Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation

The Cardiac Mechanical Stretch Sensor Machinery Involves a Z Disc Complex that Is Defective in a Subset of Human Dilated Cardiomyopathy

Ralph Knöll, Masahiko Hoshijima, Hal M. Hoffman et al. · Cell · 2002 · 790 citations · Full text

Medicine, Cardiology, Physiology +15

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Eloísa S. Moreira, Tim Wiltshire, Georgine Faulkner et al. · Nature Genetics · 2000 · 334 citations

Medicine, Genetics, Molecular Genetics +13

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

Takeharu Hayashi, Takuro Arimura, Manatsu Itoh-Satoh et al. · Journal of the American College of Cardiology · 2004 · 304 citations

Medicine, Cardiology, Genetics +10

Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

J. Martijn Bos, Rainer N. Poley, Melissa Ny et al. · Molecular Genetics and Metabolism · 2005 · 193 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

Giorgio Valle, Georgine Faulkner, Anna De Antoni et al. · FEBS Letters · 1997 · 189 citations · Full text

Life Sciences, Genetics, Molecular Biology +11