin binding subunit of protein phosphatase 1 reveals a conserved mechanism in the regulation of actin cytoskeleton. 54 61
11399775 2001
120
Activation of LIM kinases by myotonic dystrophy kinase-related Cdc42-binding kinase alpha. 54 61
11340065 2001
121
[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene]. 54 61
11412718 2001
122
Intermolecular and intramolecular interactions regulate catalytic activity of myotonic dystrophy kinase-related Cdc42-binding kinase alpha. 54 61
11283256 2001
123
RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. 54 61
11124939 2001
124
Myotonic dystrophy protein kinase (DMPK) gene expression in lymphocytes of patients with myotonic dystrophy. 54 61
11343809 2001
125
Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity. 54 61
11287000 2001
126
Developmental expression of myotonic dystrophy protein kinase in brain and its relevance to clinical phenotype. 54 61
11045673 2000
127
Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart. 54 61
10958655 2000
128
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. 54 61
10970838 2000
129
Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. 54 61
11001935 2000
130
Reduced expression of DMAHP/SIX5 gene in myotonic dystrophy muscle. 54 61
10951446 2000
131
Phosphorylation of ERM proteins at filopodia induced by Cdc42. 54 61
10947843 2000
132
Phospholemman is a substrate for myotonic dystrophy protein kinase. 54 61
10811636 2000
133
Myotonic dystrophy protein kinase domains mediate localization, oligomerization, novel catalytic activity, and autoinhibition. 54 61
10913253 2000
134
Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios. 54 61
10911990 2000
135
Progressive atrioventricular conduction block in a mouse myotonic dystrophy model. 54 61
10936001 2000
136
Rac-1 and Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase. 54 61
10869570 2000
137
Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. 54 61
10802667 2000
138
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. 54 61
10767343 2000
139
Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties. 54 61
10699184 2000
140
Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy. 54 61
10733240 2000
141
Myotonic dystrophy and myotonic dystrophy protein kinase. 54 61
11064921 2000
142
ETR-1, a homologue of a protein linked to myotonic dystrophy, is essential for muscle development in Caenorhabditis elegans. 54 61
10556089 1999
143
The COOH terminus of Rho-kinase negatively regulates rho-kinase activity. 54 61
10542285 1999
144
Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein. 54 61
10446244 1999
145
Elongation of (CTG)n repeats in myotonic dystrophy protein kinase gene in tumors associated with myotonic dystrophy patients. 54 61
10454725 1999
146
Overexpression of myotonic dystrophy protein kinase in C2C12 myogenic culture involved in the expression of ferritin heavy chain and interleukin-1alpha mRNAs. 54 61
10500258 1999
147
Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels. 54 61
10332037 1999
148
Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients. 54 61
10399747 1999
149
Microtubule-associated protein tau, heparan sulphate and alpha-synuclein in several neurodegenerative diseases with dementia. 54 61
10378377 1999
150
[Effect on gene expression of the expanded CTG repeat on 3'-untranslated region of myotonic dystrophy (DM) protein kinase]. 54 61
10222793 1999
151
Lens epithelial changes and mutated gene expression in patients with myotonic dystrophy. 54 61
10434869 1999
152
Myotonic dystrophy protein kinase expressed in rat cardiac muscle is associated with sarcoplasmic reticulum and gap junctions. 54 61
10026240 1999
153
Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. 54 61
9949207 1999
154
Transient up-regulation of myotonic dystrophy protein kinase-binding protein, MKBP, and HSP27 in the neonatal myocardium. 54 61
10355872 1999
155
DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. 54 61
10021468 1999
156
Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy. 54 61
9887331 1999
157
Decreased expression of myotonic dystrophy protein kinase and disorganization of sarcoplasmic reticulum in skeletal muscle of myotonic dystrophy. 54 61
10064167 1999
158
Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies. 54 61
9811941 1998
159
Expanding complexity in myotonic dystrophy. 54 61
9872056 1998
160
[Somatic mosaicism of p(CTG)n expansion in a case of myotonic dystrophy with parotid tumor]. 54 61
9916519 1998
161
Developmental regulation of myotonic dystrophy protein kinase in human muscle cells in vitro. 54 61
9607721 1998
162
A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy. 54 61
9836067 1998
163
Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes. 54 61
9610417 1998
164
Definition of regulatory sequence elements in the promoter region and the first intron of the myotonic dystrophy protein kinase gene. 54 61
9535904 1998
165
Immunolocalization of myotonic dystrophy protein kinase in corbular and junctional sarcoplasmic reticulum of human cardiac muscle. 54 61
9610815 1998
166
MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. 54 61
9490724 1998
167
The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. 54 61
9463318 1998
168
Fluorescence in situ hybridization analysis of the replication properties of the myotonic dystrophy protein kinase (DMPK) gene region. 54 61
9858828 1998
169
EDEN and EDEN-BP, a cis element and an associated factor that mediate sequence-specific mRNA deadenylation in Xenopus embryos. 54 61
9427761 1998
170
[Oligosaccharide abnormalities and expansion of the CTG repeat of MT-PK gene in patients with myotonic dystrophy]. 54 61
9436441 1997
171
[Molecular genetics of myotonic dystrophy--population genetics of the CTG repeat expansion of the MTPK gene]. 54 61
9436437 1997
172
Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. 54 61
9371827 1997
173
Evidence for localization of the myotonic dystrophy protein kinase to the terminal cisternae of the sarcoplasmic reticulum. 54 61
9276336 1997
174
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. 54 61
9241282 1997
175
Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. 54 61
9207101 1997
176
Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. 54 61
9207102 1997
177
Myotonic dystrophy: decreased levels of myotonin protein kinase (Mt-PK) leads to apoptosis in muscle cells. 54 61
9225761 1997
178
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. 54 61
9097959 1997
179
