A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

by Océane Ballouhey, Marie Chapoton, Benedicte Alary, Sébastien Courrier, Nathalie Da Silva, Martin Krahn, Nicolas Lévy, Noah Weisleder, Marc Bartoli
Published 2023-05-01

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

by Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Svetlana Gorokhova, Mathieu Cerino, Mathieu Cerino, Martin Krahn, Martin Krahn, Nicolas Lévy, Nicolas Lévy, Nicolas Lévy, Marc Bartoli
Published 2021-11-01

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

by Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Acosta, J. Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A. Bevilacqua
Published 2022-06-01