Résultats pour : "névropathie"

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model. Sarzi Emmanuelle, Seveno Marie, Piro-Megy Camille, Elzière Lucie, Quilès Mélanie, Péquignot Marie, Müller Agnès, Hamel Christian P., Lenaers Guy, Delettre Cécile. 2018. Scientific Reports, 8 (1):2468, 6 p.

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. Angebault Claire, Charif Majida, Guegen Naig, Piro-Megy Camille, Mousson de Camaret Camille, Procaccio Vincent, Guichet Pierre-Olivier, Hebrard Maxime, Manes Gael, Leboucq Nicolas, Rivier François, Hamel Christian P., Lenaers Guy, Roubertie Agathe. 2015. Human Molecular Genetics, 24 (14) : 3948-3955.

Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies. Angebault Claire, Guichet Pierre-Olivier, Talmat-Amar Yasmina, Charif Majida, Gerber Sylvie, Fares-Taie Lucas, Gueguen Naig, Halloy François, Moore David, Amati-Bonneau Patrizia, Manes Gael, Hebrard Maxime, Bocquet Béatrice, Quilès Mélanie, Piro-Megy Camille, et al.. 2015. American Journal of Human Genetics, 97 (5) : 754-760.