Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

por Kergourlay, Virginie, Blandin, Gaëlle, Blanck, Véronique, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin
Publicado 2015

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

por Ballouhey, Océane, Courrier, Sébastien, Kergourlay, Virginie, Gorokhova, Svetlana, Cerino, Mathieu, Krahn, Martin, Lévy, Nicolas, Bartoli, Marc
Publicado 2021

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

por Cerino, Mathieu, Gorokhova, Svetlana, Béhin, Anthony, Urtizberea, Jon Andoni, Kergourlay, Virginie, Salvo, Eric, Bernard, Rafaëlle, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin
Publicado 2015

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

por Barthélémy, Florian, Blouin, Cédric, Wein, Nicolas, Mouly, Vincent, Courrier, Sébastien, Dionnet, Eugénie, Kergourlay, Virginie, Mathieu, Yves, Garcia, Luis, Butler-Browne, Gillian, Lamaze, Christophe, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc
Publicado 2015

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

por Dominov, Janice A., Uyan, Özgün, McKenna‐Yasek, Diane, Nallamilli, Babi Ramesh Reddy, Kergourlay, Virginie, Bartoli, Marc, Levy, Nicolas, Hudson, Judith, Evangelista, Teresinha, Lochmuller, Hanns, Krahn, Martin, Rufibach, Laura, Hegde, Madhuri, Brown, Robert H.
Publicado 2019