J. Andoni Urtizberea

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

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

Sophie Nicole, Claire-Sophie Davoine, Haluk Topaloğlu et al. · Nature Genetics · 2000 · 299 citations

Medicine, Cell Biology, Pathology +11

Calpainopathy—A Survey of Mutations and Polymorphisms

Carinne Roudaut, Amets Sáenz, Robert Pogue et al. · The American Journal of Human Genetics · 1999 · 206 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

A. Reghan Foley, Manoj P. Menezes, Amelie Pandraud et al. · Brain · 2013 · 182 citations · Full text

Life Sciences, Genetics, Neurology +15

LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

Amets Sáenz, France Leturcq, A.M. Cobo et al. · Brain · 2005 · 181 citations · Full text

Medicine, Genetics, Molecular Genetics +16