Year |
Citation |
Score |
2021 |
Ballouhey O, Courrier S, Kergourlay V, Gorokhova S, Cerino M, Krahn M, Lévy N, Bartoli M. The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions. Frontiers in Cell and Developmental Biology. 9: 754555. PMID 34888307 DOI: 10.3389/fcell.2021.754555 |
0.686 |
|
2019 |
Dominov JA, Uyan Ö, McKenna-Yasek D, Nallamilli BRR, Kergourlay V, Bartoli M, Levy N, Hudson J, Evangelista T, Lochmuller H, Krahn M, Rufibach L, Hegde M, Brown RH. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Annals of Clinical and Translational Neurology. 6: 642-654. PMID 31019989 DOI: 10.1002/Acn3.738 |
0.715 |
|
2015 |
Barthélémy F, Blouin C, Wein N, Mouly V, Courrier S, Dionnet E, Kergourlay V, Mathieu Y, Garcia L, Butler-Browne G, Lamaze C, Lévy N, Krahn M, Bartoli M. Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells. Journal of Neuromuscular Diseases. 2: 281-290. PMID 27858744 DOI: 10.3233/Jnd-150109 |
0.418 |
|
2015 |
Cerino M, Gorokhova S, Béhin A, Urtizberea JA, Kergourlay V, Salvo E, Bernard R, Lévy N, Bartoli M, Krahn M. Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. Journal of Neuromuscular Diseases. 2: 131-136. PMID 27858732 DOI: 10.3233/Jnd-150074 |
0.646 |
|
2015 |
Kergourlay V, Blandin G, Blanck V, Lévy N, Bartoli M, Krahn M. Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides. Annals of Clinical and Translational Neurology. 2: 783-4. PMID 26273692 DOI: 10.1002/Acn3.216 |
0.695 |
|
2014 |
Kergourlay V, Raï G, Blandin G, Salgado D, Béroud C, Lévy N, Krahn M, Bartoli M. Identification of splicing defects caused by mutations in the dysferlin gene. Human Mutation. 35: 1532-41. PMID 25312915 DOI: 10.1002/Humu.22710 |
0.676 |
|
2012 |
Barthélémy F, Kergourlay V, Lévy N, Krahn M, Bartoli M. T.P.27 Characterization of the modular domains of dysferlin for gene transfer Neuromuscular Disorders. 22: 860-861. DOI: 10.1016/J.Nmd.2012.06.192 |
0.698 |
|
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