Zobrazeno 1 - 3
of 3
pro vyhledávání: '"physiopathology [Machado-Joseph Disease]"'
Autor:
Weihua Liao, Jingyi Tang, Yuting Shi, Peng Huirong, Youming Zhang, Xue-wei Zhang, Qiyong Cai, Chunrong Wang, Puzhi Wang, Thomas Klockgether, Hong Jiang, Jennifer Zhang, Shaohui Liu, Linlin Wan, Tianjiao Li, Yun Peng, Na Wan, Chen Zhao, Yue Xie, Hongyu Yuan, Beisha Tang, Rong Qiu
Publikováno v:
Neurology 95(22), e2977-e2987 (2020). doi:10.1212/WNL.0000000000010671
ObjectiveTo investigate serum neurofilament light protein (sNfL) levels in patients with spinocerebellar ataxia type 3 (SCA3) and to determine whether they are associated with disease severity.MethodsThis cross-sectional study enrolled 185 healthy co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc1ff520ff0008db71166e8a290a7522
https://doi.org/10.1212/wnl.0000000000010671
https://doi.org/10.1212/wnl.0000000000010671
Autor:
Rafał Rola, Antonella Antenora, Tanja Schmitz-Hübsch, Massimo Pandolfo, Bart P.C. van de Warrenburg, Anna Castaldo, Alexis Brice, Wolfgang Nachbauer, Sophie Tezenas du Montcel, José Berciano, Arron Cook, Paola Giunti, Caterina Mariotti, Jörg B. Schulz, Lorenzo Nanetti, Heike Jacobi, Kang Jun-Suk, Jon Infante, Holger Hengel, Alexandra Durr, Laszlo Baliko, Thomas Klockgether, Ludger Schöls, Michael H Parkinson, Alessandro Filla, Béla Melegh, Maria Rakowicz, Alhassane Diallo, Perrine Charles, Sylvia Boesch, Anna Sulek, Dagmar Timmann, Peter Bauer, Cecila Marelli, Robyn Labrum, Marta Panzeri
Publikováno v:
Movement disorders
Movement disorders 34(8), 1220-1227 (2019). doi:10.1002/mds.27739
Movement Disorders, 34, 1220-1227
Movement Disorders, 34, 8, pp. 1220-1227
Movement disorders 34(8), 1220-1227 (2019). doi:10.1002/mds.27739
Movement Disorders, 34, 1220-1227
Movement Disorders, 34, 8, pp. 1220-1227
Background: Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death. Objective: To quantify the impact of disease progression measured by the Scale for the Assessment and Rat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2527d82655eeffa347c74770eb8a24d5
https://www.ncbi.nlm.nih.gov/pubmed/31211461
https://www.ncbi.nlm.nih.gov/pubmed/31211461
Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia
Autor:
Matthis Synofzik, Ludger Schöls, Tobias Lindig, Bettina Brendel, Theresa Schölderle, Hermann Ackermann, Wolfram Ziegler
Publikováno v:
Journal of neurology 262(1), 21-26 (2014). doi:10.1007/s00415-014-7511-8
Patterns of dysarthria in spinocerebellar ataxias (SCAs) and their discriminative features still remain elusive. Here we aimed to compare dysarthria profiles of patients with (SCA3 and SCA6 vs. Friedreich ataxia (FRDA), focussing on three particularl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f916cdf57df0c3c9a64ff821fa6b1dbe
https://pubmed.ncbi.nlm.nih.gov/25267338
https://pubmed.ncbi.nlm.nih.gov/25267338