Works matching DE "HEREDITARY central nervous system demyelinating diseases"


Results: 42
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    Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

    Published in:
    2021
    By:
    • Salter, Claire G;
    • Cai, Yiying;
    • Lo, Bernice;
    • Helman, Guy;
    • Taylor, Henry;
    • McCartney, Amber;
    • Leslie, Joseph S;
    • Accogli, Andrea;
    • Zara, Federico;
    • Traverso, Monica;
    • Fasham, James;
    • Lees, Joshua A;
    • Ferla, Matteo P;
    • Chioza, Barry A;
    • Wenger, Olivia;
    • Scott, Ethan;
    • Cross, Harold E;
    • Crawford, Joanna;
    • Warshawsky, Ilka;
    • Keisling, Matthew
    Publication type:
    journal article
    11

    Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

    Published in:
    2021
    By:
    • Verdura, Edgard;
    • Rodríguez-Palmero, Agustí;
    • Vélez-Santamaria, Valentina;
    • Planas-Serra, Laura;
    • de la Calle, Irene;
    • Raspall-Chaure, Miquel;
    • Roubertie, Agathe;
    • Benkirane, Mehdi;
    • Saettini, Francesco;
    • Pavinato, Lisa;
    • Mandrile, Giorgia;
    • O'Leary, Melanie;
    • O'Heir, Emily;
    • Barredo, Estibaliz;
    • Chacón, Almudena;
    • Michaud, Vincent;
    • Goizet, Cyril;
    • Ruiz, Montserrat;
    • Schlüter, Agatha;
    • Rouvet, Isabelle
    Publication type:
    journal article
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    From The Archives.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 688, doi. 10.1093/brain/awt050
    By:
    • Compston, Alastair
    Publication type:
    Article
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    Clinical spectrum and IgG subclass analysis of anti-myelin oligodendrocyte glycoprotein antibody-associated syndromes: a multicenter study.

    Published in:
    Journal of Neurology, 2017, v. 264, n. 12, p. 2420, doi. 10.1007/s00415-017-8635-4
    By:
    • Mariotto, Sara;
    • Ferrari, Sergio;
    • Monaco, Salvatore;
    • Benedetti, Maria;
    • Schanda, Kathrin;
    • Alberti, Daniela;
    • Farinazzo, Alessia;
    • Capra, Ruggero;
    • Mancinelli, Chiara;
    • Rossi, Nicola;
    • Bombardi, Roberto;
    • Zuliani, Luigi;
    • Zoccarato, Marco;
    • Tanel, Raffaella;
    • Bonora, Adriana;
    • Turatti, Marco;
    • Calabrese, Massimiliano;
    • Polo, Alberto;
    • Pavone, Antonino;
    • Grazian, Luisa
    Publication type:
    Article
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