Krahn M - Search Results

1

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.

Vecten M, Pion E, Bartoli M, Morales RJ, Sternberg D, Rendu J, Stojkovic T, Bourdain CA, Métay C, Richard I, Cerino M, Milh M, Campana-Salort E, Gorokhova S, Levy N, Latypova X, Bonne G, Biancalana V, Petit F, Molon A, Perrin A, Laforêt P, Attarian S, Krahn M, Cossée M. Vecten M, et al. Among authors: krahn m. Int J Mol Sci. 2022 Jul 31;23(15):8506. doi: 10.3390/ijms23158506. Int J Mol Sci. 2022. PMID: 35955641 Free PMC article.

2

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: krahn m. Neurology. 2003 Aug 26;61(4):562-4. doi: 10.1212/01.wnl.0000076486.57572.5c. Neurology. 2003. PMID: 12939441 Review.

3

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

4

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

5

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. 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

6

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

7

Dysferlinopathies.

Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N. Urtizberea JA, et al. Among authors: krahn m. Neurol India. 2008 Jul-Sep;56(3):289-97. doi: 10.4103/0028-3886.43447. Neurol India. 2008. PMID: 18974555 Free article. Review.

8

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies.

Wein N, Krahn M, Courrier S, Bartoli M, Salort-Campana E, Nguyen K, Fernandez C, Pouget J, Fossat C, Depetris D, Leturcq F, Cau P, Levy N. Wein N, et al. Among authors: krahn m. Neuromuscul Disord. 2010 Jan;20(1):57-60. doi: 10.1016/j.nmd.2009.08.004. Epub 2009 Oct 23. Neuromuscul Disord. 2010. PMID: 19854055

9

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients.

Krahn M, Labelle V, Borges A, Bartoli M, Lévy N. Krahn M, et al. Genet Test Mol Biomarkers. 2010 Feb;14(1):153-4. doi: 10.1089/gtmb.2009.0131. Genet Test Mol Biomarkers. 2010. PMID: 19929428

10

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: krahn m. Hum Mutat. 2010 Feb;31(2):136-42. doi: 10.1002/humu.21160. Hum Mutat. 2010. PMID: 19953532

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