Virginie Kergourlay
Affiliations: | 2010-2014 | Myologie Translationnelle | Aix Marseille University |
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"Virginie Kergourlay"Mean distance: 17.58 (cluster 32) | S | N | B | C | P |
Parents
Sign in to add mentorMarc Bartoli | grad student | 2010-2014 | Aix Marseille University |
Martin Krahn | grad student | 2010-2014 | Aix Marseille University |
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Publications
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Ballouhey O, Courrier S, Kergourlay V, et al. (2021) The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions. Frontiers in Cell and Developmental Biology. 9: 754555 |
Dominov JA, Uyan Ö, McKenna-Yasek D, et al. (2019) Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Annals of Clinical and Translational Neurology. 6: 642-654 |
Barthélémy F, Blouin C, Wein N, et al. (2015) Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells. Journal of Neuromuscular Diseases. 2: 281-290 |
Cerino M, Gorokhova S, Béhin A, et al. (2015) Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. Journal of Neuromuscular Diseases. 2: 131-136 |
Kergourlay V, Blandin G, Blanck V, et al. (2015) Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides. Annals of Clinical and Translational Neurology. 2: 783-4 |
Kergourlay V, Raï G, Blandin G, et al. (2014) Identification of splicing defects caused by mutations in the dysferlin gene. Human Mutation. 35: 1532-41 |
Barthélémy F, Kergourlay V, Lévy N, et al. (2012) T.P.27 Characterization of the modular domains of dysferlin for gene transfer Neuromuscular Disorders. 22: 860-861 |