Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Polyglutamine-coding (CAG)n repeat expansions in seven different genes cause spinocerebellar ataxias. Although the size of the expansion is negatively correlated with age at onset, it accounts for only 50–70% of its variability. To find other factors involved in this variability, we performed a regr...

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Autors principals: 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, Timmann, Dagmar, Mandich, Paola, Camuzat, Agnès, Goto, Jun, Ashizawa, Tetsuo, Cazeneuve, Cécile, Tsuji, Shoji, Pulst, Stefan-M., Brusco, Alfredo, Riess, Olaf, Brice, Alexis, Stevanin, Giovanni
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2014
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4132646/
https://ncbi.nlm.nih.gov/pubmed/24972706
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu174
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