Cloning and chromosomal location of a novel member of the myotonic dystrophy family of protein kinases. 54 61
9092543 1997
180
Novel isoform of myotonin protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle. 54 61
9094985 1997
181
Myotonic dystrophy protein kinase gene expression in skeletal muscle from congenitally affected infants. 54 61
9401107 1997
182
Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)? 54 61
8923304 1996
183
Cloning of the VASP (vasodilator-stimulated phosphoprotein) genes in human and mouse: structure, sequence, and chromosomal localization. 54 61
8812448 1996
184
Specific tau variants in the brains of patients with myotonic dystrophy. 54 61
8797469 1996
185
Nondystrophinopathic muscular dystrophies including myotonic dystrophy. 54 61
8795845 1996
186
A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. 54 61
8784800 1996
187
Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. 54 61
8789448 1996
188
[DNA diagnosis in myotonic dystrophy]. 54 61
8727368 1996
189
Overexpression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype. 54 61
8550617 1996
190
A novel serine/threonine kinase binding the Ras-related RhoA GTPase which translocates the kinase to peripheral membranes. 54 61
7493923 1995
191
[Abnormalities of N-linked oligosaccharide moieties of glycoproteins in patients with myotonic dystrophy]. 54 61
8752438 1995
192
Identification, tissue-specific expression, and subcellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein. 54 61
7657592 1995
193
Expression of myotonic dystrophy protein kinase in biopsied muscles. 54 61
8523032 1995
194
Direct detection of expanded (CAG/CTG) repeats in the myotonin-protein kinase genes of myotonic dystrophy patients using a high-stringency hybridization method. 54 61
7626046 1995
195
Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. 54 61
7590731 1995
196
Gene for progressive familial heart block type I maps to chromosome 19q13. 54 61
7882468 1995
197
[Expansion of triplet repeat and neurodegenerative disorders]. 54 61
7774118 1994
198
Cellular aggregation enhances MyoD-directed skeletal myogenesis in embryonal carcinoma cells. 54 61
7969178 1994
199
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. 54 61
7935525 1994
200
Decreased myotonin-protein kinase in the skeletal and cardiac muscles in myotonic dystrophy. 54 61
7518680 1994
201
Somatic instability of CTG repeat in myotonic dystrophy. 54 61
8255475 1993
202
Myotonic dystrophy kinase is a component of neuromuscular junctions. 54 61
8281152 1993
203
Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. 54 61
8288237 1993
204
Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins. 54 61
8242066 1993
205
Molecular genetics of cardiomyopathies. 54 61
8375803 1993
206
Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle. 54 61
8495213 1993
207
Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population. 54 61
1351033 1992
208
[Application of the polymerase chain reaction technique (PCR) to the molecular diagnosis of myotonic dystrophy]. 54 61
1687310 1991
209
3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations. 54 61
1682233 1991
210
Physical and genetic mapping of a novel chromosome 19 ERCC1 marker showing close linkage with myotonic dystrophy. 54 61
1674498 1991
211
Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms. 54 61
2016086 1991
212
Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers. 54 61
2002492 1991
213
Direct haplotyping by double digestion of PCR-amplified creatine kinase (CKMM): application to myotonic dystrophy diagnosis. 54 61
1980487 1990
214
The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy. 54 61
1971150 1990
215
A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus. 54 61
1971149 1990
216
Binding activity and autophosphorylation of the insulin receptor from patients with myotonic dystrophy. 54 61
2195130 1990
217
Establishment of the mouse chromosome 7 region with homology to the myotonic dystrophy region of human chromosome 19q. 54 61
1970795 1990
218
Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies. 54 61
2320244 1990
219
Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19. 54 61
2300239 1990
220
A 10-year follow-up of a patient affected by myotonic dystrophy type 1 with implantable cardioverter-defibrillator implanted for secondary prevention. 61
31490228 2020
221
Biophysical mechanisms for QRS- and QTc-interval prolongation in mice with cardiac expression of expanded CUG-repeat RNA. 61
31968060 2020
222
Neuromuscular Mimics of Entrapment Neuropathies of Upper Extremities. 61
32020820 2020
223
Maternal Genetic Disorders and Fetal Development. 61
32010984 2020
224
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. 61
32031333 2020
225
Predicting daytime sleepiness and fatigue: a 9-year prospective study in myotonic dystrophy type 1. 61
31673761 2020
226
A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients. 61
31655890 2020
227
Antioxidant imbalance in the erythrocytes of Myotonic dystrophy Type 1 patients. 61
31870660 2020
228
Lower limb muscle magnetic resonance imaging in Chinese patients with myotonic dystrophy type 1. 61
31951783 2020
229
New myotonic dystrophy type 1 mouse model. 61
31953529 2020
230
Myotonic dystrophy type 1 alters muscle twitch properties, spinal reflexes, and perturbation-induced trans-cortical reflexes. 61
31773755 2020
231
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. 61
32029546 2020
232
Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1. 61
31853004 2020
233
A Toxic RNA Catalyzes the Cellular Synthesis of Its Own Inhibitor, Shunting It to Endogenous Decay Pathways. 61
31981476 2020
234
Analysis of Trinucleotide Repeat Stability by Integration at a Chromosomal Ectopic Site. 61
31586345 2020
235
Tracking Expansions of Stable and Threshold Length Trinucleotide Repeat Tracts In Vivo and In Vitro Using Saccharomyces cerevisiae. 61
31586340 2020
236
Experimental System to Study Instability of (CGG)n Repeats in Cultured Mammalian Cells. 61
31586346 2020
237
RNA toxicity in non-coding repeat expansion disorders. 61
31721251 2020
238
In Vitro Synthesis and RNA Structure Probing of CUG Triplet Repeat RNA. 61
31586349 2020
239
Study of expression of genes potentially responsible for reduced fitness in patients with myotonic dystrophy type 1 and identification of new biomarkers of testicular function. 61
31840338 2020
240
CTG expansion in the DMPK gene: semen quality assessment and outcome of Preimplantation Genetic Diagnosis. 61
31996899 2020
241
Congenital Myotonic Dystrophy and Brugada Syndrome: A Report of Two Cases. 61
