Isabelle Richard

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Rumaisa Bashir, S. Britton, Tom Strachan et al. · Nature Genetics · 1998 · 679 citations

Spermatogenesis, Developmental Biology, Genetic Disorder +10

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori et al. · The American Journal of Human Genetics · 2002 · 479 citations · Full text

Developmental Biology, Skeletal Muscle, Genetic Disorder +8

Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

Véronique Bolduc, Gareth Marlow, Kym M. Boycott et al. · The American Journal of Human Genetics · 2010 · 280 citations · Full text

Channelopathies, Molecular Physiology, Cause Proximal Lgmd2l +8

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

Stephen Baghdiguian, Marianne Martin, Isabelle Richard et al. · Nature Medicine · 1999 · 275 citations

Signal Transduction, Molecular Physiology, Skeletal Muscle +12

Evaluation of the Cytotoxicity Effect of Dimethyl Sulfoxide (DMSO) on Caco2/TC7 Colon Tumor Cell Cultures.

Georges Da Violante, Naïma Zerrouk, Isabelle Richard et al. · Biological and Pharmaceutical Bulletin · 2002 · 244 citations · Full text

Dmso Solutions, Chemoprevention Strategy, Pathology +18