Article
DNAJC13 mutations in Parkinson disease.
Human molecular genetics - 1 Apr 2014
Vilariño-Güell Carles, Rajput Alex, Milnerwood Austen J, Shah Brinda, Szu-Tu Chelsea, Trinh Joanne, Yu Irene, Encarnacion Mary, Munsie Lise N, Tapia Lucia, Gustavsson Emil K, Chou Patrick, Tatarnikov Igor, Evans Daniel M, Pishotta Frederick T, Volta Mattia, Beccano-Kelly Dayne, Thompson Christina, Lin Michelle K, Sherman Holly E, Han Heather J, Guenther Bruce L, Wasserman Wyeth W, Bernard Virginie, Ross Colin J, Appel-Cresswell Silke, Stoessl A Jon, Robinson Christopher A, Dickson Dennis W, Ross Owen A, Wszolek Zbigniew K, Aasly Jan O, Wu Ruey-Meei, Hentati Faycal, Gibson Rachel A, McPherson Peter S, Girard Martine, Rajput Michele, Rajput Ali H, Farrer Matthew J
Abstract excerpt
A Saskatchewan multi-incident family was clinically characterized with Parkinson disease (PD) and Lewy body pathology. PD segregates as an autosomal-dominant trait, which could not be ascribed to any known mutation. DNA from three affected members was subjected to exome sequencing. Genome alignme...
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