Krahn M - Search Results

1

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

Gorokhova S, Cerino M, Mathieu Y, Courrier S, Desvignes JP, Salgado D, Béroud C, Krahn M, Bartoli M. Gorokhova S, et al. Among authors: krahn m. Appl Transl Genom. 2015 Sep 4;7:26-31. doi: 10.1016/j.atg.2015.07.006. eCollection 2015 Dec. Appl Transl Genom. 2015. PMID: 27054082 Free PMC article.

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

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

6

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

7

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pécheux C, Leturcq F, Cau P, Richard I, Lévy N. Krahn M, et al. Sci Transl Med. 2010 Sep 22;2(50):50ra69. doi: 10.1126/scitranslmed.3000951. Sci Transl Med. 2010. PMID: 20861509

8

Translational research and therapeutic perspectives in dysferlinopathies.

Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M. Barthélémy F, et al. Among authors: krahn m. 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.

9

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

10

Further heterogeneity in myopathy with tubular aggregates?

De Paula AM, Bartoli M, Courrier S, Pouget J, Levy N, Pellissier JF, Figarella-Branger D, Krahn M, Attarian S. De Paula AM, et al. Among authors: krahn m. Muscle Nerve. 2012 Dec;46(6):984-5. doi: 10.1002/mus.23509. Muscle Nerve. 2012. PMID: 23225398 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

576 results

Search Page

Filters