Human Genome Epidemiology Literature Finder
Records 1 - 27 (of 27 Records) |
Query Trace: Dystonia and THAP1[original query] |
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Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. The Lancet. Neurology 2009 May 8 (5): 447-52. Djarmati Ana, Schneider Susanne A, Lohmann Katja, Winkler Susen, Pawlack Heike, Hagenah Johann, Brüggemann Norbert, Zittel Simone, Fuchs Tania, Rakovi? Aleksandar, Schmidt Alexander, Jabusch Hans-Christian, Wilcox Robert, Kosti? Vladimir S, Siebner Hartwig, Altenmüller Eckart, Münchau Alexander, Ozelius Laurie J, Klein Christi |
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. European journal of neurology : the official journal of the European Federation of Neurological Societies 2011 Mar 18 (3): 497-503. Cheng F B, Wan X H, Feng J C, Wang L, Yang Y M, Cui L |
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 |
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 2010 Mar 74 (10): 846-50. Houlden H, Schneider S A, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia K |
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 |
Identification and functional analysis of novel THAP1 mutations. European journal of human genetics : EJHG 2012 Feb 20 (2): 171-5. Lohmann Katja, Uflacker Nils, Erogullari Alev, Lohnau Thora, Winkler Susen, Dendorfer Andreas, Schneider Susanne A, Osmanovic Alma, Svetel Marina, Ferbert Andreas, Zittel Simone, Kühn Andrea A, Schmidt Alexander, Altenmüller Eckart, Münchau Alexander, Kamm Christoph, Wittstock Matthias, Kupsch Andreas, Moro Elena, Volkmann Jens, Kostic Vladimir, Kaiser Frank J, Klein Christine, Brüggemann Norbe |
Novel THAP1 gene mutations in patients with primary dystonia from southwest China. Journal of the neurological sciences 2011 Oct 309 (1-2): 63-7. Song Wei, Chen Yongping, Huang Rui, Chen Ke, Pan Pinglei, Yang Yuan, Shang Hui-Fa |
The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. Movement disorders : official journal of the Movement Disorder Society 2011 Feb 26 (3): 549-52. Xiao Jianfeng, Zhao Yu, Bastian Robert W, Perlmutter Joel S, Racette Brad A, Tabbal Samer D, Karimi Morvarid, Paniello Randal C, Wszolek Zbigniew K, Uitti Ryan J, Van Gerpen Jay A, Simon David K, Tarsy Daniel, Hedera Peter, Truong Daniel D, Frei Karen P, Blitzer Andrew, Rudzi?ska Monika, Pfeiffer Ronald F, Le Carrie, LeDoux Mark |
Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias. Parkinsonism & related disorders 2012 May 18 (4): 351-7. Newman Jeremy R B, Sutherland Greg T, Boyle Richard S, Limberg Nicole, Blum Stefan, O'Sullivan John D, Silburn Peter A, Mellick George |
Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia. Journal of neurology 2012 Nov . Dobri?i? VS, Kresojevi? ND, Svetel MV, Jankovi? MZ, Petrovi? IN, Tomi? AD, Novakovi? IV, Kosti? VS |
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 |
A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. Molecular genetics & genomic medicine 2014 May 2 (3): 261-72. Vemula Satya R, Xiao Jianfeng, Zhao Yu, Bastian Robert W, Perlmutter Joel S, Racette Brad A, Paniello Randal C, Wszolek Zbigniew K, Uitti Ryan J, Van Gerpen Jay A, Hedera Peter, Truong Daniel D, Blitzer Andrew, Rudzi?ska Monika, Mom?ilovi? Dragana, Jinnah Hyder A, Frei Karen, Pfeiffer Ronald F, LeDoux Mark |
DRD1 rare variants associated with tardive-like dystonia: a pilot pathway sequencing study in dystonia. Parkinsonism & related disorders 2014 Jul 20 (7): 782-5. Groen Justus L, Ritz Katja, Warner Tom T, Baas Frank, Tijssen Marina A |
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 |
New THAP1 mutation and role of putative modifier in TOR1A. Acta neurologica Scandinavica 2016 Mar . Piovesana L G, Torres F R, Azevedo P C, Amaral T P, Lopes-Cendes I, D'Abreu |
Genetic screening of THAP1 in primary dystonia patients of India. Neuroscience letters 2017 Jan 637 31-37. Giri Subhajit, Naiya Tufan, Equbal Zaffar, Sankhla Charulata Savant, Das Shyamal Kumar, Ray Kunal, Ray Jhar |
Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function. Journal of neurology 2016 Jan . Dos Santos Camila Oliveira, Masuho Ikuo, da Silva-Júnior Francisco Pereira, Barbosa Egberto Reis, Silva Sonia Maria Cesar Azevedo, Borges Vanderci, Ferraz Henrique Ballalai, Rocha Maria Sheila Guimarães, Limongi João Carlos Papaterra, Martemyanov Kirill A, de Carvalho Aguiar Patric |
Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population. Clinical neurology and neurosurgery 2016 Mar 142 26-30. Wang Lei, Duan Chenchi, Gao Yuan, Xu Wei, Ding Jianqing, Liu Victoria T, Wu Yiw |
Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1. BMJ case reports 2019 5 12 (5): . Mu Weiyi, Tochen Laura, Bertsch Caroline, Singer Harvey S, Barañano Kristin |
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes. Parkinsonism & related disorders 2019 11 69 111-118. Kumar Kishore R, Davis Ryan L, Tchan Michel C, Wali G M, Mahant Neil, Ng Karl, Kotschet Katya, Siow Sue-Faye, Gu Jason, Walls Zachary, Kang Ce, Wali Gautam, Levy Stan, Phua Chung Sen, Yiannikas Con, Darveniza Paul, Chang Florence C F, Morales-Briceño Hugo, Rowe Dominic B, Drew Alex, Gayevskiy Velimir, Cowley Mark J, Minoche Andre E, Tisch Stephen, Hayes Michael, Kummerfeld Sarah, Fung Victor S C, Sue Carolyn |
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review. European journal of neurology 2020 Nov . Gómez-Garre Pilar, Jesús Silvia, Periñán María Teresa, Adarmes Astrid, Alonso-Canovas Araceli, Blanco-Ollero Alberto, Buiza-Rueda Dolores, Carrillo Fátima, Catalán-Alonso María José, Del Val Javier, Escamilla-Sevilla Francisco, Espinosa-Rosso Raúl, Fernández-Moreno María Carmen, García-Moreno José Manuel, José García-Ruiz Pedro, Giacometti-Silveira Sandra, Gutiérrez-García Javier, López-Valdés Eva, Macías-García Daniel, Martínez-Castrillo Juan Carlos, Martínez-Torres Irene, Medialdea-Natera María Pilar, Mínguez-Castellanos Adolfo, Moya Miguel Ángel, Ochoa-Sepulveda Juan José, Ojea Tomás, Rodríguez Nuria, Sillero-Sánchez Miriam, Tejera-Parrado Cristina, Mir Pab |
A preliminary exome sequence in three patients with tardive dystonia. Psychiatric genetics 2019 Dec . Kanahara Nobuhisa, Nakata Yusuke, Iyo Masao |
Genetic screening in patients of Meige syndrome and blepharospasm. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 1 43 (6): 3683-3694. Teng Xinqi, Qu Qiang, Shu Yi, Gong Jiaoe, Xu Bei, Qu Ji |
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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