Works matching Spinocerebellar ataxia

Results: 3645
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    Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.

    Published in:
    Cerebellum, 2020, v. 19, n. 3, p. 446, doi. 10.1007/s12311-020-01109-7
    By:
    • Rodríguez-Labrada, Roberto;
    • Martins, Ana Carolina;
    • Magaña, Jonathan J.;
    • Vazquez-Mojena, Yaimeé;
    • Medrano-Montero, Jacqueline;
    • Fernandez-Ruíz, Juan;
    • Cisneros, Bulmaro;
    • Teive, Helio;
    • McFarland, Karen N.;
    • Saraiva-Pereira, Maria Luiza;
    • Cerecedo-Zapata, César M.;
    • Gomez, Christopher M.;
    • Ashizawa, Tetsuo;
    • Velázquez-Pérez, Luis;
    • Jardim, Laura Bannach
    Publication type:
    Article
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    Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.

    Published in:
    European Journal of Neurology, 2017, v. 24, n. 7, p. 892, doi. 10.1111/ene.13281
    By:
    • Gheno, T. C.;
    • Furtado, G. V.;
    • Saute, J. A. M.;
    • Donis, K. C.;
    • Fontanari, A. M. V.;
    • Emmel, V. E.;
    • Pedroso, J. L.;
    • Barsottini, O.;
    • Godeiro ‐ Junior, C.;
    • Linden, H.;
    • Ternes Pereira, E.;
    • Cintra, V. P.;
    • Marques, W.;
    • Castilhos, R. M.;
    • Alonso, I.;
    • Sequeiros, J.;
    • Cornejo ‐ Olivas, M.;
    • Mazzetti, P.;
    • Leotti, V. B.;
    • Jardim, L. B.
    Publication type:
    Article
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    Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.

    Published in:
    Clinical Autonomic Research, 2021, v. 31, n. 1, p. 117, doi. 10.1007/s10286-020-00759-1
    By:
    • Wernick, Anna I.;
    • Walton, Ronald L.;
    • Soto-Beasley, Alexandra I.;
    • Koga, Shunsuke;
    • Heckman, Michael G.;
    • Valentino, Rebecca R.;
    • Milanowski, Lukasz M.;
    • Hoffman-Zacharska, Dorota;
    • Koziorowski, Dariusz;
    • Hassan, Anhar;
    • Uitti, Ryan J.;
    • Cheshire, William P.;
    • Singer, Wolfgang;
    • Wszolek, Zbigniew K.;
    • Dickson, Dennis W.;
    • Low, Phillip A.;
    • Ross, Owen A.
    Publication type:
    Article
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    Schwann cell involvement in the peripheral neuropathy of spinocerebellar ataxia type 3.

    Published in:
    Neuropathology & Applied Neurobiology, 2014, v. 40, n. 5, p. 628, doi. 10.1111/nan.12055
    By:
    • Suga, Noriaki;
    • Katsuno, Masahisa;
    • Koike, Haruki;
    • Banno, Haruhiko;
    • Suzuki, Keisuke;
    • Hashizume, Atsushi;
    • Mano, Tomoo;
    • Iijima, Masahiro;
    • Kawagashira, Yuichi;
    • Hirayama, Masaaki;
    • Nakamura, Tomohiko;
    • Watanabe, Hirohisa;
    • Tanaka, Fumiaki;
    • Sobue, Gen
    Publication type:
    Article
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    The progression rate of spinocerebellar ataxia type 2 changes with stage of disease.

    Published in:
    2018
    By:
    • Monte, Thais Lampert;
    • Reckziegel, Estela da Rosa;
    • Augustin, Marina Coutinho;
    • Locks-Coelho, Lucas D.;
    • Santos, Amanda Senna P.;
    • Furtado, Gabriel Vasata;
    • de Mattos, Eduardo Preusser;
    • Pedroso, José Luiz;
    • Barsottini, Orlando Póvoas;
    • Vargas, Fernando Regla;
    • Saraiva-Pereira, Maria-Luiza;
    • Camey, Suzi Alves;
    • Leotti, Vanessa Bielefeldt;
    • Jardim, Laura Bannach;
    • Rede Neurogenética
    Publication type:
    journal article
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    Epidemiology of Spinocerebellar Ataxias in Europe.

