Résultats pour Auteur : "Manes, Gael"

A dominant mutation inMAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. Meunier Isabelle, Lenaers Guy, Bocquet Béatrice, Baudoin Corinne, Piro-Megy Camille, Cubizolle Aurélie, Quilès Mélanie, Jean-Charles Albert, Cohen Salomon Yves, Merle Harold, Gaudric Alain, Labesse Gilles, Manes Gael, Péquignot Marie, Cazevieille Chantal, Dhaenens Claire-Marie, Fichard Agnès, Ronkina Natalia, Arthur Simon J., Gaestel Matthias, Hamel Christian P.. 2016. Human Molecular Genetics, 25 (5) : 916-926.

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.