Article
A Multi-center Genome-wide Association Study of Cervical Dystonia.
Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2021
Sun Yan V, Li Chengchen, Hui Qin, Huang Yunfeng, Barbano Richard, Rodriguez Ramon, Malaty Irene A, Reich Stephen, Bambarger Kimberly, Holmes Katie, Jankovic Joseph, Patel Neepa J, Roze Emmanuel, Vidailhet Marie, Berman Brian D, LeDoux Mark S, Espay Alberto J, Agarwal Pinky, Pirio-Richardson Sarah, Frank Samuel A, Ondo William G, Saunders-Pullman Rachel, Chouinard Sylvain, Natividad Stover, Berardelli Alfredo, Pantelyat Alexander Y, Brashear Allison, Fox Susan H, Kasten Meike, Krämer Ulrike M, Neis Miriam, Bäumer Tobias, Loens Sebastian, Borsche Max, Zittel Simone, Maurer Antonia, Gelderblom Mathias, Volkmann Jens, Odorfer Thorsten, Kühn Andrea A, Borngräber Friederike, König Inke R, Cruchaga Carlos, Cotton Adam C, Kilic-Berkmen Gamze, Freeman Alan, Factor Stewart A, Scorr Laura, Bremner J Douglas, Vaccarino Viola, Quyyumi Arshed A, Klein Christine, Perlmutter Joel S, Lohmann Katja, Jinnah Hyder A
Abstract excerpt
BACKGROUND: Several monogenic causes for isolated dystonia have been identified, but they collectively account for only a small proportion of cases. Two genome-wide association studies have reported a few potential dystonia risk loci; but conclusions have been limited by small sample sizes, partial coverage of genetic variants, or poor reproducibility. OBJECTIVE: To identify robust genetic variants and loci in a...
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