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1 ed and studied with respect to their role in myotonic dystrophy.
2 lular localization is a central component of myotonic dystrophy.
3 ead to muscle degeneration disorders such as myotonic dystrophy.
4 des to treat Duchenne muscular dystrophy and myotonic dystrophy.
5 skeletal actin, long repeat) mouse model of myotonic dystrophy.
6 ion disorders such as Huntington disease and myotonic dystrophy.
7 onduction delay, two predominant features of myotonic dystrophy.
8 gene causes the autosomal dominant disorder myotonic dystrophy.
9 bias seen in expanded CTG triplet repeats in myotonic dystrophy.
10 causes symptoms in the neuromuscular disease myotonic dystrophy.
11 isorders, including Huntington's disease and myotonic dystrophy.
12 bset of the cardiac dysfunctions observed in myotonic dystrophy.
13 ical diseases such as Huntington disease and myotonic dystrophy.
14 a potential drug target for the treatment of myotonic dystrophy.
15 sting a toxic RNA pathogenesis, as occurs in myotonic dystrophy.
16 e diseases, including Huntington disease and myotonic dystrophy.
17 ssues, including heart failure, diabetes, or myotonic dystrophy.
18 uscle weakness and wasting characteristic of myotonic dystrophy.
19 disease severity and therapeutic response in myotonic dystrophy.
20 facioscapulohumeral muscular dystrophy, and myotonic dystrophy.
21 hogenic feature of the neuromuscular disease myotonic dystrophy.
22 hat are specific to skeletal muscle, and the myotonic dystrophies.
23 c syndromes, with particular emphasis on the myotonic dystrophies.
30 MPK at the DM1 locus on chromosome 19 causes myotonic dystrophy, a dominantly inherited disease chara
31 es of repeat instability and pathogenesis in myotonic dystrophy, a neurological disorder caused by an
33 disease process raises the possibility that myotonic dystrophy, among genetic disorders, may be unus
34 known RNA-mediated disorders, including the myotonic dystrophies and fragile X tremor ataxia syndrom
35 tor protein that plays a pivotal role in the Myotonic Dystrophies and Huntington's Disease, and sever
37 t sequences 5'-(CTG)n and 5'-(CGG)n leads to myotonic dystrophy and fragile X syndrome, respectively.
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 , and 830 repeats of (CTG)n, which codes for myotonic dystrophy, and 130 and 600 repeats of (CGG)n, w
44 sity in humans as may occur in, for example, myotonic dystrophy, and possibly, the metabolically obes
45 ncy contributes to the cataract phenotype in myotonic dystrophy, and that myotonic dystrophy represen
46 rdiac electrophysiological disease; one with myotonic dystrophy; and one with hypertrophic cardiomyop
48 nic mouse model to show that derangements of myotonic dystrophy are reversed by a morpholino antisens
49 leblind-like 1 (MBNL1), a gene implicated in myotonic dystrophy, as a robust suppressor of multiorgan
52 for a therapeutic strategy for treatment of myotonic dystrophy by ablating or silencing expression o
53 sis might have a clinically relevant role in myotonic dystrophy cardiac conduction defects and pathol
56 (TTC) repeats from the fragile X (CGG).CCG), myotonic dystrophy (CTG).(CAG) and the Huntington (CAG).
58 sion of a CTG repeat at the DM1 locus causes myotonic dystrophy (DM) by altering the expression of th
64 utant myotonin protein kinase (DMPK) mRNA in myotonic dystrophy (DM) is associated with alterations i
76 (MBNL) protein family has been implicated in myotonic dystrophy (DM), a specific function for these p
78 t roles in muscle and eye development and in myotonic dystrophy (DM), in which expanded CUG or CCUG r
83 proposed first for the neuromuscular disease myotonic dystrophy (DM), which is associated with the ex
89 UGn RNA in the induction of stress in type 1 myotonic dystrophy (DM1) cells and in the stress-mediate
102 s of European origin with PROMM and proximal myotonic dystrophy, from geographically distinct populat
103 ated with multiple human diseases, including myotonic dystrophy, Fuchs endothelial corneal dystrophy,
104 hanism of cardiac and muscle degeneration in myotonic dystrophy has been re-evaluated through a serie
107 AA)n, are associated with diseases including myotonic dystrophy, Huntington's disease, fragile X and
108 unction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG
109 in the development of RNA splice defects in myotonic dystrophy I (DM1), we purified RNA-independent
111 r phenotype reflects many of the features of myotonic dystrophy, including muscle histological morpho
112 3' UTR mRNA reproduced cardinal features of myotonic dystrophy, including myotonia, cardiac conducti
120 roteins HSP20, HSP25, alphaB-crystallin, and myotonic dystrophy kinase binding protein (MKBP) may reg
123 ation and invasion by binding and activating myotonic dystrophy kinase-related CDC42-binding kinase a
125 ls have been implicated in schizophrenia and myotonic dystrophy (MD), and both conditions carry an in
126 phasis on key updates in muscular dystrophy, myotonic dystrophy, mitochondrial myopathy, spinal muscu
127 hronic progressive external ophthalmoplegia, myotonic dystrophy, neurofibromatosis type 2, and basal
129 cell culture model of myotonic dystrophy and myotonic dystrophy patient tissue, we have evidence that
130 L1, a splicing factor that is sequestered in myotonic dystrophy patients by binding to expanded r(CUG
135 e whether SIX5 deficiency contributes to the myotonic dystrophy phenotype, we disrupted mouse Six5 by
136 e basis for a new type of instability of the myotonic dystrophy protein kinase (DMPK) gene in patient
139 G)n tract in the 3' UTR of the gene encoding myotonic dystrophy protein kinase (DMPK), which results
142 let-repeat expansion region from a truncated myotonic dystrophy protein kinase transcript mimic in vi
143 -coil domain reminiscent of eukaryotic DMPK (Myotonic Dystrophy Protein Kinase) family kinases such a
146 ct phenotype in myotonic dystrophy, and that myotonic dystrophy represents a multigenic disorder.
