Myotonic Dystrophy

Known as: Myotonic muscular dystrophy, Myotonia Dystrophica, Steinert's Disease 
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may… (More)
National Institutes of Health

Papers overview

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Highly Cited
2008
Highly Cited
2008
BACKGROUND Sudden death can occur as a consequence of cardiac-conduction abnormalities in the neuromuscular disease myotonic… (More)
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Highly Cited
2006
Highly Cited
2006
In myotonic dystrophy (DM), expression of RNA containing expanded CUG or CCUG repeats leads to misregulated alternative splicing… (More)
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Highly Cited
2003
Highly Cited
2003
The neuromuscular disease myotonic dystrophy (DM) is caused by microsatellite repeat expansions at two different genomic loci… (More)
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Highly Cited
1998
Highly Cited
1998
Myotonic dystrophy (DM) is caused by a CTG expansion in the 3' untranslated region of the DM gene. One model of DM pathogenesis… (More)
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Highly Cited
1996
Highly Cited
1996
The small GTP-binding protein Rho functions as a molecular switch in the formation of focal adhesions and stress fibers… (More)
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Highly Cited
1995
Highly Cited
1995
Homozygous loss of the warts (wts) gene of Drosophila, caused by mitotic recombination in somatic cells, leads to the formation… (More)
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Highly Cited
1995
Highly Cited
1995
We have analyzed the intracellular localization of transcripts from the myotonin protein kinase (Mt-PK) gene in fibroblasts and… (More)
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Highly Cited
1992
Highly Cited
1992
Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning strategy to identify unstable genetic… (More)
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Highly Cited
1992
Highly Cited
1992
Using positional cloning strategies, we have identified a CTG triplet repeat that undergoes expansion in myotonic dystrophy… (More)
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Highly Cited
1992
Highly Cited
1992
Myotonic dystrophy (DM) is the most common inherited neuromuscular disease in adults, with a global incidence of 1 in 8000… (More)
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