Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency

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

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Carlo Minetti, Federica Sotgia, Claudio Bruno et al. · Nature Genetics · 1998 · 586 citations

Life Sciences, Genetics, Molecular Genetics +7

Emerin deficiency at the nuclear membrane in patients with Emery-Dreif uss muscular dystrophy

Atsushi J. Nagano, Ritsuko Koga, Megumu Ogawa et al. · Nature Genetics · 1996 · 341 citations

Medicine, Molecular Genetics, Human Genetics +8

Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development

Louise V.B. Anderson, Kenneth Davison, Jessica Moss et al. · Human Molecular Genetics · 1999 · 296 citations

Medicine, Genetics, Molecular Biology +15

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, Françoise Pons et al. · Nature Medicine · 1999 · 276 citations

Life Sciences, Cell Biology, Pathology +10