Works matching DE "SENSORY ataxia"


Results: 39
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    Pseudodominance in RFC1-Spectrum Disorder.

    Published in:
    Cerebellum, 2024, v. 23, n. 6, p. 2622, doi. 10.1007/s12311-024-01735-5
    By:
    • Falcone, Grazia Maria Igea;
    • Tessa, Alessandra;
    • Arena, Ignazio Giuseppe;
    • Barghigiani, Melissa;
    • Migliorato, Alba;
    • Incensi, Alex;
    • Rodolico, Carmelo;
    • Donadio, Vincenzo;
    • Santorelli, Filippo Maria;
    • Musumeci, Olimpia
    Publication type:
    Article
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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
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    Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.

    Published in:
    European Journal of Neurology, 2025, v. 32, n. 2, p. 1, doi. 10.1111/ene.70064
    By:
    • Haddad, Saif;
    • Record, Christopher J.;
    • Self, Eleanor;
    • Skorupinska, Mariola;
    • Rossor, Alexander M.;
    • Laura, Matilde;
    • Ingle, Gordon;
    • Manzur, Adnan;
    • Muntoni, Francesco;
    • Blake, Julian C.;
    • Reilly, Mary M.
    Publication type:
    Article
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    Useless Hand (of Oppenheim) Syndrome.

    Published in:
    Canadian Journal of Neurological Sciences, 2025, v. 52, n. 1, p. 166, doi. 10.1017/cjn.2024.28
    By:
    • Al Kharbooshi, Jihad;
    • Climans, Seth
    Publication type:
    Article
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    Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.

    Published in:
    Journal of Neurology, 2024, v. 271, n. 8, p. 4982, doi. 10.1007/s00415-024-12410-4
    By:
    • Coly, Martin;
    • Adams, David;
    • Attarian, Shahram;
    • Bouhour, Françoise;
    • Camdessanché, Jean-Philippe;
    • Carey, Guillaume;
    • Cauquil, Cécile;
    • Chanson, Jean-Baptiste;
    • Chrétien, Pascale;
    • Créange, Alain;
    • Delmont, Emilien;
    • Fargeot, Guillaume;
    • Frachet, Simon;
    • Gendre, Thierry;
    • Kuntzer, Thierry;
    • Labeyrie, Céline;
    • Maisonobe, Thierry;
    • Michaud, Maud;
    • Moulin, Maximilien;
    • Nicolas, Guillaume
    Publication type:
    Article
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