Works matching Sensory ataxia


Results: 439
    1
    2
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12

    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
    13
    14
    15
    16
    17
    18
    19
    20

    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
    21
    22
    23
    24
    25
    26
    27
    28
    29

    Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 154, doi. 10.1002/acn3.661
    By:
    • Otero, Maria G.;
    • Tiongson, Emmanuelle;
    • Diaz, Frank;
    • Haude, Katrina;
    • Panzer, Karin;
    • Collier, Ashley;
    • Kim, Jaemin;
    • Adams, David;
    • Tifft, Cynthia J.;
    • Cui, Hong;
    • Millian Zamora, Francisca;
    • Au, Margaret G.;
    • Graham, John M.;
    • Buckley, David J.;
    • Lewis, Richard;
    • Toro, Camilo;
    • Bai, Renkui;
    • Turner, Lesley;
    • Mathews, Katherine D.;
    • Gahl, William
    Publication type:
    Article
    30

    POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

    Published in:
    Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 4, doi. 10.1002/acn3.361
    By:
    • Van Maldergem, Lionel;
    • Besse, Arnaud;
    • De Paepe, Boel;
    • Blakely, Emma L.;
    • Appadurai, Vivek;
    • Humble, Margaret M.;
    • Piard, Juliette;
    • Craig, Kate;
    • He, Langping;
    • Hella, Pierre;
    • Debray, François‐Guillaume;
    • Martin, Jean‐Jacques;
    • Gaussen, Marion;
    • Laloux, Patrice;
    • Stevanin, Giovanni;
    • Van Coster, Rudy;
    • Taylor, Robert W.;
    • Copeland, William C.;
    • Mormont, Eric;
    • Bonnen, Penelope E.
    Publication type:
    Article
    31
    32

    Sensory Ataxia in Claude’s Syndrome.

    Published in:
    European Neurology, 2001, v. 45, n. 1, p. 54, doi. 10.1159/000052092
    By:
    • Segura, Tomás;
    • Villanueva, Pedro;
    • Puentes, José M.;
    • Zorita, Manuel D.
    Publication type:
    Article
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    44
    45

    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
    46
    47
    48
    49
    50

    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