Works matching IS 00016322 AND DT 2019 AND VI 137 AND IP 3


Results: 11
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    ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

    Published in:
    Acta Neuropathologica, 2019, v. 137, n. 3, p. 501, doi. 10.1007/s00401-019-01963-8
    By:
    • Lornage, Xavière;
    • Romero, Norma B.;
    • Grosgogeat, Claire A.;
    • Malfatti, Edoardo;
    • Donkervoort, Sandra;
    • Marchetti, Michael M.;
    • Neuhaus, Sarah B.;
    • Foley, A. Reghan;
    • Labasse, Clémence;
    • Schneider, Raphaël;
    • Carlier, Robert Y.;
    • Chao, Katherine R.;
    • Medne, Livija;
    • Deleuze, Jean-François;
    • Orlikowski, David;
    • Bönnemann, Carsten G.;
    • Gupta, Vandana A.;
    • Fardeau, Michel;
    • Böhm, Johann;
    • Laporte, Jocelyn
    Publication type:
    Article
    3
    4

    Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1.

    Published in:
    Acta Neuropathologica, 2019, v. 137, n. 3, p. 521, doi. 10.1007/s00401-019-01960-x
    By:
    • Lee, Julieann C.;
    • Villanueva-Meyer, Javier E.;
    • Ferris, Sean P.;
    • Sloan, Emily A.;
    • Hofmann, Jeffrey W.;
    • Hattab, Eyas M.;
    • Williams, Brian J.;
    • Guo, Hua;
    • Torkildson, Joseph;
    • Florez, Adriana;
    • Van Ziffle, Jessica;
    • Onodera, Courtney;
    • Grenert, James P.;
    • Cho, Soo-Jin;
    • Horvai, Andrew E.;
    • Jones, David T. W.;
    • Pfister, Stefan M.;
    • Koelsche, Christian;
    • von Deimling, Andreas;
    • Korshunov, Andrey
    Publication type:
    Article
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    10

    C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A.

    Published in:
    Acta Neuropathologica, 2019, v. 137, n. 3, p. 487, doi. 10.1007/s00401-018-1946-4
    By:
    • Moens, Thomas G.;
    • Niccoli, Teresa;
    • Wilson, Katherine M.;
    • Atilano, Magda L.;
    • Birsa, Nicol;
    • Gittings, Lauren M.;
    • Holbling, Benedikt V.;
    • Dyson, Miranda C.;
    • Thoeng, Annora;
    • Neeves, Jacob;
    • Glaria, Idoia;
    • Yu, Lu;
    • Bussmann, Julia;
    • Storkebaum, Erik;
    • Pardo, Mercedes;
    • Choudhary, Jyoti S.;
    • Fratta, Pietro;
    • Partridge, Linda;
    • Isaacs, Adrian M.
    Publication type:
    Article
    11