Y. Mathieu

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

F. Puppo, N. Lévy, J. Bevilacqua, 2022, Genes.

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

G. Butler-Browne, V. Mouly, N. Lévy, 2015, Journal of neuromuscular diseases.

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

Christophe Béroud, Svetlana Gorokhova, Mathieu Cerino, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

C. Béroud, D. Salgado, J. Desvignes, 2015, Applied & translational genomics.