Véronique Blanck

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

N. Philip, P. Calvas, N. Lévy, 2019, Orphanet Journal of Rare Diseases.

Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

N. Lévy, M. Bartoli, M. Krahn, 2020, Annals of clinical and translational neurology.

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

N. Lévy, S. Gorokhova, M. Bartoli, 2021, Genetics in Medicine.

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

Christophe Béroud, Arnaud Blanchard, Morgane Miltgen, 2016, Movement disorders : official journal of the Movement Disorder Society.

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

C. Béroud, D. Salgado, Ghadi Rai, 2016, Movement disorders : official journal of the Movement Disorder Society.