Works matching DE "FRIEDREICH'S ataxia"

Results: 1191
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    Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L.

    Published in:
    Cerebellum, 2024, v. 23, n. 3, p. 1020, doi. 10.1007/s12311-023-01597-3
    By:
    • Buchholz, Maresa;
    • Weber, Niklas;
    • Rädke, Anika;
    • Faber, Jennifer;
    • Schmitz-Hübsch, Tanja;
    • Jacobi, Heike;
    • Xie, Feng;
    • Klockgether, Thomas;
    • Michalowsky, Bernhard;
    • du Montcel, Sophie Tezenas;
    • Bauer, Peter;
    • Giunti, Paola;
    • Cook, Arron;
    • Labrum, Robyn;
    • Parkinson, Michael H.;
    • Durr, Alexandra;
    • Brice, Alexis;
    • Charles, Perrine;
    • Marelli, Cecilia;
    • Mariotti, Caterina
    Publication type:
    Article
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    Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.

    Published in:
    Cerebellum, 2024, v. 23, n. 3, p. 896, doi. 10.1007/s12311-023-01559-9
    By:
    • Garces, Pilar;
    • Antoniades, Chrystalina A.;
    • Sobanska, Anna;
    • Kovacs, Norbert;
    • Ying, Sarah H.;
    • Gupta, Anoopum S.;
    • Perlman, Susan;
    • Szmulewicz, David J.;
    • Pane, Chiara;
    • Németh, Andrea H.;
    • Jardim, Laura B.;
    • Coarelli, Giulia;
    • Dankova, Michaela;
    • Traschütz, Andreas;
    • Tarnutzer, Alexander A.
    Publication type:
    Article
    33

    Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.

    Published in:
    Cerebellum, 2024, v. 23, n. 2, p. 391, doi. 10.1007/s12311-023-01537-1
    By:
    • Beijer, Danique;
    • Fogel, Brent L.;
    • Beltran, Sergi;
    • Danzi, Matt C.;
    • Németh, Andrea H.;
    • Züchner, Stephan;
    • Synofzik, Matthis;
    • AGI Ataxia NGS genomics, platforms Working Group;
    • Adarmes, Astrid;
    • Alhusaini, Saud;
    • Ashrafi, Mahmoud Reza;
    • Bataller, Luis;
    • Bertini, Enrico;
    • Boesch, Sylvia;
    • Buijsen, Ronald;
    • Cassou, Emanuel;
    • Chan, Edwin;
    • Damásio, Joana;
    • Donis, Karina;
    • Elert-Dobkowska, Ewelina
    Publication type:
    Article
    34

    Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.

    Published in:
    Cerebellum, 2024, v. 23, n. 1, p. 121, doi. 10.1007/s12311-023-01514-8
    By:
    • Garces, Pilar;
    • Antoniades, Chrystalina A.;
    • Sobanska, Anna;
    • Kovacs, Norbert;
    • Ying, Sarah H.;
    • Gupta, Anoopum S.;
    • Perlman, Susan;
    • Szmulewicz, David J.;
    • Pane, Chiara;
    • Németh, Andrea H.;
    • Jardim, Laura B.;
    • Coarelli, Giulia;
    • Dankova, Michaela;
    • Traschütz, Andreas;
    • Tarnutzer, Alexander A.
    Publication type:
    Article
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    AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.

    Published in:
    Cerebellum, 2023, v. 22, n. 6, p. 1313, doi. 10.1007/s12311-022-01497-y
    By:
    • Colucci, Fabiana;
    • Neri, Marcella;
    • Fortunato, Fernanda;
    • Ferlini, Alessandra;
    • Carrozzo, Rosalba;
    • Torraco, Alessandra;
    • Lamantea, Eleonora;
    • Legati, Andrea;
    • Tecilla, Ginevra;
    • Pugliatti, Maura;
    • Sensi, Mariachiara
    Publication type:
    Article
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    An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean.

    Published in:
    Cerebellum, 2023, v. 22, n. 4, p. 708, doi. 10.1007/s12311-022-01442-z
    By:
    • Jardim, Laura Bannach;
    • Hasan, Ali;
    • Kuo, Sheng-han;
    • Magaña, Jonathan Javier;
    • França Jr, Marcondes;
    • Marques Jr, Wilson;
    • Camejo, Claudia;
    • Santana-da-Silva, Luiz Carlos;
    • Leão, Emília Embiruçu;
    • Espíndola, Gisele;
    • Canals, Francisca;
    • Miranda, Marcelo;
    • Salvatierra, Igor;
    • Cornejo-Olivas, Mario;
    • Fernandez-Ruiz, Juan;
    • Braga-Neto, Pedro;
    • Dávila-Ortiz de Montellano, David José;
    • Flores-Lagunes, Luis Leonardo;
    • Dupré, Nicolas;
    • Brais, Bernard
    Publication type:
    Article
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    A Diagnostic Approach to Spastic ataxia Syndromes.

    Published in:
    Cerebellum, 2022, v. 21, n. 6, p. 1073, doi. 10.1007/s12311-021-01345-5
    By:
    • Pedroso, José Luiz;
    • Vale, Thiago Cardoso;
    • França Junior, Marcondes C.;
    • Kauffman, Marcelo A.;
    • Teive, Helio;
    • Barsottini, Orlando Graziani Povoas;
    • Munhoz, Renato Puppi
    Publication type:
    Article
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    Gluten Ataxia: an Overestimated Condition?

    Published in:
    Cerebellum, 2022, v. 21, n. 4, p. 617, doi. 10.1007/s12311-021-01269-0
    By:
    • Meira, Alex Tiburtino;
    • Franklin, Gustavo L.;
    • Ferreira, Matheus G.;
    • Martinez, Alberto R. M.;
    • França Jr, Marcondes C.;
    • Pedroso, José Luiz;
    • Barsottini, Orlando G. P.;
    • Teive, Hélio A. G.
    Publication type:
    Article
    47

    The Cost of Living with Inherited Ataxia in Ireland.

    Published in:
    Cerebellum, 2022, v. 21, n. 2, p. 280, doi. 10.1007/s12311-021-01271-6
    By:
    • Kelly, Mark J.;
    • Bogdanova-Mihaylova, Petya;
    • Skeens, Joshua;
    • Moran, Sharon;
    • Farrelly, Sorcha;
    • Walsh, Richard A.;
    • Murphy, Sinéad M.
    Publication type:
    Article
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