Lévy N - Search Results

1

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: levy n. Hum Mutat. 2009 Feb;30(2):E345-75. doi: 10.1002/humu.20910. Hum Mutat. 2009. PMID: 18853459

2

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: levy n. Hum Mutat. 2005 Aug;26(2):165. doi: 10.1002/humu.9355. Hum Mutat. 2005. PMID: 16010686

3

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: levy n. Arch Neurol. 2007 Aug;64(8):1176-82. doi: 10.1001/archneur.64.8.1176. Arch Neurol. 2007. PMID: 17698709

4

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.

Wein N, Avril A, Bartoli M, Beley C, Chaouch S, Laforêt P, Behin A, Butler-Browne G, Mouly V, Krahn M, Garcia L, Lévy N. Wein N, et al. Among authors: levy n. Hum Mutat. 2010 Feb;31(2):136-42. doi: 10.1002/humu.21160. Hum Mutat. 2010. PMID: 19953532

5

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.

Blandin G, Beroud C, Labelle V, Nguyen K, Wein N, Hamroun D, Williams B, Monnier N, Rufibach LE, Urtizberea JA, Cau P, Bartoli M, Lévy N, Krahn M. Blandin G, et al. Among authors: levy n. Hum Mutat. 2012 Mar;33(3):E2317-31. doi: 10.1002/humu.22015. Epub 2011 Dec 29. Hum Mutat. 2012. PMID: 22213072

6

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Xi J, Blandin G, Lu J, Luo S, Zhu W, Béroud C, Pécheux C, Labelle V, Lévy N, Urtizberea JA, Zhao C, Krahn M. Xi J, et al. Among authors: levy n. Neurol India. 2014 Nov-Dec;62(6):635-9. doi: 10.4103/0028-3886.149386. Neurol India. 2014. PMID: 25591676 Free article.

7

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: levy n. 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

8

Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

Figarella-Branger D, Pouget J, Bernard R, Krahn M, Fernandez C, Lévy N, Pellissier JF. Figarella-Branger D, et al. Among authors: levy n. Neurology. 2003 Aug 26;61(4):562-4. doi: 10.1212/01.wnl.0000076486.57572.5c. Neurology. 2003. PMID: 12939441 Review.

9

Dysferlinopathy in Iran: Clinical and genetic report.

Fatehi F, Nafissi S, Urtizberea JA, Blanck-Labelle V, Lévy N, Krahn M, Dbouk MB, Attarian S. Fatehi F, et al. Among authors: levy n. J Neurol Sci. 2015 Dec 15;359(1-2):256-9. doi: 10.1016/j.jns.2015.11.009. Epub 2015 Nov 11. J Neurol Sci. 2015. PMID: 26671124

10

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: levy n. Ann Neurol. 2006 Jun;59(6):905-11. doi: 10.1002/ana.20833. Ann Neurol. 2006. PMID: 16607617

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