9 results for author:"Tome F.M.S." in Literature citations
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| Congenital muscular dystrophy with primary partial laminin alpha-2 chain deficiency: molecular study. He Y., Jones K.J., Vignier N., Morgan G., Chevallay M., Barois A., Estournet-Mathiaud B., Hori H., Mizuta T., Tome F.M.S. et al. Neurology 57:1319-1322(2001) · UniProtKB (1) |
| Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Calado A., Tome F.M.S., Brais B., Rouleau G.A., Kuehn U., Wahle E., Carmo-Fonseca M. Hum. Mol. Genet. 9:2321-2328(2000) · UniProtKB (1) |
| Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Brais B., Bouchard J.-P., Xie Y.-G., Rochefort D.L., Chretien N., Tome F.M.S., Lafreniere R.G., Rommens J.M., Uyama E., Nohira O. et al. Nat. Genet. 18:164-167(1998) · UniProtKB (1) |
| Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). Carrie A., Piccolo F., Leturcq F., de Toma C., Azibi K., Beldjord C., Vallat J.-M., Merlini L., Voit T., Sewry C. et al. J. Med. Genet. 34:470-475(1997) · UniProtKB (1) · Mapped (2) |
| A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India. Piccolo F., Jeanpierre M., Leturcq F., Dode C., Azibi K., Toutain A., Merlini L., Jarre L., Navarro C., Krishnamoorthy R. et al. Hum. Mol. Genet. 5:2019-2022(1996) · UniProtKB (1) |
| Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion island. Fardeau M., Hillaire D., Mignard C., Feingold N., Feingold J., Mignard D., de Ubeda B., Collin H., Tome F.M.S., Richard I. et al. Brain 119:295-308(1996) · UniProtKB (1) |
| Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Roberds S.L., Leturcq F., Allamand V., Piccolo F., Jeanpierre M., Anderson R.D., Lim L.E., Lee J.C., Tome F.M.S., Romero N.B. et al. |
| Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Piccolo F., Roberds S.L., Jeanpierre M., Leturcq F., Azibi K., Beldjord C., Carrie A., Recan D., Chaouch M., Reghis A. et al. Nat. Genet. 10:243-245(1995) · UniProtKB (1) |
| Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Lim L.E., Duclos F., Broux O., Bourg N., Sunada Y., Allamand V., Meyer J., Richard I., Moomaw C., Slaughter C. et al. Nat. Genet. 11:257-265(1995) · UniProtKB (1) |