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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. Among authors: bardakjian t. Mov Disord. 2022 Jan;37(1):137-147. doi: 10.1002/mds.28804. Epub 2021 Oct 1. Mov Disord. 2022. PMID: 34596301
Towards precision medicine.
Bardakjian T, Gonzalez-Alegre P. Bardakjian T, et al. Handb Clin Neurol. 2018;147:93-102. doi: 10.1016/B978-0-444-63233-3.00008-7. Handb Clin Neurol. 2018. PMID: 29325630 Review.
Contrast Acuity and the King-Devick Test in Huntington's Disease.
Hamedani AG, Bardakjian T, Balcer LJ, Gonzalez-Alegre P. Hamedani AG, et al. Among authors: bardakjian t. Neuroophthalmology. 2019 Nov 25;44(4):219-225. doi: 10.1080/01658107.2019.1669668. eCollection 2020. Neuroophthalmology. 2019. PMID: 33012907 Free PMC article.
PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.
Walker IM, Riboldi GM, Drummond P, Saade-Lemus S, Martin-Saavedra JS, Frucht S, Bardakjian TM, Gonzalez-Alegre P, Deik A. Walker IM, et al. Ann Neurol. 2021 Jan;89(1):194-195. doi: 10.1002/ana.25943. Epub 2020 Nov 5. Ann Neurol. 2021. PMID: 33098144 No abstract available.
65 results