31915326 2020
242
[Myotonic dystrophy type 1 - a rare cause of bradycardia in the young]. 61
31961442 2020
243
Syndromes associated with multiple pilomatricomas: When should clinicians be concerned? 61
31618803 2020
244
Fast Assays to Detect Interruptions in CTG.CAG Repeat Expansions. 61
31586339 2020
245
FISH Protocol for Myotonic Dystrophy Type 1 Cells. 61
31586350 2020
246
Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care Setting. 61
31931688 2020
247
DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. 61
31936870 2020
248
[Study of care practices for patients with myotonic dystrophy in Japan-Nationwide patient survey]. 61
31956156 2020
249
Structure-Specific Cleavage of an RNA Repeat Expansion with a Dimeric Small Molecule Is Advantageous over Sequence-Specific Recognition by an Oligonucleotide. 61
31927948 2020
250
Achalasia in a Patient with Myotonic Dystrophy. 61
31511482 2020
251
Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study. 61
31808320 2020
252
[Study of medical practices for patients with myotonic dystrophy in Japan-Nationwide specialist survey]. 61
31956155 2020
253
Editors' note: A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. 61
31959686 2020
254
Reader response: A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. 61
31959687 2020
255
Author response: A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. 61
31959688 2020
256
Patient Input to Inform the Development of Central Nervous System Outcome Measures in Myotonic Dystrophy. 61
31970692 2020
257
AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1. 61
31965181 2020
258
A study of the impact of DNA helical rise on protein-DNA interaction. 61
30453062 2019
259
Response to the letter to editor about "Affective symptoms and apathy in myotonic dystrophy type 1 a systematic review and meta-analysis". 61
31609230 2019
260
Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region. 61
31791368 2019
261
Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations. 61
31471688 2019
262
Strength training and aerobic exercise training for muscle disease. 61
31808555 2019
263
Comparison of Usefulness of Cardiac Resynchronization Therapy in Patients With Type 1 Myotonic Dystrophy With Versus Without Left Bundle Branch Block. 61
31586533 2019
264
Systemic Evaluation of Chimeric LNA/2'OMe Steric Blockers for Myotonic Dystrophy Type 1 Therapy. 61
31873063 2019
265
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1. 61
31822314 2019
266
SERUM cardiac-specific biomarkers and atrial fibrillation in myotonic dystrophy type I. 61
31579995 2019
267
Myotonic Muscular Dystrophies. 61
31794466 2019
268
Intrinsic Myogenic Potential of Skeletal Muscle-Derived Pericytes from Patients with Myotonic Dystrophy Type 1. 61
31649961 2019
269
Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy. 61
31624084 2019
270
Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models. 61
31754023 2019
271
Endurance exercise leads to beneficial molecular and physiological effects in a mouse model of myotonic dystrophy type 1. 61
31509256 2019
272
Molecular genetics of congenital myotonic dystrophy. 61
31326502 2019
273
Aggressive systemic mastocytosis: a diagnostic challenge in a patient with myotonic dystrophy type 2: a case report. 61
31705184 2019
274
Activities of daily living in myotonic dystrophy type 1. 61
31889295 2019
275
Clinical and genetic characteristics of childhood-onset myotonic dystrophy. 61
31520483 2019
276
Eye involvement in patients with myotonic dystrophy. 61
31899010 2019
277
Letter to editor about "Affective symptoms and apathy in myotonic dystrophy type 1: A systematic review and meta-analysis". 61
31450141 2019
278
Correction of RNA-Binding Protein CUGBP1 and GSK3β Signaling as Therapeutic Approach for Congenital and Adult Myotonic Dystrophy Type 1. 61
31877772 2019
279
Fatigue in myotonic dystrophy type 1: a seven-year prospective study. 61
31970322 2019
280
Understanding factors hampering activities of daily living performance in childhood-onset myotonic dystrophy phenotypes. 61
31840805 2019
281
Straightjacket/α2δ3 deregulation is associated with cardiac conduction defects in myotonic dystrophy type 1. 61
31829940 2019
282
Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy. 61
29987963 2019
283
Repeat-associated RNA structure and aberrant splicing. 61
31323433 2019
284
Assessment of small sensory fiber function in myotonic dystrophy type 1. 61
31443127 2019
285
microRNA dysregulation in neurodegenerative diseases: A systematic review. 61
31356849 2019
286
Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice. 61
31479430 2019
287
Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy. 61
31902642 2019
288
Enhanced serum immunoglobulin G clearance in myotonic dystrophy-associated hypogammaglobulinemia: a case series and review of the literature. 61
31744540 2019
289
Correction of Glycogen Synthase Kinase 3β in Myotonic Dystrophy 1 Reduces the Mutant RNA and Improves Postnatal Survival of DMSXL Mice. 61
31383751 2019
290
Better living through peptide-conjugated chemistry: next-generation antisense oligonucleotides. 61
31566581 2019
291
Dysregulation of calcium metabolism in type 1 myotonic dystrophy. 61
30963668 2019
292
Electrodiagnostic findings in myotonic dystrophy: A study on 12 patients. 61
31871599 2019
293
Characteristics of respiratory muscle involvement in myotonic dystrophy type 1. 61
31839403 2019
294
Ocular findings in patients affected by myotonic dystrophy. 61
31784115 2019
295
Diabetes, metformin and cancer risk in myotonic dystrophy type I. 61
31749144 2019
296
Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping. 61
31759551 2019
297
Spectral domain optical coherence tomography findings in myotonic dystrophy. 61
32005494 2019
298
Look at the cognitive deficits in patients with myotonic dystrophy type 1: an exploratory research on the effects of virtual reality. 61
31851022 2019
299
Overground exoskeletons may boost neuroplasticity in myotonic dystrophy type 1 rehabilitation: A case report. 61
31725606 2019
300
MicroRNA-Based Therapeutic Perspectives in Myotonic Dystrophy. 61
31717488 2019
301
Secondary Achalasia in Myotonic Dystrophy May Have a Different Pathology and Management. 61
31735801 2019
302
Bioactive Aliphatic Polycarbonates Carrying Guanidinium Functions: An Innovative Approach for Myotonic Dystrophy Type 1 Therapy. 61
31720515 2019
303
Affection of the Gastrointestinal Smooth Muscles in Myotonic Dystrophy is not Unusual. 61
31735798 2019
