Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

Mani S. Mahadevan, Catherine Tsilfidis, Luc A. Sabourin et al. · Science · 1992 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +14

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

Rajesh S. Savkur, Anne V. Philips, Thomas A. Cooper · Nature Genetics · 2001 · 797 citations

Medicine, Molecular Biology, Molecular Genetics +15

A Muscleblind Knockout Model for Myotonic Dystrophy

Rahul Kanadia, Karen A. Johnstone, Ami Mankodi et al. · Science · 2003 · 748 citations

Life Sciences, Genetics, Molecular Genetics +16

Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat

Ami Mankodi, Eric L. Logigian, Linda M. Callahan et al. · Science · 2000 · 741 citations

Life Sciences, Genetics, Molecular Biology +13

Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy

Ami Mankodi, Masanori Takahashi, Hong Jiang et al. · Molecular Cell · 2002 · 666 citations · Full text

Medicine, Genetics, Molecular Biology +13