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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 2014
Schlagworte:
Phenotypes
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge