Leturcq F - Search Results

1

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.

Abaji M, Gorokhova S, Da Silva N, Busa T, Grelet M, Missirian C, Sigaudy S, Philip N, Leturcq F, Lévy N, Krahn M, Bartoli M. Abaji M, et al. Among authors: leturcq f. Genes (Basel). 2022 Jul 19;13(7):1277. doi: 10.3390/genes13071277. Genes (Basel). 2022. PMID: 35886062 Free PMC article.

2

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.

Béroud C, Carrié A, Beldjord C, Deburgrave N, Llense S, Carelle N, Peccate C, Cuisset JM, Pandit F, Carré-Pigeon F, Mayer M, Bellance R, Récan D, Chelly J, Kaplan JC, Leturcq F. Béroud C, et al. Among authors: leturcq f. Neuromuscul Disord. 2004 Jan;14(1):10-8. doi: 10.1016/s0960-8966(03)00169-x. Neuromuscul Disord. 2004. PMID: 14659407

3

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: leturcq f. Science. 2004 Dec 3;306(5702):1796-9. doi: 10.1126/science.1104297. Epub 2004 Nov 4. Science. 2004. PMID: 15528407

4

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, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N. Nguyen K, et al. Among authors: leturcq f. Hum Mutat. 2005 Aug;26(2):165. doi: 10.1002/humu.9355. Hum Mutat. 2005. PMID: 16010686

5

CAPN3 mutations in patients with idiopathic eosinophilic myositis.

Krahn M, Lopez de Munain A, Streichenberger N, Bernard R, Pécheux C, Testard H, Pena-Segura JL, Yoldi E, Cabello A, Romero NB, Poza JJ, Bouillot-Eimer S, Ferrer X, Goicoechea M, Garcia-Bragado F, Leturcq F, Urtizberea JA, Lévy N. Krahn M, et al. Among authors: leturcq f. Ann Neurol. 2006 Jun;59(6):905-11. doi: 10.1002/ana.20833. Ann Neurol. 2006. PMID: 16607617

6

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F. Deburgrave N, et al. Among authors: leturcq f. Hum Mutat. 2007 Feb;28(2):183-95. doi: 10.1002/humu.20422. Hum Mutat. 2007. PMID: 17041906

7

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B. Nguyen K, et al. Among authors: leturcq f. Arch Neurol. 2007 Aug;64(8):1176-82. doi: 10.1001/archneur.64.8.1176. Arch Neurol. 2007. PMID: 17698709

8

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.

Krahn M, Pécheux C, Chapon F, Béroud C, Drouin-Garraud V, Laforet P, Romero NB, Penisson-Besnier I, Bernard R, Urtizberea JA, Leturcq F, Lévy N. Krahn M, et al. Among authors: leturcq f. Clin Genet. 2007 Dec;72(6):582-92. doi: 10.1111/j.1399-0004.2007.00906.x. Epub 2007 Nov 1. Clin Genet. 2007. PMID: 17979987

9

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

Saillour Y, Cossée M, Leturcq F, Vasson A, Beugnet C, Poirier K, Commere V, Sublemontier S, Viel M, Letourneur F, Barbot JC, Deburgrave N, Chelly J, Bienvenu T. Saillour Y, et al. Among authors: leturcq f. Hum Mutat. 2008 Sep;29(9):1083-90. doi: 10.1002/humu.20829. Hum Mutat. 2008. PMID: 18683213

10

Analysis of the DYSF mutational spectrum in a large cohort of patients.

Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N. Krahn M, et al. Among authors: leturcq f. Hum Mutat. 2009 Feb;30(2):E345-75. doi: 10.1002/humu.20910. Hum Mutat. 2009. PMID: 18853459

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