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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Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 2014
Sujets:
Phenotypes
Accès en ligne: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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