    Published in:
    Cerebellum, 2024, v. 23, n. 3, p. 1176, doi. 10.1007/s12311-023-01600-x
    By:
    • De Mattei, Filippo;
    • Ferrandes, Fabio;
    • Gallone, Salvatore;
    • Canosa, Antonio;
    • Calvo, Andrea;
    • Chiò, Adriano;
    • Vasta, Rosario
    Publication type:
    Article
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    Comparison of Two Therapeutic Approaches of Cerebellar Transcranial Direct Current Stimulation in a Sardinian Family Affected by Spinocerebellar Ataxia 38: a Clinical and Computerized 3D Gait Analysis Study.

    Published in:
    Cerebellum, 2024, v. 23, n. 3, p. 973, doi. 10.1007/s12311-023-01590-w
    By:
    • Sanna, Angela;
    • Pau, Massimiliano;
    • Pilia, Giuseppina;
    • Porta, Micaela;
    • Casu, Giulia;
    • Secci, Valentina;
    • Cartella, Emanuele;
    • Demattia, Alessandro;
    • Firinu, Stefano;
    • Pau, Chiara;
    • Milia, Antonio;
    • Cocco, Eleonora;
    • Tacconi, Paolo
    Publication type:
    Article
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    SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.

    Published in:
    Cerebellum, 2024, v. 23, n. 3, p. 887, doi. 10.1007/s12311-023-01546-0
    By:
    • Uebachs, Mischa;
    • Wegner, Philipp;
    • Schaaf, Sebastian;
    • Kugai, Simon;
    • Jacobi, Heike;
    • Kuo, Sheng-Han;
    • Ashizawa, Tetsuo;
    • Fluck, Juliane;
    • 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;
    • Nanetti, Lorenzo
    Publication type:
    Article
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    Neurochemical Differences in Spinocerebellar Ataxia Type 14 and 1.

    Published in:
    Cerebellum, 2021, v. 20, n. 2, p. 169, doi. 10.1007/s12311-020-01201-y
    By:
    • Grosch, Anne Sophie;
    • Rinnenthal, Jan Leo;
    • Rönnefarth, Maria;
    • Lux, Silke;
    • Scheel, Michael;
    • Endres, Matthias;
    • Brandt, Alexander U.;
    • Paul, Friedemann;
    • Schmitz-Hübsch, Tanja;
    • Minnerop, Martina;
    • Doss, Sarah
    Publication type:
    Article
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    Effects of Physical Rehabilitation in Patients with Spinocerebellar Ataxia Type 7.

    Published in:
    Cerebellum, 2019, v. 18, n. 3, p. 397, doi. 10.1007/s12311-019-1006-1
    By:
    • Tercero-Pérez, Karla;
    • Cortés, Hernán;
    • Torres-Ramos, Yessica;
    • Rodríguez-Labrada, Roberto;
    • Cerecedo-Zapata, César M.;
    • Hernández-Hernández, Oscar;
    • Pérez-González, Nelson;
    • González-Piña, Rigoberto;
    • Leyva-García, Norberto;
    • Cisneros, Bulmaro;
    • Velázquez-Pérez, Luis;
    • Magaña, Jonathan J.
    Publication type:
    Article
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    Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings.

    Published in:
    Cerebellum, 2012, v. 11, n. 1, p. 155, doi. 10.1007/s12311-011-0292-z
    By:
    • Jacobi, Heike;
    • Hauser, Till-Karsten;
    • Giunti, Paola;
    • Globas, Christoph;
    • Bauer, Peter;
    • Schmitz-Hübsch, Tanja;
    • Baliko, László;
    • Filla, Alessandro;
    • Mariotti, Caterina;
    • Rakowicz, Maria;
    • Charles, Perine;
    • Ribai, Pascale;
    • Szymanski, Sandra;
    • Infante, Jon;
    • Warrenburg, Bart;
    • Dürr, Alexandra;
    • Timmann, Dagmar;
    • Boesch, Sylvia;
    • Fancellu, Roberto;
    • Rola, Rafal
    Publication type:
    Article
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    Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