304
miR-7 Restores Phenotypes in Myotonic Dystrophy Muscle Cells by Repressing Hyperactivated Autophagy. 61
31855836 2019
305
Recovery in the Myogenic Program of Congenital Myotonic Dystrophy Myoblasts after Excision of the Expanded (CTG)n Repeat. 61
31766224 2019
306
Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case-control study. 61
31786795 2019
307
Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population-based study. 61
31701525 2019
308
Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study. 61
31376676 2019
309
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype. 61
31608518 2019
310
Recent advances in molecular therapies for neurological disease: triplet repeat disorders. 61
31227833 2019
311
AAV-based gene therapies for the muscular dystrophies. 61
31238336 2019
312
Cognitive and adaptive functioning in congenital and childhood forms of myotonic dystrophy type 1: a longitudinal study. 61
30706460 2019
313
Structure of an RNA helix with pyrimidine mismatches and cross-strand stacking. 61
31584014 2019
314
A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels. 61
31570586 2019
315
A neurodevelopmental approach to myotonic dystrophy type 1. 61
30761521 2019
316
Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell? 61
31385417 2019
317
Patient-reported study of the impact of pediatric-onset myotonic dystrophy. 61
31298737 2019
318
High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study. 61
31540818 2019
319
Author response: Consensus-based care recommendations for adults with myotonic dystrophy type 1. 61
31750020 2019
320
Reader response: Consensus-based care recommendations for adults with myotonic dystrophy type 1. 61
31750021 2019
321
Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1. 61
31750030 2019
322
Myotonic Dystrophy Type 1 Complicated by Colonic Obstruction Due to a Bezoar. 61
31736592 2019
323
Diagnostic Criteria of Left Ventricular Dysfunction in Patients With Myotonic Dystrophy Type 1. 61
31604117 2019
324
Sugammadex is changing the paradigm in neuromuscular blockade in patients with myotonic dystrophy. 61
30888938 2019
325
Benefits of combining prevalent and incident cohorts: An application to myotonic dystrophy. 61
30293502 2019
326
Differences in the pattern of cognitive impairments between juvenile and adult onset myotonic dystrophy type 1. 61
31371188 2019
327
The nuclear concentration required for antisense oligonucleotide activity in myotonic dystrophy cells. 61
31311315 2019
328
RNA-binding protein CELF6 is cell cycle regulated and controls cancer cell proliferation by stabilizing p21. 61
31534127 2019
329
DMPK is a New Candidate Mediator of Tumor Suppressor p53-Dependent Cell Death. 61
31480541 2019
330
Paving the way for a better understanding of the pathophysiology of gait impairment in myotonic dystrophy: a pilot study focusing on muscle networks. 61
31533780 2019
331
Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert's disease: A case of triple dystrophy. 61
31476892 2019
332
[Autoimmune polyglandular disorders in myotonic dystrophy]. 61
31566311 2019
333
RNA sequencing reveals abnormal LDB3 splicing in sudden cardiac death. 61
31419596 2019
334
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. 61
31395669 2019
335
Acute Pancreatitis Associated With Myotonic Dystrophy Type I. 61
31425487 2019
336
Transplantation studies reveal internuclear transfer of toxic RNA in engrafted muscles of myotonic dystrophy 1 mice. 61
31446083 2019
337
[Multiorgan manifestations in myotonic dystrophy type 1]. 61
31495190 2019
338
What is in the Myopathy Literature? 61
31453849 2019
339
An Overview of Circular RNAs and Their Implications in Myotonic Dystrophy. 61
31500099 2019
340
Progressive Decline in Daily and Social Activities: A 9-year Longitudinal Study of Participation in Myotonic Dystrophy Type 1. 61
30831092 2019
341
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. 61
31416449 2019
342
Anesthetic management of a child with congenital Steiner syndrome scheduled for laparoscopic bilateral orchidopexy. 61
31027758 2019
343
Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice. 61
31253581 2019
344
C9orf72 and triplet repeat disorder RNAs: G-quadruplex formation, binding to PRC2 and implications for disease mechanisms. 61
31048495 2019
345
Non-invasive evaluation of the relationship between electrical and structural cardiac abnormalities in patients with myotonic dystrophy type 1. 61
30767060 2019
346
[Analysis of HINT1 gene variant in a case with neuromyotonia and axonal neuropathy]. 61
31400136 2019
347
New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges. 61
31220956 2019
348
Benign tumors in myotonic dystrophy type I target disease-related cancer sites. 61
31402615 2019
349
Association of Sjögren's syndrome with myotonic dystrophy type 1. 61
31466972 2019
350
Body composition in patients with congenital myotonic dystrophy. 61
31074869 2019
351
Mitigating RNA Toxicity in Myotonic Dystrophy using Small Molecules. 61
31426500 2019
352
Analysis of the functional capacity outcome measures for myotonic dystrophy. 61
31402614 2019
353
Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review. 61
30714084 2019
354
Combination Treatment of Erythromycin and Furamidine Provides Additive and Synergistic Rescue of Mis-Splicing in Myotonic Dystrophy Type 1 Models. 61
31485578 2019
355
Prevalence of Left Ventricular Systolic Dysfunction in Myotonic Dystrophy Type 1: A Systematic Review. 61
31415861 2019
356
Training program-induced skeletal muscle adaptations in two men with myotonic dystrophy type 1. 61
31429798 2019
357
Reply to the letter entitled "Predictors of respiratory impairment in patients with myotonic dystrophy type 1". 61
31153591 2019
358
Predictors of respiratory impairment in patients with myotonic dystrophy type 1. 61
31153592 2019
359
Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study. 61
31407859 2019
360
Consensus-based care recommendations for adults with myotonic dystrophy type 2. 61
31583190 2019
361
MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity. 61
30997488 2019
362
Methylphenidate Attenuates the Cognitive and Mood Alterations Observed in Mbnl2 Knockout Mice and Reduces Microglia Overexpression. 61
30060068 2019
363
Myotonic Dystrophy: The "right weapons" to fight the long battle against sudden cardiac death. 61
31320264 2019
364
Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1. 61
30994189 2019
365
CRISPR/Cas Applications in Myotonic Dystrophy: Expanding Opportunities. 61
