Works matching IS 00016322 AND DT 2020 AND VI 139 AND IP 4

Results: 13
    1
    2

    Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.

    Published in:
    Acta Neuropathologica, 2020, v. 139, n. 4, p. 791, doi. 10.1007/s00401-020-02128-8
    By:
    • AlMuhaizea, Mohammed;
    • AlMass, Rawan;
    • AlHargan, Aljouhra;
    • AlBader, Anoud;
    • Medico Salsench, Eva;
    • Howaidi, Jude;
    • Ihinger, Jacie;
    • Karachunski, Peter;
    • Begtrup, Amber;
    • Segura Castell, Monica;
    • Bauer, Peter;
    • Bertoli-Avella, Aida;
    • Kaya, Ibrahim H.;
    • AlSufayan, Jumanah;
    • AlQuait, Laila;
    • Chedrawi, Aziza;
    • Arold, Stefan T.;
    • Colak, Dilek;
    • Barakat, Tahsin Stefan;
    • Kaya, Namik
    Publication type:
    Article
    3

    Picalm reduction exacerbates tau pathology in a murine tauopathy model.

    Published in:
    Acta Neuropathologica, 2020, v. 139, n. 4, p. 773, doi. 10.1007/s00401-020-02125-x
    By:
    • Ando, Kunie;
    • De Decker, Robert;
    • Vergara, Cristina;
    • Yilmaz, Zehra;
    • Mansour, Salwa;
    • Suain, Valérie;
    • Sleegers, Kristel;
    • de Fisenne, Marie-Ange;
    • Houben, Sarah;
    • Potier, Marie-Claude;
    • Duyckaerts, Charles;
    • Watanabe, Toshio;
    • Buée, Luc;
    • Leroy, Karelle;
    • Brion, Jean-Pierre
    Publication type:
    Article
    4
    5
    6

    Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates.

    Published in:
    Acta Neuropathologica, 2020, v. 139, n. 4, p. 717, doi. 10.1007/s00401-019-02119-4
    By:
    • Ling, Helen;
    • Gelpi, Ellen;
    • Davey, Karen;
    • Jaunmuktane, Zane;
    • Mok, Kin Y.;
    • Jabbari, Edwin;
    • Simone, Roberto;
    • R'Bibo, Lea;
    • Brandner, Sebastian;
    • Ellis, Matthew J.;
    • Attems, Johannes;
    • Mann, David;
    • Halliday, Glenda M.;
    • Al-Sarraj, S.;
    • Hedreen, J.;
    • Ironside, James W.;
    • Kovacs, Gabor G.;
    • Kovari, E.;
    • Love, S.;
    • Vonsattel, Jean Paul G.
    Publication type:
    Article
    7

    Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome.

    Published in:
    Acta Neuropathologica, 2020, v. 139, n. 4, p. 795, doi. 10.1007/s00401-019-02118-5
    By:
    • Sumerauer, David;
    • Krskova, Lenka;
    • Vicha, Ales;
    • Misove, Adela;
    • Mamatjan, Yasin;
    • Jencova, Pavla;
    • Vlckova, Marketa;
    • Slamova, Lucie;
    • Vanova, Katerina;
    • Liby, Petr;
    • Taborsky, Jakub;
    • Koblizek, Miroslav;
    • Klubal, Radek;
    • Kyncl, Martin;
    • Zadeh, Gelareh;
    • Stary, Jan;
    • Zamecnik, Josef;
    • Ramaswamy, Vijay;
    • Zapotocky, Michal
    Publication type:
    Article
    8
    9
    10
    11
    12
    13