    Published in:
    2017
    By:
    • Nibbeling, Esther A. R.;
    • Duarri, Anna;
    • Verschuuren-Bemelmans, Corien C.;
    • Fokkens, Michiel R.;
    • Karjalainen, Juha M.;
    • Smeets, Cleo J. L. M.;
    • de Boer-Bergsma, Jelkje J.;
    • van der Vries, Gerben;
    • Dooijes, Dennis;
    • Bampi, Giovana B.;
    • Diemen, Cleo van;
    • Brunt, Ewout;
    • Ippel, Elly;
    • Kremer, Berry;
    • Vlak, Monique;
    • Adir, Noam;
    • Wijmenga, Cisca;
    • van de Warrenburg, Bart P. C.;
    • Franke, Lude;
    • Sinke, Richard J.
    Publication type:
    journal article
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    TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. 2657, doi. 10.1093/brain/awu202
    By:
    • Delplanque, Jérôme;
    • Devos, David;
    • Huin, Vincent;
    • Genet, Alexandre;
    • Sand, Olivier;
    • Moreau, Caroline;
    • Goizet, Cyril;
    • Charles, Perrine;
    • Anheim, Mathieu;
    • Monin, Marie Lorraine;
    • Buée, Luc;
    • Destée, Alain;
    • Grolez, Guillaume;
    • Delmaire, Christine;
    • Dujardin, Kathy;
    • Dellacherie, Delphine;
    • Brice, Alexis;
    • Stevanin, Giovanni;
    • Strubi-Vuillaume, Isabelle;
    • Dürr, Alexandra
    Publication type:
    Article
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    Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2444, doi. 10.1093/brain/awu174
    By:
    • Tezenas du Montcel, Sophie;
    • Durr, Alexandra;
    • Bauer, Peter;
    • Figueroa, Karla P.;
    • Ichikawa, Yaeko;
    • Brussino, Alessandro;
    • Forlani, Sylvie;
    • Rakowicz, Maria;
    • Schöls, Ludger;
    • Mariotti, Caterina;
    • van de Warrenburg, Bart P.C.;
    • Orsi, Laura;
    • Giunti, Paola;
    • Filla, Alessandro;
    • Szymanski, Sandra;
    • Klockgether, Thomas;
    • Berciano, José;
    • Pandolfo, Massimo;
    • Boesch, Sylvia;
    • Melegh, Bela
    Publication type:
    Article
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    ‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 5, p. 1423, doi. 10.1093/brain/aws069
    By:
    • García-Murias, María;
    • Quintáns, Beatriz;
    • Arias, Manuel;
    • Seixas, Ana I.;
    • Cacheiro, Pilar;
    • Tarrío, Rosa;
    • Pardo, Julio;
    • Millán, María J.;
    • Arias-Rivas, Susana;
    • Blanco-Arias, Patricia;
    • Dapena, Dolores;
    • Moreira, Ramón;
    • Rodríguez-Trelles, Francisco;
    • Sequeiros, Jorge;
    • Carracedo, Ángel;
    • Silveira, Isabel;
    • Sobrido, María J.
    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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    Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-177
    By:
    • Ashizawa, Tetsuo;
    • Figueroa, Karla P.;
    • Perlman, Susan L.;
    • Gomez, Christopher M.;
    • Wilmot, George R.;
    • Schmahmann, Jeremy D.;
    • Ying, Sarah H.;
    • Zesiewicz, Theresa A.;
    • Paulson, Henry L.;
    • Shakkottai, Vikram G.;
    • Bushara, Khalaf O.;
    • Kuo, Sheng-Han;
    • Geschwind, Michael D.;
    • Xia, Guangbin;
    • Mazzoni, Pietro;
    • Krischer, Jeffrey P.;
    • Cuthbertson, David;
    • Holbert, Amy Roberts;
    • Ferguson, John H.;
    • Pulst, Stefan M.
    Publication type:
    Article
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    Preclinical Assessment of Mesenchymal-Stem-Cell-Based Therapies in Spinocerebellar Ataxia Type 3.

    Published in:
    Biomedicines, 2021, v. 9, n. 12, p. 1754, doi. 10.3390/biomedicines9121754
    By:
    • Correia, Joana Sofia;
    • Neves-Carvalho, Andreia;
    • Mendes-Pinheiro, Bárbara;
    • Pires, Joel;
    • Teixeira, Fábio Gabriel;
    • Lima, Rui;
    • Monteiro, Susana;
    • Silva, Nuno André;
    • Soares-Cunha, Carina;
    • Serra, Sofia Cravino;
    • Duarte-Silva, Sara;
    • Teixeira-Castro, Andreia;
    • Salgado, António José;
    • Maciel, Patrícia
    Publication type:
    Article