Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.
Aging
Akçimen, Fulya F; Martins, Sandra S; Liao, Calwing C; Bourassa, Cynthia V CV; Catoire, Hélène H; Nicholson, Garth A GA; Riess, Olaf O; Raposo, Mafalda M; França, Marcondes C MC; Vasconcelos, João J; Lima, Manuela M; Lopes-Cendes, Iscia I; Saraiva-Pereira, Maria Luiza ML; Jardim, Laura B LB; Sequeiros, Jorge J; Dion, Patrick A PA; Rouleau, Guy A GA
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.
Ebiomedicine
Ciosi, Marc M; Maxwell, Alastair A; Cumming, Sarah A SA; Hensman Moss, Davina J DJ; Alshammari, Asma M AM; Flower, Michael D MD; Durr, Alexandra A; Leavitt, Blair R BR; Roos, Raymund A C RAC; , ; , ; Holmans, Peter P; Jones, Lesley L; Langbehn, Douglas R DR; Kwak, Seung S; Tabrizi, Sarah J SJ; Monckton, Darren G DG
A modifier of Huntington's disease onset at the MLH1 locus.
Human Molecular Genetics
Lee, Jong-Min JM; Chao, Michael J MJ; Harold, Denise D; Abu Elneel, Kawther K; Gillis, Tammy T; Holmans, Peter P; Jones, Lesley L; Orth, Michael M; Myers, Richard H RH; Kwak, Seung S; Wheeler, Vanessa C VC; MacDonald, Marcy E ME; Gusella, James F JF