31357652 2019
366
The prevalence of faecal incontinence in myotonic dystrophy type 1. 61
31266721 2019
367
A Case Report of Myotonic Disease and Gastric Bypass and a Literature Review. 61
31054108 2019
368
White Matter Lesions Detected by Magnetic Resonance Imaging in Neonates and Children With Congenital Myotonic Dystrophy. 61
31005477 2019
369
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. 61
30685181 2019
370
Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy. 61
31323950 2019
371
Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes. 61
31220271 2019
372
DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1. 61
31334355 2019
373
Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test. 61
31164682 2019
374
Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report. 61
31189464 2019
375
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care. 61
31159885 2019
376
Ventricular tachycardia in patients with type 1 myotonic dystrophy: a case series. 61
31449640 2019
377
Brugada syndrome in a young patient with type 1 myotonic dystrophy requiring an implantable cardioverter defibrillator for primary prevention: a case report. 61
31449644 2019
378
Inhospital Complications of Patients With Neuromuscular Disorders Undergoing Total Joint Arthroplasty. 61
30285988 2019
379
MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1. 61
31216018 2019
380
The role of the protein-RNA recognition code in neurodegeneration. 61
30980111 2019
381
A model to predict ventilator requirement in myotonic dystrophy type 1. 61
30895625 2019
382
MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1. 61
31216995 2019
383
Abnormal nuclear aggregation and myotube degeneration in myotonic dystrophy type 1. 61
30891637 2019
384
Multiple pilomatrixomas as a presentation of myotonic dystrophy. 61
30734963 2019
385
Cardiovascular manifestations of myotonic dystrophy. 61
31213350 2019
386
Uncovering health and social care needs among myotonic dystrophy patients: Utility of the Needs and Provisions Complexity Scale. 61
30848487 2019
387
Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI. 61
31118244 2019
388
Letter of response to "Myotonic dystrophy type 1, individualised respiratory care rather than standart prognostication". 61
31029882 2019
389
Non-routine cardiac tests still have no defined role in assessment of myotonic dystrophy type 2. 61
31228022 2019
390
Myotonic Dystrophy type 1, individualised respiratory care rather than standart prognostication. 61
31077949 2019
391
Identification of Kinases Responsible for p53-Dependent Autophagy. 61
31048145 2019
392
Unprecedented hydrophobic stabilizations from a reverse wobble T·T mispair in DNA minidumbbell. 61
31107180 2019
393
Conserved functions of RNA-binding proteins in muscle. 61
30818081 2019
394
Correction to: 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. 61
31122216 2019
395
Coexistence of Progressive Supranuclear Palsy With Pontocerebellar Atrophy and Myotonic Dystrophy Type 1. 61
31216016 2019
396
Regulation of Cdc42 and its effectors in epithelial morphogenesis. 61
31113848 2019
397
The myotonic dystrophy health index: Japanese adaption and validity testing. 61
30681157 2019
398
Affective symptoms and apathy in myotonic dystrophy type 1 a systematic review and meta-analysis. 61
30870776 2019
399
Normalization of frequency-domain parameters of heart rate variability in patients with myotonic dystrophy. 61
30242945 2019
400
Body composition analysis in patients with myotonic dystrophy types 1 and 2. 61
30790082 2019
401
Two Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy. 61
30672388 2019
402
Expanded CUG Repeats Trigger Disease Phenotype and Expression Changes through the RNAi Machinery in C. elegans. 61
30878478 2019
403
Multiple Pilomatricomas: A Retrospective Study and Literature Review. 61
30398984 2019
404
Expanded CUG repeats in DMPK transcripts adopt diverse hairpin conformations without influencing the structure of the flanking sequences. 61
30700578 2019
405
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart. 61
30561649 2019
406
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle. 61
30805745 2019
407
Swallowing dysfunction in patients with nephropathic cystinosis. 61
30685240 2019
408
Massive abscess with prolonged respiratory failure due to newly diagnosed myotonic dystrophy: A case report. 61
31027145 2019
409
Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I. 61
30898523 2019
410
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study. 61
30798109 2019
411
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. 61
31003788 2019
412
Quantitative myotonia assessment with a commercially available dynamometer in myotonic dystrophy types 1 and 2. 61
30575988 2019
413
The myotonic dystrophy experience: a North American cross-sectional study. 61
30677147 2019
414
Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. 61
31010208 2019
415
Disease burden of myotonic dystrophy type 1. 61
30788616 2019
416
Intrinsically cell-penetrating multivalent and multitargeting ligands for myotonic dystrophy type 1. 61
30975744 2019
417
Precise small-molecule cleavage of an r(CUG) repeat expansion in a myotonic dystrophy mouse model. 61
30926669 2019
418
Heart involvement in patients with myotonic dystrophy type 2. 61
30536153 2019
419
Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1. 61
30852496 2019
420
Respiratory dysfunction in myotonic dystrophy type 1: A systematic review. 61
30765255 2019
421
[Palatal myoclonus associated with myotonic dystrophy type 1]. 61
30855713 2019
422
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. 61
30836978 2019
423
Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice. 61
30628727 2019
424
Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes. 61
30730308 2019
425
Vertical relapse after orthodontic and orthognathic surgical treatment in a patient with myotonic dystrophy. 61
30919646 2019
426
Gender difference in clinical conditions among hospitalized adults with myotonic dystrophy. 61
30575975 2019
427
Perceived fatigue in myotonic dystrophy type 1: a case-control study. 61
30922263 2019
428
RARE POMC MUTATION IN A PATIENT WITH MYOTONIC DYSTROPHY TYPE 1 AND ADRENOCORTICOTROPIN HYPERRESPONSE TO CORTICOTROPIN-RELEASING HORMONE. 61
31967018 2019
429
Irreversible Activation of Rho-activated Kinases Resulted from Evolution of Proteolytic Sites within Disordered Regions in Coiled-coil Domain. 61
30517755 2019
430
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. 61
30659139 2019
431
