Virginie Kergourlay

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells

Florian Barthélémy, Cédric M. Blouin, Nicolas Wein et al. · Journal of Neuromuscular Diseases · 2015 · 44 citations · Full text

Medicine, Cell Biology, Molecular Biology +12

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay et al. · Frontiers in Cell and Developmental Biology · 2021 · 29 citations · Full text

Life Sciences, Genetics, Molecular Biology +11

Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

Virginie Kergourlay, Ghadi Raï, Gaëlle Blandin et al. · Human Mutation · 2014 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Janice A. Dominov, Özgün Uyan, Diane McKenna‐Yasek et al. · Annals of Clinical and Translational Neurology · 2019 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

Mathieu Cérino, Svetlana Gorokhova, Anthony Béhin et al. · Journal of Neuromuscular Diseases · 2015 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17