Isabelle Richard

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 997 citations · Full text

Life Sciences, Genetics, Molecular Biology +11

The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

Stephan Lange, Fengqing Xiang, Andrey R Yakovenko et al. · Science · 2005 · 592 citations

Life Sciences, Cell Biology, Molecular Biology +17

Secondary calpain3 deficiency in 2q-linked muscular dystrophy

Henna Haravuori, Anna Vihola, Volker Straub et al. · Neurology · 2001 · 174 citations

Medicine, Genetics, Neurology +13

Functional Defects of a Muscle-specific Calpain, p94, Caused by Mutations Associated with Limb-Girdle Muscular Dystrophy Type 2A

Yasuko Ono, Hiroko Shimada, Hiroyuki Sorimachi et al. · Journal of Biological Chemistry · 1998 · 156 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

Masashi Aoki, J. Liu, Isabelle Richard et al. · Neurology · 2001 · 146 citations · Full text

Medicine, Genetics, Molecular Genetics +16