Zobrazeno 1 - 5
of 5
pro vyhledávání: '"psychology [Spinocerebellar Ataxias]"'
Autor:
Sebastian Contreras Cubillos, Roberto Rodríguez-Labrada, Matthis Synofzik, Tamara Canento, Winfried Ilg, Jacqueline Medrano-Montero, Yaimeé Vázquez-Mojena, Sandra Rojas, Luis Velázquez-Pérez, Melissa P. Cyngler, Fernanda Maldonado, Reidenis Torres-Vega, Megan Kruse, Michelle Magee, Adam P. Vogel
Publikováno v:
Neurology 95(2), e194-e205 (2020). doi:10.1212/WNL.0000000000009776
ObjectiveTo determine whether objective and quantitative assessment of dysarthria and dysphagia in spinocerebellar ataxia type 2 (SCA2), specifically at pre-ataxic and early disease phases, can act as sensitive disease markers.MethodsForty-six indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d9e92e7d850a0306866ec288f2d1780
https://doi.org/10.1212/wnl.0000000000009776
https://doi.org/10.1212/wnl.0000000000009776
Autor:
Paola Giunti, Sophie Tezenas du Montcel, Alessandro Filla, Anna Sulek, Massimo Pandolfo, Caterina Mariotti, Alhassane Diallo, Sylvia Boesch, Dagmar Timmann, Bart P.C. van de Warrenburg, Lidia Sarro, Peter Bauer, Perrine Charles, Maria Rakowicz, Jun Suk Kang, Robyn Labrum, Tanja Schmitz-Hübsch, Cecila Marelli, Jörg B. Schulz, Lorenzo Nanetti, Holger Hengel, Alexis Brice, Laszlo Baliko, Thomas Klockgether, Ludger Schöls, Wolfgang Nachbauer, Michael H Parkinson, Sandra Szymanski, Béla Melegh, Arron Cook, Heike Jacobi, Jon Infante, Antonella Antenora, Anna Sobanska, Audrey Tanguy Melac, Alexandra Durr, José Berciano
Publikováno v:
Journal of Neurology, 265, 2040-2051
Journal of Neurology, 265, 9, pp. 2040-2051
Journal of neurology 265(9), 2040-2051 (2018). doi:10.1007/s00415-018-8954-0
Journal of Neurology, 265, 9, pp. 2040-2051
Journal of neurology 265(9), 2040-2051 (2018). doi:10.1007/s00415-018-8954-0
To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of 526 patients with SCA1, SCA2,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::427b5d0bb39e155807c22df0c47dba54
http://hdl.handle.net/11588/722781
http://hdl.handle.net/11588/722781
Autor:
Matthis Synofzik, Zofia Fleszar, Cornelia Schatton, Ludger Schöls, Martin A. Giese, Winfried Ilg
Publikováno v:
Parkinsonism & Related Disorders
Parkinsonism & related disorders 39, 80-84 (2017). doi:10.1016/j.parkreldis.2017.03.016
Parkinsonism & related disorders 39, 80-84 (2017). doi:10.1016/j.parkreldis.2017.03.016
Treatment options are rare in degenerative ataxias, especially in advanced, multisystemic disease. Exergame training might offer a novel treatment strategy, but its effectiveness has not been investigated in advanced stages.We examined the effectiven
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad367ca767dce962eeb03361b8cc12d
Autor:
Caterina Mariotti, Anna Sulek, Sylvia Boesch, Jörg B. Schulz, Lorenzo Nanetti, Maria Rakowicz, Dagmar Timmann, Jun Suk Kang, Katrin Bürk, Alessandro Filla, Perrine Charles, Ludger Schöls, Julia Schicks, Alexandra Durr, Marcella Masciullo, Antonella Antenora, Jon Infante, Annkathrin Peltz, Heike Jacobi, Laszlo Baliko, Thomas Klockgether, Béla Melegh, Roberto Di Fabio, Isabelle Dufaure-Garé, Sophie Tezenas du Montcel, Peter Bauer, Kathrin Reetz
Publikováno v:
The lancet / Neurology 12(7), 650-658 (2013). doi:10.1016/S1474-4422(13)70104-2
Summary Background Spinocerebellar ataxias (SCAs) are autosomal, dominantly inherited, fully penetrant neurodegenerative diseases. Our aim was to study the preclinical stage of the most common SCAs: SCA1, SCA2, SCA3, and SCA6. Methods Between Sept 13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49afe81075f4b1a4804bca1458880ef3
http://hdl.handle.net/11588/573071
http://hdl.handle.net/11588/573071
Autor:
Giuseppe De Michele, Jean Francois Foncin, Raffaele Maletta, Francesca Maltecca, Amalia C. Bruni, Giorgio Casari, Junko Takahashi-Fujigasaki, Antonio Servadio, Khalid Hamid El Hachimi, Sabrina A.M. Curcio, Charles Duyckaerts, Alessandro Filla, Pio D’Adamo
Background Spinocerebellar ataxia type 17 is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in the TATA box-binding protein gene. Ataxia is typically the first sign whereas behavioral symptoms occur later. Objective To chara
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3939ea44e03825de8260712f1ab99a3f