Found: 3

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  • ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 18, p. 3690, doi. 10.1093/hmg/ddt222
    By:
    • Groen, Ewout J.N.;
    • Fumoto, Katsumi;
    • Blokhuis, Anna M.;
    • Engelen-Lee, JooYeon;
    • Zhou, Yeping;
    • van den Heuvel, Dianne M.A.;
    • Koppers, Max;
    • van Diggelen, Femke;
    • van Heest, Jessica;
    • Demmers, Jeroen A.A.;
    • Kirby, Janine;
    • Shaw, Pamela J.;
    • Aronica, Eleonora;
    • Spliet, Wim G.M.;
    • Veldink, Jan H.;
    • van den Berg, Leonard H.;
    • Pasterkamp, R. Jeroen
    Publication type:
    Article

  • C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.

    Published in:
    Annals of Neurology, 2015, v. 78, n. 3, p. 426, doi. 10.1002/ana.24453
    By:
    • Koppers, Max;
    • Blokhuis, Anna M.;
    • Westeneng, Henk ‐ Jan;
    • Terpstra, Margo L.;
    • Zundel, Caroline A. C.;
    • Vieira de Sá, Renata;
    • Schellevis, Raymond D.;
    • Waite, Adrian J.;
    • Blake, Derek J.;
    • Veldink, Jan H.;
    • van den Berg, Leonard H.;
    • Pasterkamp, R. Jeroen
    Publication type:
    Article

  • The socioeconomic burden of facioscapulohumeral muscular dystrophy.

    Published in:
    Journal of Neurology, 2021, v. 268, n. 12, p. 4778, doi. 10.1007/s00415-021-10591-w
    By:
    • Blokhuis, Anna M.;
    • Deenen, Johanna C. W.;
    • Voermans, Nicol C.;
    • van Engelen, Baziel G. M.;
    • Kievit, Wietske;
    • Groothuis, Jan T.
    Publication type:
    Article