Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

BACKGROUND: The most common spinocerebellar ataxias (SCA)—SCA1, SCA2, SCA3, and SCA6—are caused by (CAG)n repeat expansion. While the number of repeats of the coding (CAG)n expansions is correlated with the age at onset, there are no appropriate models that include both affected and preclinical carr...

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Detalhes bibliográficos
Main Authors: Tezenas du Montcel, Sophie, Durr, Alexandra, Rakowicz, Maria, Nanetti, Lorenzo, Charles, Perrine, Sulek, Anna, Mariotti, Caterina, Rola, Rafal, Schols, Ludger, Bauer, Peter, Dufaure-Garé, Isabelle, Jacobi, Heike, Forlani, Sylvie, Schmitz-Hübsch, Tanja, Filla, Alessandro, Timmann, Dagmar, van de Warrenburg, Bart P, Marelli, Cecila, Kang, Jun-Suk, Giunti, Paola, Cook, Arron, Baliko, Laszlo, Bela, Melegh, Boesch, Sylvia, Szymanski, Sandra, Berciano, José, Infante, Jon, Buerk, Katrin, Masciullo, Marcella, Di Fabio, Roberto, Depondt, Chantal, Ratka, Susanne, Stevanin, Giovanni, Klockgether, Thomas, Brice, Alexis, Golmard, Jean-Louis
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2014
Assuntos:
Phenotypes
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4078703/
https://ncbi.nlm.nih.gov/pubmed/24780882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-102200
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