Sleep Complaints, Sleep and Breathing Disorders in Myotonic Dystrophy Type 2. 61
30739220 2019
432
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance. 61
30760283 2019
433
Understanding left ventricular hypertrabeculation/noncompaction: pathomorphologic findings and prognostic impact of neuromuscular comorbidities. 61
30570401 2019
434
[The utility of magnetic resonance imaging of the head for the diagnosis of myotonic dystrophy type 1]. 61
30687920 2019
435
Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1? 61
30615069 2019
436
Reply: Could weight loss contribute to the improved mobility with metformin in patients with myotonic dystrophy type 1? 61
30615109 2019
437
Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1. 61
30304901 2019
438
Cannabis use in myotonic dystrophy patients in Germany and USA: a pilot survey. 61
30552503 2019
439
The CDC42 effector protein MRCKβ autophosphorylates on Threonine 1108. 61
30667325 2019
440
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. 61
31048891 2019
441
Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification. 61
31316546 2019
442
Characterization of Iron Accumulation in Deep Gray Matter in Myotonic Dystrophy Type 1 and 2 Using Quantitative Susceptibility Mapping and R2* Relaxometry: A Magnetic Resonance Imaging Study at 3 Tesla. 61
31920940 2019
443
(CTG)n repeat-mediated dysregulation of MBNL1 and MBNL2 expression during myogenesis in DM1 occurs already at the myoblast stage. 61
31116797 2019
444
Two Adult Siblings With Myotonic Dystrophy Type 1 With Different Phenotypes Presenting With Chronic Respiratory Insufficiency and Sleep Apnea Syndrome. 61
31333559 2019
445
Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest. 61
30484075 2019
446
Twenty-four-hour ambulatory ECG monitoring relevancy in myotonic dystrophy type 1 follow-up: Prognostic value and heart rate variability evolution. 61
30101452 2019
447
µLAS: Sizing of expanded trinucleotide repeats with femtomolar sensitivity in less than 5 minutes. 61
30631115 2019
448
Texture analysis of sonographic muscle images can distinguish myopathic conditions. 61
31656281 2019
449
CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review. 61
30794581 2019
450
Mrc1 and Tof1 prevent fragility and instability at long CAG repeats by their fork stabilizing function. 61
30476303 2019
451
A New View of the T-Loop Junction: Implications for Self-Primed Telomere Extension, Expansion of Disease-Related Nucleotide Repeat Blocks, and Telomere Evolution. 61
31475042 2019
452
Comprehensive investigations are required to manage cardiac disease in myotonic dystrophy 2. 61
30693450 2019
453
A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders. 61
30661069 2019
454
Deprivation of Muscleblind-Like Proteins Causes Deficits in Cortical Neuron Distribution and Morphological Changes in Dendritic Spines and Postsynaptic Densities. 61
31417371 2019
455
Advances in imaging of brain abnormalities in neuromuscular disease. 61
31105770 2019
456
Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries. 61
31681146 2019
457
A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks. 61
31227653 2019
458
Antenatal Indomethacin Treatment for Congenital Myotonic Dystrophy. 61
30906607 2019
459
Health-related quality of life and its correlates in Japanese patients with myotonic dystrophy type 1. 61
30679907 2019
460
Neurophysiological Evidence of Motor Network Reorganization in Myotonic Dystrophy Type 1: A Pilot Magnetoencephalographic Study. 61
30247381 2019
461
Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies. 61
30901379 2019
462
Pluripotent Stem Cell-Based Drug Screening Reveals Cardiac Glycosides as Modulators of Myotonic Dystrophy Type 1. 61
30639849 2019
463
Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1. 61
31795042 2019
464
Intra-Rater Reliability and Concurrent Validity of Quantified Muscle Testing for Maximal Knee Extensors Strength in Men with Myotonic Dystrophy Type 1. 61
31127731 2019
465
Myotonic dystrophy type 1: clinical manifestations in children and adolescents. 61
29871899 2019
466
Structural white matter networks in myotonic dystrophy type 1. 61
30522973 2019
467
Myotonic Dystrophy and Anesthetic Challenges: A Case Report and Review. 61
31016049 2019
468
Global Increase in Circular RNA Levels in Myotonic Dystrophy. 61
31428124 2019
469
Survival patterns and cancer determinants in families with myotonic dystrophy type 1. 61
30051542 2019
470
Insulin Signaling as a Key Moderator in Myotonic Dystrophy Type 1. 61
31849810 2019
471
Caregiver Burden and Related Factors Among Caregivers of Patients with Myotonic Dystrophy Type 1. 61
31640106 2019
472
Correction to: Affinity capillary electrophoresis for identification of active drug candidates in myotonic dystrophy type 1. 61
30443771 2019
473
Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats. 61
31306140 2019
474
TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2. 61
31611837 2019
475
Mir-206 partially rescues myogenesis deficiency by inhibiting CUGBP1 accumulation in the cell models of myotonic dystrophy. 61
30281408 2019
476
Letter to the Editor: Circulating Adult Stem and Progenitor Cells After Roux-en-Y Gastric Bypass Surgery in Myotonic Dystrophy. 61
30417272 2019
477
Consensus-based care recommendations for adults with myotonic dystrophy type 1. 61
30588381 2018
478
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy. 61
30193301 2018
479
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy. 61
30193333 2018
480
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy-Reply. 61
30193376 2018
481
Metabolic impairments in patients with myotonic dystrophy type 2. 61
30944903 2018
482
Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-up. 61
30944906 2018
483
RNA-mediated therapies in myotonic dystrophy. 61
30086404 2018
484
Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion. 61
30984523 2018
485
Accuracy of B-natriuretic peptide for the diagnosis of decompensated heart failure in muscular dystrophies patients with chronic respiratory failure. 61
30687469 2018
486
Repeat-Associated Non-ATG Translation in Neurological Diseases. 61
29891563 2018
487
Dissecting Pathogenetic Mechanisms and Therapeutic Strategies in Drosophila Models of Myotonic Dystrophy Type 1. 61
30567354 2018
488
A Dimeric 2,9-Diamino-1,10-phenanthroline Derivative Improves Alternative Splicing in Myotonic Dystrophy Type 1 Cell and Mouse Models. 61
30302858 2018
489
Non-invasive monitoring of alternative splicing outcomes to identify candidate therapies for myotonic dystrophy type 1. 61
