Michel Fardeau

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Gisèle Bonne, Marina Raffaele di Barletta, Shaïda Varnous et al. · Nature Genetics · 1999 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +7

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

Life Sciences, Genetics, Molecular Biology +15

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

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Jing Liu, Masashi Aoki, Isabel Illa et al. · Nature Genetics · 1998 · 919 citations

Medicine, Genetics, Molecular Genetics +12

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Bernard Brais, Jean‐Pierre Bouchard, Ya‐Gang Xie et al. · Nature Genetics · 1998 · 798 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8