Works by Scalais, Emmanuel

Results: 10
    1

    Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

    Published in:
    EMBO Molecular Medicine, 2017, v. 9, n. 1, p. 96, doi. 10.15252/emmm.201606356
    By:
    • Ziosi, Marcello;
    • Di Meo, Ivano;
    • Kleiner, Giulio;
    • Gao, Xing‐Huang;
    • Barca, Emanuele;
    • Sanchez‐Quintero, Maria J;
    • Tadesse, Saba;
    • Jiang, Hongfeng;
    • Qiao, Changhong;
    • Rodenburg, Richard J;
    • Scalais, Emmanuel;
    • Schuelke, Markus;
    • Willard, Belinda;
    • Hatzoglou, Maria;
    • Tiranti, Valeria;
    • Quinzii, Catarina M
    Publication type:
    Article
    2

    Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

    Published in:
    Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513
    By:
    • Papadopoulou, Lefkothea C.;
    • Sue, Carolyn M.;
    • Davidson, Mercy M.;
    • Tanji, Kurenai;
    • Nishino, Ichizo;
    • Sadlock, James E.;
    • Krishna, Sindu;
    • Walker, Winsome;
    • Selby, Jeanette;
    • Glerum, D. Moira;
    • Coster, Rudy Van;
    • Lyon, Gilles;
    • Scalais, Emmanuel;
    • Lebel, Roger;
    • Kaplan, Paige;
    • Shanske, Sara;
    • De Vivo, Darryl C.;
    • Bonilla, Eduardo;
    • Hirano, Michio
    Publication type:
    Article
    3
    4

    Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function.

    Published in:
    Human Mutation, 2018, v. 39, n. 8, p. 1076, doi. 10.1002/humu.23554
    By:
    • Ruaud, Lyse;
    • Rice, Gillian I.;
    • Cabrol, Christelle;
    • Piard, Juliette;
    • Rodero, Mathieu;
    • van Eyk, Lien;
    • Boucher‐Brischoux, Elise;
    • de Noordhout, Alain Maertens;
    • Maré, Ricardo;
    • Scalais, Emmanuel;
    • Pauly, Fernand;
    • Debray, François‐Guillaume;
    • Dobyns, William;
    • Uggenti, Carolina;
    • Park, Ji Woo;
    • Hur, Sun;
    • Livingston, John H.;
    • Crow, Yanick J.;
    • Van Maldergem, Lionel
    Publication type:
    Article
    5
    6

    Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 70, doi. 10.1002/jmd2.12055
    By:
    • Scalais, Emmanuel;
    • Osterheld, Elise;
    • Geron, Christine;
    • Pierron, Charlotte;
    • Chafai, Ronit;
    • Schlesser, Vincent;
    • Borde, Patricia;
    • Regal, Luc;
    • Laeremans, Hilde;
    • Gassen, Koen L. I.;
    • Heuvel, L. Bert;
    • De Meirleir, Linda
    Publication type:
    Article
    7

    Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1799, doi. 10.1002/ajmg.a.37673
    By:
    • Scalais, Emmanuel;
    • Connerotte, Anne‐Catherine;
    • Despontin, Karine;
    • Biver, Armand;
    • Ceuterick‐de Groote, Chantal;
    • Alders, Marielle;
    • Kolivras, Athanassios;
    • Hachem, Jean‐Pierre;
    • De Meirleir, Linda
    Publication type:
    Article
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