Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

The Regulation of Rabbit Skeletal Muscle Contraction

James A. Spudich, Susan Watt · Journal of Biological Chemistry · 1971 · 4.5K citations · Full text

Animal Physiology, Acto-heavy Meromyosin, Atpase Activity +12

PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis

Jeffrey R. O'Connell, Daniel E. Weeks · The American Journal of Human Genetics · 1998 · 2.1K citations · Full text

Genetic Analysis, Haplotype Determination, Linkage Disequilibrium +12

Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

Joshua M. Kaplan, Sung Hyun Kim, Kathryn N. North et al. · Nature Genetics · 2000 · 1.2K citations

Glomerulonephritis, Urology, Medicine +7

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 · 914 citations

Miyoshi Myopathy, Rare Diseases, Mendelian Disorder +6

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