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1 e diseases, including Huntington disease and myotonic dystrophy.
2 uscle weakness and wasting characteristic of myotonic dystrophy.
3 disease severity and therapeutic response in myotonic dystrophy.
4 facioscapulohumeral muscular dystrophy, and myotonic dystrophy.
5 hogenic feature of the neuromuscular disease myotonic dystrophy.
6 ed and studied with respect to their role in myotonic dystrophy.
7 lular localization is a central component of myotonic dystrophy.
8 g in corrective outcome for a mouse model of myotonic dystrophy.
9 ead to muscle degeneration disorders such as myotonic dystrophy.
10 des to treat Duchenne muscular dystrophy and myotonic dystrophy.
11 skeletal actin, long repeat) mouse model of myotonic dystrophy.
12 on diseases such as Huntington's disease and myotonic dystrophy.
13 ion disorders such as Huntington disease and myotonic dystrophy.
14 gene causes the autosomal dominant disorder myotonic dystrophy.
15 bias seen in expanded CTG triplet repeats in myotonic dystrophy.
16 ssues, including heart failure, diabetes, or myotonic dystrophy.
17 onduction delay, two predominant features of myotonic dystrophy.
18 causes symptoms in the neuromuscular disease myotonic dystrophy.
19 bset of the cardiac dysfunctions observed in myotonic dystrophy.
20 ical diseases such as Huntington disease and myotonic dystrophy.
21 transition, resulting in the development of myotonic dystrophy.
22 a potential drug target for the treatment of myotonic dystrophy.
23 sting a toxic RNA pathogenesis, as occurs in myotonic dystrophy.
24 hat are specific to skeletal muscle, and the myotonic dystrophies.
25 c syndromes, with particular emphasis on the myotonic dystrophies.
30 ts for Duchenne MD, various limb girdle MDs, myotonic dystrophy 1, facioscapulohumeral MD, dysferlino
33 es of repeat instability and pathogenesis in myotonic dystrophy, a neurological disorder caused by an
34 disease process raises the possibility that myotonic dystrophy, among genetic disorders, may be unus
35 known RNA-mediated disorders, including the myotonic dystrophies and fragile X tremor ataxia syndrom
36 tor protein that plays a pivotal role in the Myotonic Dystrophies and Huntington's Disease, and sever
38 ely short triplet-repeat expansions found in myotonic dystrophy and Friedreich's ataxia confer varieg
41 ls are key players in both the human disease myotonic dystrophy and the regulation of alternative spl
42 ts in Friedreich's ataxia, (CTG)n repeats in myotonic dystrophy, and (CGG)n repeats in fragile X synd
43 sity in humans as may occur in, for example, myotonic dystrophy, and possibly, the metabolically obes
44 rdiac electrophysiological disease; one with myotonic dystrophy; and one with hypertrophic cardiomyop
46 nic mouse model to show that derangements of myotonic dystrophy are reversed by a morpholino antisens
47 leblind-like 1 (MBNL1), a gene implicated in myotonic dystrophy, as a robust suppressor of multiorgan
49 for a therapeutic strategy for treatment of myotonic dystrophy by ablating or silencing expression o
50 sis might have a clinically relevant role in myotonic dystrophy cardiac conduction defects and pathol
66 (MBNL) protein family has been implicated in myotonic dystrophy (DM), a specific function for these p
68 t roles in muscle and eye development and in myotonic dystrophy (DM), in which expanded CUG or CCUG r
69 foci by C(C)UG microsatellite expansions in myotonic dystrophy (DM), is essential for normal thymus
72 proposed first for the neuromuscular disease myotonic dystrophy (DM), which is associated with the ex
78 UGn RNA in the induction of stress in type 1 myotonic dystrophy (DM1) cells and in the stress-mediate
91 s of European origin with PROMM and proximal myotonic dystrophy, from geographically distinct populat
92 ated with multiple human diseases, including myotonic dystrophy, Fuchs endothelial corneal dystrophy,
95 AA)n, are associated with diseases including myotonic dystrophy, Huntington's disease, fragile X and
96 unction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG
97 in the development of RNA splice defects in myotonic dystrophy I (DM1), we purified RNA-independent
99 r phenotype reflects many of the features of myotonic dystrophy, including muscle histological morpho
100 3' UTR mRNA reproduced cardinal features of myotonic dystrophy, including myotonia, cardiac conducti
108 roteins HSP20, HSP25, alphaB-crystallin, and myotonic dystrophy kinase binding protein (MKBP) may reg
111 ation and invasion by binding and activating myotonic dystrophy kinase-related CDC42-binding kinase a
113 ls have been implicated in schizophrenia and myotonic dystrophy (MD), and both conditions carry an in
114 phasis on key updates in muscular dystrophy, myotonic dystrophy, mitochondrial myopathy, spinal muscu
115 hronic progressive external ophthalmoplegia, myotonic dystrophy, neurofibromatosis type 2, and basal
117 cell culture model of myotonic dystrophy and myotonic dystrophy patient tissue, we have evidence that
118 L1, a splicing factor that is sequestered in myotonic dystrophy patients by binding to expanded r(CUG
123 muscle cross-sectional area in patients with myotonic dystrophy, preferentially in healthy-appearing
124 e basis for a new type of instability of the myotonic dystrophy protein kinase (DMPK) gene in patient
126 G)n tract in the 3' UTR of the gene encoding myotonic dystrophy protein kinase (DMPK), which results
129 let-repeat expansion region from a truncated myotonic dystrophy protein kinase transcript mimic in vi
