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  • Reply: The expanding neurological phenotype of DNM1L-related disorders.

    Published in:
    2018
    By:
    • Gerber, Sylvie;
    • Charif, Majida;
    • Chevrollier, Arnaud;
    • Chaumette, Tanguy;
    • Angebault, Claire;
    • Kane, Selma;
    • Paris, Aurélien;
    • Alban, Jennifer;
    • Quiles, Mélanie;
    • Delettre, Cécile;
    • Bonneau, Dominique;
    • Procaccio, Vincent;
    • Amati-Bonneau, Patrizia;
    • Reynier, Pascal;
    • Leruez, Stéphanie;
    • Calmon, Raphael;
    • Boddaert, Nathalie;
    • Funalot, Benoit;
    • Rio, Marlène;
    • Bouccara, Didier
    Publication type:
    Letter

  • Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

    Published in:
    2017
    By:
    • Gerber, Sylvie;
    • Charif, Majida;
    • Chevrollier, Arnaud;
    • Chaumette, Tanguy;
    • Angebault, Claire;
    • Selma Kane, Mariame;
    • Paris, Aurélien;
    • Alban, Jennifer;
    • Quiles, Mélanie;
    • Delettre, Cécile;
    • Bonneau, Dominique;
    • Procaccio, Vincent;
    • Amati-Bonneau, Patrizia;
    • Reynier, Pascal;
    • Leruez, Stéphanie;
    • Calmon, Raphael;
    • Boddaert, Nathalie;
    • Funalot, Benoit;
    • Rio, Marlène;
    • Bouccara, Didier
    Publication type:
    journal article

  • Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.

    Published in:
    Journal of Cellular & Molecular Medicine, 2017, v. 21, n. 10, p. 2284, doi. 10.1111/jcmm.13149
    By:
    • Kane, Mariame Selma;
    • Alban, Jennifer;
    • Desquiret‐Dumas, Valérie;
    • Gueguen, Naïg;
    • Ishak, Layal;
    • Ferre, Marc;
    • Amati‐Bonneau, Patrizia;
    • Procaccio, Vincent;
    • Bonneau, Dominique;
    • Lenaers, Guy;
    • Reynier, Pascal;
    • Chevrollier, Arnaud
    Publication type:
    Article

  • The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency.

    Published in:
    Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29972-9
    By:
    • Bocca, Cinzia;
    • Kane, Mariame Selma;
    • Veyrat-Durebex, Charlotte;
    • Chupin, Stéphanie;
    • Alban, Jennifer;
    • Kouassi Nzoughet, Judith;
    • Le Mao, Morgane;
    • Chao de la Barca, Juan Manuel;
    • Amati-Bonneau, Patrizia;
    • Bonneau, Dominique;
    • Procaccio, Vincent;
    • Lenaers, Guy;
    • Simard, Gilles;
    • Chevrollier, Arnaud;
    • Reynier, Pascal
    Publication type:
    Article