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LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A. Sáenz A, et al. Among authors: kaplan jc. Brain. 2005 Apr;128(Pt 4):732-42. doi: 10.1093/brain/awh408. Epub 2005 Feb 2. Brain. 2005. PMID: 15689361
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A. Urtasun M, et al. Among authors: kaplan jc. Brain. 1998 Sep;121 ( Pt 9):1735-47. doi: 10.1093/brain/121.9.1735. Brain. 1998. PMID: 9762961
[Molecular bases of dystrophinopathies].
Leturcq F, Kaplan JC. Leturcq F, et al. Among authors: kaplan jc. J Soc Biol. 2005;199(1):5-11. doi: 10.1051/jbio:2005001. J Soc Biol. 2005. PMID: 16114258 Review. French.
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan JC, Urtizberea JA, Politano L, Piluso G, Feingold J. Canki-Klain N, et al. Among authors: kaplan jc. Am J Med Genet A. 2004 Mar 1;125A(2):152-6. doi: 10.1002/ajmg.a.20408. Am J Med Genet A. 2004. PMID: 14981715 Review.
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J. Trabelsi M, et al. Among authors: kaplan jc. Eur J Hum Genet. 2008 Jul;16(7):793-803. doi: 10.1038/ejhg.2008.9. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285821
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.
Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S. Barthélémy I, et al. Among authors: kaplan jc. Skelet Muscle. 2020 Aug 7;10(1):23. doi: 10.1186/s13395-020-00239-0. Skelet Muscle. 2020. PMID: 32767978 Free PMC article.
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C.
Dinçer P, Piccolo F, Leturcq F, Kaplan JC, Jeanpierre M, Topaloğlu H. Dinçer P, et al. Among authors: kaplan jc. Prenat Diagn. 1998 Dec;18(12):1300-3. doi: 10.1002/(sici)1097-0223(199812)18:12<1300::aid-pd436>3.0.co;2-h. Prenat Diagn. 1998. PMID: 9885023
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, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J. Daoud F, et al. Among authors: kaplan jc. Hum Mol Genet. 2009 Oct 15;18(20):3779-94. doi: 10.1093/hmg/ddp320. Epub 2009 Jul 14. Hum Mol Genet. 2009. PMID: 19602481
Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping.
Goyenvalle A, Vulin A, Fougerousse F, Leturcq F, Kaplan JC, Garcia L, Danos O. Goyenvalle A, et al. Among authors: kaplan jc. Science. 2004 Dec 3;306(5702):1796-9. doi: 10.1126/science.1104297. Epub 2004 Nov 4. Science. 2004. PMID: 15528407
337 results