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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Phenotypes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078703/
https://www.ncbi.nlm.nih.gov/pubmed/24780882
http://dx.doi.org/10.1136/jmedgenet-2013-102200

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078703/
https://www.ncbi.nlm.nih.gov/pubmed/24780882
http://dx.doi.org/10.1136/jmedgenet-2013-102200

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