Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

Steffan N. Ho, Henry D. Hunt, Robert M. Horton et al. · Gene · 1989 · 7.5K citations

Life Sciences, Biotechnology, Molecular Biology +10

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

Life Sciences, Genetics, Molecular Biology +15

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Lev G. Goldfarb, Kyeyoon Park, Larisa Červen̆áková et al. · Nature Genetics · 1998 · 506 citations

Medicine, Genetics, Molecular Genetics +16

Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

Marinos C. Dalakas, Kyeyoon Park, Cristina Semino‐Mora et al. · New England Journal of Medicine · 2000 · 454 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly

Sergei V. Strelkov, Harald Herrmann, Norbert Geisler et al. · The EMBO Journal · 2002 · 296 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13