Krahn M - Search Results

1

Actionable Genes, Core Databases, and Locus-Specific Databases.

Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Salgado D, Fabre A, Arnaud P, Barré L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Béroud C, Collod-Béroud G. Pinard A, et al. Among authors: krahn m. Hum Mutat. 2016 Dec;37(12):1299-1307. doi: 10.1002/humu.23112. Epub 2016 Sep 26. Hum Mutat. 2016. PMID: 27600092

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

3

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

4

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

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: krahn m. Hum Mutat. 2012 Mar;33(3):E2317-31. doi: 10.1002/humu.22015. Epub 2011 Dec 29. Hum Mutat. 2012. PMID: 22213072

6

Identification of splicing defects caused by mutations in the dysferlin gene.

Kergourlay V, Raï G, Blandin G, Salgado D, Béroud C, Lévy N, Krahn M, Bartoli M. Kergourlay V, et al. Among authors: krahn m. Hum Mutat. 2014 Dec;35(12):1532-41. doi: 10.1002/humu.22710. Hum Mutat. 2014. PMID: 25312915

7

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: krahn m. Neurol India. 2014 Nov-Dec;62(6):635-9. doi: 10.4103/0028-3886.149386. Neurol India. 2014. PMID: 25591676 Free article.

8

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.

Puppo F, Dionnet E, Gaillard MC, Gaildrat P, Castro C, Vovan C, Bertaux K, Bernard R, Attarian S, Goto K, Nishino I, Hayashi Y, Magdinier F, Krahn M, Helmbacher F, Bartoli M, Lévy N. Puppo F, et al. Among authors: krahn m. Hum Mutat. 2015 Apr;36(4):443-53. doi: 10.1002/humu.22760. Epub 2015 Mar 19. Hum Mutat. 2015. PMID: 25615407

9

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.

Sevy A, Cerino M, Gorokhova S, Dionnet E, Mathieu Y, Verschueren A, Franques J, Maues de Paula A, Figarella-Branger D, Lagarde A, Desvignes JP, Béroud C, Attarian S, Levy N, Bartoli M, Krahn M, Campana-Salort E, Pouget J. Sevy A, et al. Among authors: krahn m. J Neurol Neurosurg Psychiatry. 2016 Mar;87(3):340-2. doi: 10.1136/jnnp-2014-309663. Epub 2015 Mar 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 25783436 No abstract available.

10

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.

Lacoste C, Desvignes JP, Salgado D, Pecheux C, Villard L, Bartoli M, Beroud C, Levy N, Badens C, Krahn M. Lacoste C, et al. Among authors: krahn m. J Genet. 2016 Mar;95(1):203-8. doi: 10.1007/s12041-016-0619-0. J Genet. 2016. PMID: 27019452 No abstract available.

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