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PubMed (GeneRIF) for id: 84909

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Mutation screening of AOPEP variants in a large dystonia cohort.
Lin J, Li C, Cui Y, Hou Y, Zhang L, Ou R, Wei Q, Liu K, Huang R, Yang T, Xiao Y, Jiang Q, Yang J, Chen X, Shang H. Lin J, et al. J Neurol. 2023 Jun;270(6):3225-3233. doi: 10.1007/s00415-023-11665-7. Epub 2023 Mar 18. J Neurol. 2023. PMID: 36933031
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
Garavaglia B, Vallian S, Romito LM, Straccia G, Capecci M, Invernizzi F, Andrenelli E, Kazemi A, Boesch S, Kopajtich R, Olfati N, Shariati M, Shoeibi A, Sadr-Nabavi A, Prokisch H, Winkelmann J, Zech M. Garavaglia B, et al. Parkinsonism Relat Disord. 2022 Apr;97:52-56. doi: 10.1016/j.parkreldis.2022.03.007. Epub 2022 Mar 16. Parkinsonism Relat Disord. 2022. PMID: 35306330
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Méneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S. Zech M, et al. Mov Disord. 2022 Jan;37(1):137-147. doi: 10.1002/mds.28804. Epub 2021 Oct 1. Mov Disord. 2022. PMID: 34596301