Works about SPINOCEREBELLAR ataxia

Results: 1766
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    Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.

    Published in:
    Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad239
    By:
    • Ashton, Catherine;
    • Indelicato, Elisabetta;
    • Pellerin, David;
    • Clément, Guillemette;
    • Danzi, Matt C.;
    • Dicaire, Marie-Josée;
    • Bonnet, Céline;
    • Houlden, Henry;
    • Züchner, Stephan;
    • Synofzik, Matthis;
    • Lamont, Phillipa J.;
    • Renaud, Mathilde;
    • Boesch, Sylvia;
    • Brais, Bernard
    Publication type:
    Article
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    Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.

    Published in:
    Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
    By:
    • Alabdulrazzaq, Fatima;
    • Alanzi, Talal;
    • Al‐Balool, Haya H.;
    • Gardham, Alice;
    • Wakeling, Emma;
    • Leitch, Harry G.;
    • AlSayed, Moeenaldeen;
    • Abdulrahim, Maha;
    • Aladwani, Abdulaziz;
    • Romito, Antonio;
    • Kampe, Kapil;
    • Ferdinandusse, Sacha;
    • Aboelanine, Ashraf H.;
    • Abdullah, Amira;
    • Alwadani, Amal;
    • Bastaki, Laila;
    • Vaz, Frédéric M.;
    • Bertoli‐Avella, Aida M.;
    • Marafi, Dana
    Publication type:
    Article
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    Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36654-8
    By:
    • Bonnet, Céline;
    • Pellerin, David;
    • Roth, Virginie;
    • Clément, Guillemette;
    • Wandzel, Marion;
    • Lambert, Laëtitia;
    • Frismand, Solène;
    • Douarinou, Marian;
    • Grosset, Anais;
    • Bekkour, Ines;
    • Weber, Frédéric;
    • Girardier, Florent;
    • Robin, Clément;
    • Cacciatore, Stéphanie;
    • Bronner, Myriam;
    • Pourié, Carine;
    • Dreumont, Natacha;
    • Puisieux, Salomé;
    • Iruzubieta, Pablo;
    • Dicaire, Marie-Josée
    Publication type:
    Article
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    Balance and physical functioning in Spinocerebellar ataxias 3 and 10.

    Published in:
    Acta Neurologica Scandinavica, 2021, v. 143, n. 4, p. 458, doi. 10.1111/ane.13384
    By:
    • Konno, Katia M.;
    • Zonta, Marise Bueno;
    • Guimarães, Ana T. B.;
    • Camargo, Carlos Henrique F.;
    • Munhoz, Renato Puppi;
    • Raskin, Salmo;
    • Ashizawa, Tetsuo;
    • Teive, Helio A. G.
    Publication type:
    Article
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