Genetic modifiers Polyglutamine disease Spinocerebellar ataxias Genotyping DNA repair

B48 DNA repair pathways as a common genetic mechanism modulating the age at onset in polyglutamine diseases
Conceição Bettencourt, Davina Hensman Moss, Michael Flower, Sarah Wiethoff, Alexis Brice, Cyril Goizet, Giovanni Stevanin, Georgios Koutsis, Georgia Karadima, Marios Panas, Petra Yescas-Gómez, Lizbeth Esmeralda García-Velázquez, María Elisa Alonso-Vilatela, Manuela Lima, Mafalda Raposo, Bryan Traynor, Mary Sweeney, Nicholas Wood, Paola Giunti, Alexandra Durr, for the French SPATAX network, Peter Holmans, Henry Houlden, Sarah J Tabrizi, Lesley Jones

Journal of Neurology, Neurosurgery & Psychiatry Sep 2016, 87 (Suppl 1) A26; DOI: 10.1136/jnnp-2016-314597.79

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Genetic modifiers Polyglutamine disease Spinocerebellar ataxias Genotyping DNA repair