Found: 2

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  • A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

    Published in:
    Brain: A Journal of Neurology, 2011, v. 134, n. 2, p. 602, doi. 10.1093/brain/awq329
    By:
    • Valdmanis, Paul N.;
    • Dupré, Nicolas;
    • Lachance, Mathieu;
    • Stochmanski, Shawn J.;
    • Belzil, Veronique V.;
    • Dion, Patrick A.;
    • Thiffault, Isabelle;
    • Brais, Bernard;
    • Weston, Lyle;
    • Saint-Amant, Louis;
    • Samuels, Mark E.;
    • Rouleau, Guy A.
    Publication type:
    Article

  • Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 10, p. 2211, doi. 10.1093/hmg/dds036
    By:
    • Stochmanski, Shawn J.;
    • Therrien, Martine;
    • Laganière, Janet;
    • Rochefort, Daniel;
    • Laurent, Sandra;
    • Karemera, Liliane;
    • Gaudet, Rebecca;
    • Vyboh, Kishanda;
    • Van Meyel, Don J.;
    • Di Cristo, Graziella;
    • Dion, Patrick A.;
    • Gaspar, Claudia;
    • Rouleau, Guy A.
    Publication type:
    Article