F
Fernando M.S. Tomé
Researcher at French Institute of Health and Medical Research
Publications - 96
Citations - 8577
Fernando M.S. Tomé is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Muscular dystrophy & Oculopharyngeal muscular dystrophy. The author has an hindex of 41, co-authored 96 publications receiving 8345 citations. Previous affiliations of Fernando M.S. Tomé include Université de Montréal & Glostrup Hospital.
Papers
More filters
Journal ArticleDOI
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
Patrick Vicart,Patrick Vicart,Anne Caron,Pascale Guicheney,Zhenlin Li,Zhenlin Li,Marie-Christine Prévost,Armelle Faure,Danielle Chateau,Françoise Chapon,Fernando M.S. Tomé,Jean-Marie Dupret,Denise Paulin,Denise Paulin,Michel Fardeau +14 more
TL;DR: These results are the first to identify a defect in a molecular chaperone as a cause for an inherited human muscle disorder, and an R120G missense mutation in CRYAB that co-segregates with the disease phenotype in this family.
Journal ArticleDOI
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Bernard Brais,Jean-Pierre Bouchard,Ya-Gang Xie,Daniel Rochefort,Nathalie Chretien,Fernando M.S. Tomé,Ronald G. Lafrenière,Johanna M. Rommens,E. Uyama,O. Nohira,Sergiu C. Blumen,Amos D. Korczyn,Peter Heutink,Jean Mathieu,André Duranceau,François Codère,Michel Fardeau,Guy A. Rouleau +17 more
TL;DR: Pathological expansions of the polyalanine tract may cause mutated PABP2 oligomers to accumulate as filament inclusions in nuclei to cause autosomal recessive OPMD.
Journal ArticleDOI
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
Anne Helbling-Leclerc,X. Zhang,Haluk Topaloglu,Corinne Cruaud,F. Tesson,Jean Weissenbach,Fernando M.S. Tomé,Ketty Schwartz,Michel Fardeau,Karl Tryggvason +9 more
TL;DR: The LAMA2 gene was investigated for the presence of disease-causing mutations in laminin α2 chain-deficient CMD families and now report splice site and nonsense mutations in two families leading presumably to a truncated laminIn α2 protein.
Journal ArticleDOI
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
Steven L. Roberds,Valérie Allamand,F. Piccolo,Marc Jeanpierre,Richard D. Anderson,Leland E. Lim,Jane C. Lee,Fernando M.S. Tomé,Norma B. Romero,Michel Fardeau,Jacques S. Beckmann,Jean-Claude Kaplan,Kevin P. Campbell +12 more
TL;DR: The adhalin gene is involved in at least one form of autosomal recessive muscular dystrophy because one allelic variant of a polymorphic microsatellite located within intron 6 of the ad Halin gene cosegregated perfectly with the disease phenotype in a large family.
Journal ArticleDOI
β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12
Leland E. Lim,Franck Duclos,Odile Broux,Nathalie Bourg,Yoshihide Sunada,Valérie Allamand,Jon Meyer,Isabelle Richard,Carolyn R. Moomaw,Clive A. Slaughter,Fernando M.S. Tomé,Michel Fardeau,Charles E. Jackson,Jacques S. Beckmann,Kevin P. Campbell +14 more
TL;DR: The β-sarcoglycan gene is the fifth locus identified (LGMD2E) that is involved in autosomal recessive limb-girdle muscular dystrophy in several Amish families.