The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

Brenda Gerull, Michael Gramlich, J. Atherton et al. · Nature Genetics · 2002 · 621 citations

Medicine, Genetics, Molecular Genetics +10

The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

Stephan Lange, Fengqing Xiang, Andrey R Yakovenko et al. · Science · 2005 · 592 citations

Life Sciences, Cell Biology, Molecular Biology +17

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori et al. · The American Journal of Human Genetics · 2002 · 484 citations · Full text

Medicine, Genetics, Molecular Genetics +9

Structural Analysis of the Titin Gene in Hypertrophic Cardiomyopathy: Identification of a Novel Disease Gene

Manatsu Satoh, Megumi Takahashi, Tsuguya Sakamoto et al. · Biochemical and Biophysical Research Communications · 1999 · 329 citations

Life Sciences, Genetics, Molecular Genetics +8

C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy

Virginie Carmignac, Mustafa A. Salih, Susana Quijano‐Roy et al. · Annals of Neurology · 2007 · 250 citations

Medicine, Genetics, Molecular Genetics +17