30531949 2018
490
Meet and eat, an interdisciplinary group intervention for patients with myotonic dystrophy about healthy nutrition, meal preparation, and consumption: a feasibility study. 61
30457347 2018
491
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. 61
29967337 2018
492
Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study. 61
29572271 2018
493
Exercise biology of neuromuscular disorders. 61
29944848 2018
494
Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011. 61
30070776 2018
495
Hemangiomas of the tongue and the oral cavity in a myotonic dystrophy type 1 patient: A case report. 61
30508964 2018
496
Cancer Risk in Myotonic Dystrophy Type I: Evidence of a Role for Disease Severity. 61
30556050 2018
497
Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study. 61
30342904 2018
498
Christmas tree cataract and myotonic dystrophy type 1. 61
29988074 2018
499
A Novel Small-Molecule Inhibitor of MRCK Prevents Radiation-Driven Invasion in Glioblastoma. 61
30279244 2018
500
Modified dynamic gait index and limits of stability in myotonic dystrophy type 1. 61
30160307 2018
501
Diastolic heart dysfunction is correlated with CTG repeat length in myotonic dystrophy type 1. 61
30094526 2018
502
Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9. 61
30274788 2018
503
[Retinal involvement in type 1 myotonic dystrophy: Literature review and presentation of a project based on the DM-Scope]. 61
30389178 2018
504
Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1. 61
30270126 2018
505
Diffusion tensor imaging and voxel-based morphometry reveal corticospinal tract involvement in the motor dysfunction of adult-onset myotonic dystrophy type 1. 61
30349069 2018
506
Strategies to Obtain Encapsulation and Controlled Release of Pentamidine in Mesoporous Silica Nanoparticles. 61
30347763 2018
507
Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts. 61
30341284 2018
508
Pharmacological and physiological activation of AMPK improves the spliceopathy in DM1 mouse muscles. 61
29982462 2018
509
CRISPR -Mediated Expression of the Fetal Scn5a Isoform in Adult Mice Causes Conduction Defects and Arrhythmias. 61
30371314 2018
510
Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis. 61
30028904 2018
511
Repeat-associated non-ATG (RAN) translation. 61
30213863 2018
512
Graves' disease and celiac disease in a patient with myotonic dystrophy type 2. 61
30197184 2018
513
Sonographic similarities of inclusion body myositis and myotonic dystrophy. 61
30028511 2018
514
[Innovative therapeutic approaches for hereditary neuromuscular diseases]. 61
30171303 2018
515
Stepping Activity in Children With Congenital Myotonic Dystrophy. 61
30277969 2018
516
Comparative Sleep Disturbances in Myotonic Dystrophy Types 1 and 2. 61
30382420 2018
517
AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1. 61
29748973 2018
518
4',6-Diamidino-2-Phenylindole Distinctly Labels Tau Deposits. 61
30106598 2018
519
Upper Eyelid Blepharoplasty: A Novel Method to Predict and Improve Outcomes. 61
30007317 2018
520
Towards clinical outcome measures in myotonic dystrophy type 2: a systematic review. 61
30048337 2018
521
Myotonic Dystrophies: Targeting Therapies for Multisystem Disease. 61
30341596 2018
522
Commentary on "Stepping Activity in Children With Congenital Myotonic Dystrophy". 61
30277970 2018
523
Generation of induced pluripotent stem cell line(ZZUi006-A)from a patient with myotonic dystrophy type 1. 61
30216892 2018
524
Improved mobility with metformin in patients with myotonic dystrophy type 1: a randomized controlled trial. 61
30169600 2018
525
Developing a one-step triplet-repeat primed PCR assay for diagnosing myotonic dystrophy. 61
30297192 2018
526
Incidence of amplification failure in DMPK allele due to allelic dropout event in a diagnostic laboratory. 61
29803895 2018
527
The MEF2 transcriptional target DMPK induces loss of sarcomere structure and cardiomyopathy. 61
29648621 2018
528
Childhood pilomatricomas: Associated anomalies. 61
29962097 2018
529
Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. 61
30254196 2018
530
Myotonic dystrophy type 1 and pulmonary embolism: successful thrombus resolution with dabigatran etexilate therapy. 61
30838353 2018
531
[Dystrophic and non-dystrophic myotonias]. 61
30248690 2018
532
Is Going Beyond Rasch Analysis Necessary to Assess the Construct Validity of a Motor Function Scale? 61
29625093 2018
533
A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism. 61
30304928 2018
534
Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy. 61
29901230 2018
535
Teaching NeuroImages: Myotonic dystrophy type 1. 61
30249682 2018
536
Oral Management of Steinert's Disease and Role of Anxiolysis. 61
30287721 2018
537
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. 61
30185236 2018
538
Myotonic dystrophytype 1 - report of non-24-h sleep-wake disorder with excessive daytime sleepiness. 61
29764215 2018
539
High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy. 61
30354391 2018
540
Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy. 61
29420722 2018
541
Furamidine Rescues Myotonic Dystrophy Type I Associated Mis-Splicing through Multiple Mechanisms. 61
30118588 2018
542
Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells. 61
29947794 2018
543
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations. 61
30169122 2018
544
R-loops: targets for nuclease cleavage and repeat instability. 61
29327083 2018
545
Mechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1. 61
29771332 2018
546
Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2. 61
29601898 2018
547
White matter hyperintensities in myotonic dystrophy type 2: Not always another expression of the disease. 61
29982108 2018
548
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. 61
29934199 2018
549
Myotonic dystrophy type 1: reasons to be OPTIMISTIC. 61
29934200 2018
550
Recurrence of Gastric Masses in a Neonate with Congenital Myotonic Dystrophy. 61
29383602 2018
551
Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism. 61
29664219 2018
552
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. 61
29524476 2018
553
Alternative splicing analysis in human monocytes and macrophages reveals MBNL1 as major regulator. 61
29771377 2018
554
Recapitulating muscle disease phenotypes with myotonic dystrophy 1 induced pluripotent stem cells: a tool for disease modeling and drug discovery. 61
29898953 2018
555
