Lévy N - Search Results

1

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.

Cerino M, González-Hormazábal P, Abaji M, Courrier S, Puppo F, Mathieu Y, Trangulao A, Earle N, Castiglioni C, Díaz J, Campero M, Hughes R, Vargas C, Cortés R, Kleinsteuber K, Acosta I, Urtizberea JA, Lévy N, Bartoli M, Krahn M, Jara L, Caviedes P, Gorokhova S, Bevilacqua JA. Cerino M, et al. Among authors: levy n. Genes (Basel). 2022 Jun 16;13(6):1076. doi: 10.3390/genes13061076. Genes (Basel). 2022. PMID: 35741838 Free PMC article.

2

Toward an objective measure of functional disability in dysferlinopathy.

Woudt L, Di Capua GA, Krahn M, Castiglioni C, Hughes R, Campero M, Trangulao A, González-Hormazábal P, Godoy-Herrera R, Lévy N, Urtizberea JA, Jara L, Bevilacqua JA. Woudt L, et al. Among authors: levy n. Muscle Nerve. 2016 Jan;53(1):49-57. doi: 10.1002/mus.24685. Epub 2015 May 23. Muscle Nerve. 2016. PMID: 25900324

3

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: levy n. Genes (Basel). 2022 Jul 19;13(7):1277. doi: 10.3390/genes13071277. Genes (Basel). 2022. PMID: 35886062 Free PMC article.

4

Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases.

Bevilacqua JA, Krahn M, Pedraza L, Gejman R, Gonzalez S, Lévy N. Bevilacqua JA, et al. Among authors: levy n. Genet Test Mol Biomarkers. 2009 Feb;13(1):105-8. doi: 10.1089/gtmb.2008.0091. Genet Test Mol Biomarkers. 2009. PMID: 19309282

5

Translational research and therapeutic perspectives in dysferlinopathies.

Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M. Barthélémy F, et al. Among authors: levy n. Mol Med. 2011 Sep-Oct;17(9-10):875-82. doi: 10.2119/molmed.2011.00084. Epub 2011 May 6. Mol Med. 2011. PMID: 21556485 Free PMC article. Review.

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

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

8

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.

Dionnet E, Defour A, Da Silva N, Salvi A, Lévy N, Krahn M, Bartoli M, Puppo F, Gorokhova S. Dionnet E, et al. Among authors: levy n. Hum Mutat. 2020 Oct;41(10):1797-1810. doi: 10.1002/humu.24083. Epub 2020 Jul 27. Hum Mutat. 2020. PMID: 32668095

9

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.

Barthélémy F, Defour A, Lévy N, Krahn M, Bartoli M. Barthélémy F, et al. Among authors: levy n. J Neuromuscul Dis. 2018;5(1):21-28. doi: 10.3233/JND-170251. J Neuromuscul Dis. 2018. PMID: 29480214 Free PMC article. Review.

10

Dysferlin Exon 32 Skipping in Patient Cells.

Barthélémy F, Courrier S, Lévy N, Krahn M, Bartoli M. Barthélémy F, et al. Among authors: levy n. Methods Mol Biol. 2018;1828:489-496. doi: 10.1007/978-1-4939-8651-4_31. Methods Mol Biol. 2018. PMID: 30171562

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