Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Disease and THAP1[original query] |
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| Prevalence of THAP1 sequence variants in German patients with primary dystonia. Movement disorders : official journal of the Movement Disorder Society 2010 Sep 25 (12): 1982-6. Söhn Anne S, Glöckle Nicola, Doetzer Andrea Duarte, Deuschl Günther, Felbor Ute, Topka Helge R, Schöls Ludger, Riess Olaf, Bauer Peter, Müller Ulrich, Grundmann Kathr |
| Novel THAP1 sequence variants in primary dystonia. Neurology 2010 Jan 74 (3): 229-38. Xiao J, Zhao Y, Bastian R W, Perlmutter J S, Racette B A, Tabbal S D, Karimi M, Paniello R C, Wszolek Z K, Uitti R J, Van Gerpen J A, Simon D K, Tarsy D, Hedera P, Truong D D, Frei K P, Dev Batish S, Blitzer A, Pfeiffer R F, Gong S, LeDoux M |
| SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain : a journal of neurology 2013 Jan 136 (Pt 1): Pt 1. Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR |
| Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. Journal of the neurological sciences 2014 Sep 344 (1-2): 190-2. da Silva-Junior Francisco Pereira, dos Santos Camila Oliveira, Silva Sonia Maria Cesar Azevedo, Barbosa Egberto Reis, Borges Vanderci, Ferraz Henrique Ballalai, Limongi João Carlos Papaterra, Rocha Maria Sheila Guimarães, de Carvalho Aguiar Patric |
| Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions. PloS one 2015 10 (6): e0129656. Golanska Ewa, Gajos Agata, Sieruta Monika, Szybka Malgorzata, Rudzinska Monika, Ochudlo Stanislaw, Kmiec Tomasz, Liberski Pawel P, Bogucki Andrz |
| Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2016 May . de Gusmão Claudio M, Fuchs Tania, Moses Andrew, Multhaupt-Buell Trisha, Song Phillip C, Ozelius Laurie J, Franco Ramon A, Sharma Nut |
| Clinical and genetic features of cervical dystonia in a large multicenter cohort. Neurology. Genetics 2016 Jun 2 (3): e69. LeDoux Mark S, Vemula Satya R, Xiao Jianfeng, Thompson Misty M, Perlmutter Joel S, Wright Laura J, Jinnah H A, Rosen Ami R, Hedera Peter, Comella Cynthia L, Weissbach Anne, Junker Johanna, Jankovic Joseph, Barbano Richard L, Reich Stephen G, Rodriguez Ramon L, Berman Brian D, Chouinard Sylvain, Severt Lawrence, Agarwal Pinky, Stover Natividad |
| Genetic analysis of dystonia-related genes in Parkinson's disease. Frontiers in aging neuroscience 2023 6 15 1207114. Yige Wang, Yuwen Zhao, Hongxu Pan, Qian Zeng, Xiaoxia Zhou, Yaqin Xiang, Zhou Zhou, Qian Xu, Qiying Sun, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Jifeng Guo, Beisha Tang, Qiao Yu, Zhenhua L |
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