Reduction of Cellular Nucleic Acid Binding Protein Encoded by a Myotonic Dystrophy Type 2 Gene Causes Muscle Atrophy. 61
29735719 2018
556
A 9-year follow-up study of quantitative muscle strength changes in myotonic dystrophy type 1. 61
29785524 2018
557
Affinity capillary electrophoresis for identification of active drug candidates in myotonic dystrophy type 1. 61
29736701 2018
558
Rhythm management in myotonic dystrophy: Progress has been made, but unsettled issues remain. 61
29625279 2018
559
SCN4A as modifier gene in patients with myotonic dystrophy type 2. 61
30038349 2018
560
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. 61
29955039 2018
561
MRI hydrographic 3D sequences: myotonic dystrophy type 1 meets CADASIL. 61
29116570 2018
562
Left atrial low-voltage zone ablation of persistent atrial fibrillation in a patient with myotonic dystrophy: A case report. 61
29951149 2018
563
Fast Progressing His-Purkinje Conduction Disturbances in a Myotonic Dystrophy Pacient. 61
30069244 2018
564
Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1. 61
30025114 2018
565
miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models. 61
29946070 2018
566
222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016. 61
29550152 2018
567
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). 61
29784710 2018
568
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. 61
30079399 2018
569
Uveal Melanoma Associated With Myotonic Dystrophy: A Report of 6 Cases. 61
29596556 2018
570
Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes. 61
29551391 2018
571
Cognitive impairment and quality of life in patients with myotonic dystrophy type 1. 61
29193182 2018
572
Disruption of sleep-wake continuum in myotonic dystrophy type 1: Beyond conventional sleep staging. 61
29631952 2018
573
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1. 61
29404559 2018
574
Mapping ligand binding pockets in chloride ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid. 61
29500929 2018
575
Bruno-3 regulates sarcomere component expression and contributes to muscle phenotypes of myotonic dystrophy type 1. 61
29716962 2018
576
Is laparoscopic approach for wandering spleen in children an option? 61
29737310 2018
577
The Role of AMPK in Neuromuscular Biology and Disease. 61
29572064 2018
578
Clinical neuropsychology in the management of myotonic dystrophy. 61
29381813 2018
579
Four-repeat tau dominant pathology in a congenital myotonic dystrophy type 1 patient with mental retardation. 61
29740938 2018
580
Speech characteristics in the congenital and childhood-onset forms of myotonic dystrophy type 1. 61
29327796 2018
581
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. 61
29789616 2018
582
Importance of three-dimensional speckle tracking in the assessment of left atrial and ventricular dysfunction in patients with myotonic dystrophy type 1. 61
29650434 2018
583
RNA-Templated Concatenation of Triplet Nucleic-Acid Probe. 61
29323790 2018
584
Sarcolemmal excitability in the myotonic dystrophies. 61
28881011 2018
585
An engineered RNA binding protein with improved splicing regulation. 61
29309648 2018
586
The Frequency and Risk Factors for Ischemic Stroke in Myotonic Dystrophy Type 1 Patients. 61
29306591 2018
587
Interatrial block to predict atrial fibrillation in myotonic dystrophy type 1. 61
29567351 2018
588
Intron retention induced by microsatellite expansions as a disease biomarker. 61
29610297 2018
589
Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy. 61
29441734 2018
590
A CASE OF CONE DYSTROPHY ASSOCIATED WITH CHOROIDAL NEOVASCULARIZATION. 61
27685498 2018
591
Management of pneumatosis intestinalis in children over the age of 6 months: a conservative approach. 61
28988213 2018
592
Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy. 61
29677349 2018
593
Discovery of Potent and Selective MRCK Inhibitors with Therapeutic Effect on Skin Cancer. 61
29382705 2018
594
"Dystrophia Myotonica" and the Legacy of Hans Gustav Wilhelm Steinert. 61
30122835 2018
595
[Clinical and genetic analysis of three pedigrees affected with myotonic dystrophy]. 61
29652986 2018
596
Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy. 61
29651162 2018
597
Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene. 61
29433794 2018
598
Correction of GSK3β at young age prevents muscle pathology in mice with myotonic dystrophy type 1. 61
29203592 2018
599
Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy. 61
29592894 2018
600
Altered levels of the splicing factor muscleblind modifies cerebral cortical function in mouse models of myotonic dystrophy. 61
29331264 2018
601
Bachmann bundle pacing reduces atrial electromechanical delay in type 1 myotonic dystrophy patients. 61
29488106 2018
602
Reader response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. 61
29686123 2018
603
Author response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. 61
29686124 2018
604
French translation and cross-cultural adaptation of The Myotonic Dystrophy Health Index. 61
29053894 2018
605
Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients. 61
29291944 2018
606
Coexistence of Ankylosing Spondylitis and Myotonic Dystrophy: Camptocormia or Thoracic Ankylosis. 61
29465620 2018
607
Myotonic Dystrophy and Developmental Regulation of RNA Processing. 61
29687899 2018
608
Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey. 61
29361394 2018
609
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. 61
29114849 2018
610
Electrophysiological and histopathological findings of muscular disease suspected as myotonic dystrophy in a Shiba dog. 61
29311426 2018
611
Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity? 61
29361396 2018
612
Optical Cross-Sectional Muscle Area Determination of Drosophila Melanogaster Adult Indirect Flight Muscles. 61
29658931 2018
613
Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle α-actin deficiency and eosinophilic myenteric plexitis. 61
29749332 2018
614
Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients. 61
29219952 2018
615
Abnormally invasive placentation in a woman with congenital myotonic dystrophy. 61
29072789 2018
616
Genotype and other determinants of respiratory function in myotonic dystrophy type 1. 61
29398295 2018
617
Design of a "Mini" Nucleic Acid Probe for Cooperative Binding of an RNA-Repeated Transcript Associated with Myotonic Dystrophy Type 1. 61
29334465 2018
618
Responsiveness of performance-based outcome measures for mobility, balance, muscle strength and manual dexterity in adults with myotonic dystrophy type 1. 61
29260836 2018