Works matching Ataxia

Results: 5000
    1

    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
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    Taxonomía de las ataxias. Algoritmo de la falta de ritmo.

    Published in:
    Archivos de Neurociencias, 2016, v. 21, n. 3, p. 6, doi. 10.31157/archneurosciencesmex.v21i3.122
    By:
    • Boll Woehrlen, Marie Catherine;
    • Rodríguez Ibarra, Sarait Nadja;
    • Ochoa, Adriana;
    • Martínez Ruano, Leticia;
    • Rodríguez Ortiz, Ulises
    Publication type:
    Article
    5

    Taxonomía de las ataxias. Algoritmo de la falta de ritmo.

    Published in:
    Archivos de Neurociencias, 2016, v. 21, n. 3, p. 1, doi. 10.31157/archneurosciencesmex.v21i3.122
    By:
    • Boll Woehrlen, Marie Catherine;
    • Rodríguez Ibarra, Sarait Nadja;
    • Ochoa, Adriana;
    • Martínez Ruano, Leticia;
    • Rodríguez Ortiz, Ulises
    Publication type:
    Article
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    Onset features and time to diagnosis in Friedreich's Ataxia.

    Published in:
    2020
    By:
    • Indelicato, Elisabetta;
    • Nachbauer, Wolfgang;
    • Eigentler, Andreas;
    • Amprosi, Matthias;
    • Matteucci Gothe, Raffaella;
    • Giunti, Paola;
    • Mariotti, Caterina;
    • Arpa, Javier;
    • Durr, Alexandra;
    • Klopstock, Thomas;
    • Schöls, Ludger;
    • Giordano, Ilaria;
    • Bürk, Katrin;
    • Pandolfo, Massimo;
    • Didszdun, Claire;
    • Schulz, Jörg B.;
    • Boesch, Sylvia;
    • EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies)
    Publication type:
    journal article
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    Ataxia espinocerebelosa tipo 2.

    Published in:
    Archivos de Neurociencias, 2016, v. 21, n. 1, p. 73, doi. 10.31157/archneurosciencesmex.v21i1.113
    By:
    • Martínez Guerrero, Jesús;
    • Paz Gutiérrez, Jorge;
    • Vega Gaxiola, Selene Berenice
    Publication type:
    Article
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    SPINOCEREBELLAR ATAXIA TYPE 6: A CASE REPORT.

    Published in:
    2014
    By:
    • Zeigelboim, Bianca Simone;
    • de Carvalho, Hugo Amilton Santos;
    • Jurkiewicz, Ari Leon;
    • Faryniuk, João Henrique;
    • Ghizoni Teive, Hélio Afonso;
    • da Silva Abdulmassih, Edna Márcia
    Publication type:
    Case Study
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    Disprosodia en ataxia.

    Published in:
    Revista Mexicana de Neurociencia, 2007, v. 8, n. 6, p. 526
    By:
    • Aguiar Rodríguez Anubis;
    • de la Fe Amado, Díaz;
    • Márquez Roberto, Díaz;
    • Teresa, Morgado Vega
    Publication type:
    Article
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    Ataxia cerebelosa: caso clínico.

    Published in:
    Religación: Revista de Ciencias Sociales y Humanidades, 2024, v. 9, n. 42, p. 1, doi. 10.46652/rgn.v9i42.1296
    By:
    • Gonzalez, Paola;
    • Mesa Cano, Isabel Cristina;
    • Moyano, Edison
    Publication type:
    Article
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    Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.

    Published in:
    Neurological Sciences, 2024, v. 45, n. 6, p. 2877, doi. 10.1007/s10072-024-07453-4
    By:
    • Grassini, Alberto;
    • Cermelli, Aurora;
    • Roveta, Fausto;
    • Zotta, Michela;
    • Lesca, Adriana;
    • Marcinnò, Andrea;
    • Ferrandes, Fabio;
    • Piella, Elisa;
    • Boschi, Silvia;
    • Lombardo, Chiara;
    • Brusco, Alfredo;
    • Gallone, Salvatore;
    • Rubino, Elisa;
    • Bruni, Amalia;
    • Rainero, Innocenzo
    Publication type:
    Article
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    Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia.

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 12, p. 3828, doi. 10.1111/ene.16039
    By:
    • Iruzubieta, Pablo;
    • Pellerin, David;
    • Bergareche, Alberto;
    • Albajar, Inés;
    • Mondragón, Elisabet;
    • Vinagre, Ana;
    • Fernández‐Torrón, Roberto;
    • Moreno, Fermín;
    • Equiza, Jon;
    • Campo‐Caballero, David;
    • Poza, Juan José;
    • Ruibal, Marta;
    • Formica, Alessandro;
    • Dicaire, Marie‐Josée;
    • Danzi, Matt C.;
    • Zuchner, Stephan;
    • Croitoru, Ioana;
    • Ruiz, Montserrat;
    • Schlüter, Agatha;
    • Casasnovas, Carlos
    Publication type:
    Article
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    Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia.

    Published in:
    Neurology & Therapy, 2025, v. 14, n. 2, p. 547, doi. 10.1007/s40120-024-00704-8
    By:
    • Potashman, Michele;
    • Rudell, Katja;
    • Suminski, Naomi;
    • Doma, Rinchen;
    • Heinrich, Maggie;
    • Abetz-Webb, Linda;
    • Beiner, Melissa Wolfe;
    • Coric, Vlad;
    • Rosenthal, Liana S.;
    • Kuo, Sheng-Han;
    • Zesiewicz, Theresa;
    • Fife, Terry D.;
    • van de Warrenburg, Bart;
    • Ristori, Giovanni;
    • Synofzik, Matthis;
    • Subramony, Sub;
    • Perlman, Susan;
    • Schmahmann, Jeremy D.;
    • L'Italien, Gil
    Publication type:
    Article
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    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

    Published in:
    2017
    By:
    • Zambonin, Jessica L.;
    • Bellomo, Allison;
    • Hilla Ben-Pazi;
    • Everman, David B.;
    • Frazer, Lee M.;
    • Geraghty, Michael T.;
    • Harper, Amy D.;
    • Jones, Julie R.;
    • Kamien, Benjamin;
    • Kernohan, Kristin;
    • Koenig, Mary Kay;
    • Lines, Matthew;
    • Palmer, Elizabeth Emma;
    • Richardson, Randal;
    • Segel, Reeval;
    • Tarnopolsky, Mark;
    • Vanstone, Jason R.;
    • Gibbons, Melissa;
    • Collins, Abigail;
    • Fogel, Brent L.
    Publication type:
    journal article
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