147 d the pathobiology of disease mechanisms for myotonic dystrophy, spinal muscular atrophy, and fragile
148 ersion is the likely expansion mechanism for myotonic dystrophy, spinocerebellar ataxia type 8, and f
149 ar ataxia, amyotrophic lateral sclerosis and myotonic dystrophy) that involve mutations within the an
151 c mechanisms that have been proposed for the myotonic dystrophies, the clinical and molecular feature
154 rnative splicing and have been implicated in myotonic dystrophy, the most common form of adult onset
155 ansions of noncoding CUG and CCUG repeats in myotonic dystrophies type 1 (DM1) and DM2 cause complex
158 tive approach to screening and management of myotonic dystrophies type 1 and type 2 requires a multid
159 human samples from patients with congenital myotonic dystrophy type 1 (CDM1) and spinal muscular atr
161 anded rCUG and rCAG repeat RNAs expressed in myotonic dystrophy type 1 (DM1) and spinocerebellar atax
163 d CCUG are the underlying genetic causes for myotonic dystrophy type 1 (DM1) and type 2 (DM2), respec
164 sequence is considered a causative agent of myotonic dystrophy type 1 (DM1) because of its ability t
165 nscript (CUG(exp)) is the causative agent of myotonic dystrophy type 1 (DM1) by sequestering musclebl
166 man spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1) CAG expansion transcript
167 disease (HD) FEN1 +/- heterozygous mice and myotonic dystrophy type 1 (DM1) FEN1 +/- heterozygous mi
168 A working hypothesis for the pathogenesis of myotonic dystrophy type 1 (DM1) involves the aberrant se
199 ion hypothesis for the CTG expansion causing myotonic dystrophy type 1 (DM1) located in the 3' noncod
204 splicing has become a molecular hallmark of myotonic dystrophy type 1 (DM1), in which neonatal splic
205 ough cataract is a characteristic feature of myotonic dystrophy type 1 (DM1), little is known of the
206 and GAA.TTC are integral to the etiology of myotonic dystrophy type 1 (DM1), myotonic dystrophy type
213 date disease for RNAi therapy application is myotonic dystrophy type 1 (DM1), which results from toxi
214 (hDMPK) gene products has been implicated in myotonic dystrophy type 1 (DM1), yet the impact of distr
223 METHODS AND We selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 ye
224 cause dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2), Huntington's di
226 detected in mouse models with DCM, including myotonic dystrophy type 1 and CELF1 overexpression model
227 s previously characterized in the context of myotonic dystrophy type 1 and epithelial-to-mesenchymal
228 se sequences are involved in the etiology of myotonic dystrophy type 1 and Friedreich's ataxia, respe
232 ng in the molecular and clinical features of myotonic dystrophy type 1 as well as the screening of cl
241 he size of the CTG expansion in the blood of myotonic dystrophy type 1 patients is associated with to
242 n contrast to the CUG-RNA hairpins formed by myotonic dystrophy type 1 repeats, we found no evidence
243 der than 18 years with genetically confirmed myotonic dystrophy type 1 who were admitted to the Neuro
244 How this untranslated CTG expansion causes myotonic dystrophy type 1(DM1) has been controversial.
246 nine had myotonic dystrophy type 2, one had myotonic dystrophy type 1, and 17 had no identified muta
247 ples from individuals with one such disease, myotonic dystrophy type 1, provides an opportunity to pa
249 dementia, fragile X tremor ataxia syndrome, myotonic dystrophy type 1, spinocerebellar ataxia type 8
254 uation, out of 1014 patients included in the Myotonic Dystrophy Type 1-Heart Registry between January
267 ranslated CCTG expansion in an intron causes myotonic dystrophy type 2 (DM2) have uncovered a new typ
275 At some sites of repeat expansion, e.g. the myotonic dystrophy type 2 (DM2) tetranucleotide repeat e
276 ribed but untranslated CCTG expansion causes myotonic dystrophy type 2 (DM2), along with other discov
277 oops in r(CCUG)(exp), the causative agent of myotonic dystrophy type 2 (DM2), and are transformed int
278 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
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