Résultats pour Auteur : "Charif, Majida"

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy. Piro-Megy Camille, Sarzi Emmanuelle, Tarrés-Solé Aleix, Péquignot Marie, Hensen Fenna, Quilès Mélanie, Manes Gael, Chakraborty Arka, Sénéchal Audrey, Bocquet Béatrice, Cazevieille Chantal, Roubertie Agathe, Müller Agnès, Charif Majida, Goudenège David, Lenaers Guy, Wilhelm Helmut, Kellner Ulrich, Weisschuh Nicole, Wissinger Bernd, Zanlonghi Xavier, Hamel Christian P., Spelbrink Johannes N., Sola Maria, Delettre Cécile. 2020. Journal of Clinical Investigation, 130 (1) : 143-156.

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.