Fernando Tomé

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

Genetic Disorder, Genetics, Missense Mutation +6

Oculopharyngeal Muscular Dystrophy

Bernard Brais, Guy A. Rouleau, Jean-Pierre Bouchard et al. · Seminars in Neurology · 1999 · 177 citations

Storage of phosphorylated desmin in a familial myopathy

L. Rappaport, F. Contard, Jane‐Lise Samuel et al. · FEBS Letters · 1988 · 103 citations · Full text

Cardiac Muscle, Muscle Function, Molecular Biology +18

Prion protein is abnormally accumulated in inclusion-body myositis

Valerie Askanas, Masako M. Bilak, W. King Engel et al. · Neuroreport · 1993 · 60 citations

[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency].

Françoise Chapon, Fausto Viader, Michel Fardeau et al. · PubMed · 1989 · 36 citations