19 results for author:"Leturcq F." in Literature citations
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| Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. Bouquet F., Cossee M., Behin A., Deburgrave N., Romero N., Leturcq F., Eymard B. Rev. Neurol. (Paris) 168:135-141(2012) · Mapped (1) |
| A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Krahn M., Wein N., Bartoli M., Lostal W., Courrier S., Bourg-Alibert N., Nguyen K., Vial C., Streichenberger N., Labelle V. et al. Sci Transl Med 2:50ra69-50ra69(2010) · UniProtKB (1) |
| Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Daoud F., Angeard N., Demerre B., Martie I., Benyaou R., Leturcq F., Cossee M., Deburgrave N., Saillour Y., Tuffery S. et al. Hum. Mol. Genet. 18:3779-3794(2009) · Mapped (69) |
| Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. Cossee M., Lagier-Tourenne C., Seguela C., Mohr M., Leturcq F., Gundesli H., Chelly J., Tranchant C., Koenig M., Mandel J.L. Neuromuscul. Disord. 19:255-260(2009) · Mapped (1) |
| Analysis of the DYSF mutational spectrum in a large cohort of patients. Krahn M., Beroud C., Labelle V., Nguyen K., Bernard R., Bassez G., Figarella-Branger D., Fernandez C., Bouvenot J., Richard I. et al. |
| Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. Manya H., Bouchet C., Yanagisawa A., Vuillaumier-Barrot S., Quijano-Roy S., Suzuki Y., Maugenre S., Richard P., Inazu T., Merlini L. et al. Neuromuscul. Disord. 18:45-51(2008) · Mapped (15) |
| New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. Yanagisawa A., Bouchet C., Van den Bergh P.Y., Cuisset J.M., Viollet L., Leturcq F., Romero N.B., Quijano-Roy S., Fardeau M., Seta N. et al. |
| Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? Ben Yaou R., Toutain A., Arimura T., Demay L., Massart C., Peccate C., Muchir A., Llense S., Deburgrave N., Leturcq F. et al. Neurology 68:1883-1894(2007) · Mapped (13) |
| C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Carmignac V., Salih M.A.M., Quijano-Roy S., Marchand S., Al Rayess M.M., Mukhtar M.M., Urtizberea J.A., Labeit S., Guicheney P., Leturcq F. et al. |
| Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Nguyen K., Bassez G., Bernard R., Krahn M., Labelle V., Figarella-Branger D., Pouget J., Hammouda el H., Beroud C., Urtizberea A. et al. |
| Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through. Leroux A., Leturcq F., Deburgrave N., Szajnert M.F. Eur. J. Haematol. 74:389-395(2005) · Mapped (5) |
| Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. Beroud C., Carrie A., Beldjord C., Deburgrave N., Llense S., Carelle N., Peccate C., Cuisset J.M., Pandit F., Carre-Pigeon F. et al. Neuromuscul. Disord. 14:10-18(2004) · Mapped (69) |
| Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain). Urtasun M., Saenz A., Roudaut C., Poza J.J., Urtizberea J.A., Cobo A.-M., Richard I., Garcia Bragado F., Leturcq F., Kaplan J.-C. et al. Brain 121:1735-1747(1998) · UniProtKB (1) |
| A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Dincer P., Leturcq F., Richard I., Piccolo F., Yalnizoglu D., de Toma C., Akcoeren Z., Broux O., Deburgrave N., Brenguier L. et al. Ann. Neurol. 42:222-229(1997) · 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) |
| Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. Jung D., Leturcq F., Sunada Y., Duclos F., Tome F.M., Moomaw C., Merlini L., Azibi K., Chaouch M., Slaughter C. et al. FEBS Lett. 381:15-20(1996) |
| 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) |