130 -coil domain reminiscent of eukaryotic DMPK (Myotonic Dystrophy Protein Kinase) family kinases such a
133 d the pathobiology of disease mechanisms for myotonic dystrophy, spinal muscular atrophy, and fragile
134 ar ataxia, amyotrophic lateral sclerosis and myotonic dystrophy) that involve mutations within the an
136 c mechanisms that have been proposed for the myotonic dystrophies, the clinical and molecular feature
139 rnative splicing and have been implicated in myotonic dystrophy, the most common form of adult onset
140 ansions of noncoding CUG and CCUG repeats in myotonic dystrophies type 1 (DM1) and DM2 cause complex
143 tive approach to screening and management of myotonic dystrophies type 1 and type 2 requires a multid
144 human samples from patients with congenital myotonic dystrophy type 1 (CDM1) and spinal muscular atr
146 anded rCUG and rCAG repeat RNAs expressed in myotonic dystrophy type 1 (DM1) and spinocerebellar atax
148 d CCUG are the underlying genetic causes for myotonic dystrophy type 1 (DM1) and type 2 (DM2), respec
149 sequence is considered a causative agent of myotonic dystrophy type 1 (DM1) because of its ability t
150 nscript (CUG(exp)) is the causative agent of myotonic dystrophy type 1 (DM1) by sequestering musclebl
151 man spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1) CAG expansion transcript
152 disease (HD) FEN1 +/- heterozygous mice and myotonic dystrophy type 1 (DM1) FEN1 +/- heterozygous mi
154 A working hypothesis for the pathogenesis of myotonic dystrophy type 1 (DM1) involves the aberrant se
188 ion hypothesis for the CTG expansion causing myotonic dystrophy type 1 (DM1) located in the 3' noncod
192 splicing has become a molecular hallmark of myotonic dystrophy type 1 (DM1), in which neonatal splic
193 ough cataract is a characteristic feature of myotonic dystrophy type 1 (DM1), little is known of the
194 and GAA.TTC are integral to the etiology of myotonic dystrophy type 1 (DM1), myotonic dystrophy type
204 date disease for RNAi therapy application is myotonic dystrophy type 1 (DM1), which results from toxi
205 (hDMPK) gene products has been implicated in myotonic dystrophy type 1 (DM1), yet the impact of distr
215 METHODS AND We selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 ye
216 cause dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2), Huntington's di
218 detected in mouse models with DCM, including myotonic dystrophy type 1 and CELF1 overexpression model
219 s previously characterized in the context of myotonic dystrophy type 1 and epithelial-to-mesenchymal
220 se sequences are involved in the etiology of myotonic dystrophy type 1 and Friedreich's ataxia, respe
221 xias and the initial clinical application in myotonic dystrophy type 1 and Huntington's disease.
225 ng in the molecular and clinical features of myotonic dystrophy type 1 as well as the screening of cl
234 he size of the CTG expansion in the blood of myotonic dystrophy type 1 patients is associated with to
235 n contrast to the CUG-RNA hairpins formed by myotonic dystrophy type 1 repeats, we found no evidence
236 umina sequencing in Huntington's disease and myotonic dystrophy type 1 subjects, we show that rs55787
237 der than 18 years with genetically confirmed myotonic dystrophy type 1 who were admitted to the Neuro
238 How this untranslated CTG expansion causes myotonic dystrophy type 1(DM1) has been controversial.
239 been implicated in human diseases including myotonic dystrophy type 1, Alzheimer's disease and multi
241 nine had myotonic dystrophy type 2, one had myotonic dystrophy type 1, and 17 had no identified muta
242 (P = 0.003) in both Huntington's disease and myotonic dystrophy type 1, and slower progression (P = 3
243 isease phenotype in Huntington's disease and myotonic dystrophy type 1, and suggests a common DNA rep
244 le for causing neurological diseases such as myotonic dystrophy type 1, but its binding mechanism rem
245 ples from individuals with one such disease, myotonic dystrophy type 1, provides an opportunity to pa
247 dementia, fragile X tremor ataxia syndrome, myotonic dystrophy type 1, spinocerebellar ataxia type 8
252 uation, out of 1014 patients included in the Myotonic Dystrophy Type 1-Heart Registry between January
266 ranslated CCTG expansion in an intron causes myotonic dystrophy type 2 (DM2) have uncovered a new typ
274 At some sites of repeat expansion, e.g. the myotonic dystrophy type 2 (DM2) tetranucleotide repeat e
275 ribed but untranslated CCTG expansion causes myotonic dystrophy type 2 (DM2), along with other discov
276 oops in r(CCUG)(exp), the causative agent of myotonic dystrophy type 2 (DM2), and are transformed int
277 etiology of myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), and Friedreich's ataxia
283 not well understood and the role of ZNF9 in myotonic dystrophy type 2 pathogenesis has not been full
286 irst intron of the ZNF9 gene associated with myotonic dystrophy type 2, form slipped-strand DNA struc
287 s, 34 had sodium channel mutations, nine had myotonic dystrophy type 2, one had myotonic dystrophy ty
296 muscleblind function and the pathogenesis of myotonic dystrophy, we generated Drosophila incorporatin
297 eases, including spinal muscular atrophy and myotonic dystrophy, where defects of splicing or alterna
298 operties of potential therapeutic agents for myotonic dystrophy, which is caused by sequestration of
300 ment for clinical screening of patients with myotonic dystrophy with proactive and systematic managem