HuGE Literature Finder
Records 1-30
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Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia.
Brain : a journal of neurology 2021 2 . Mazere Joachim, Dilharreguy Bixente, Catheline Gwenaëlle, Vidailhet Marie, Deffains Marc, Vimont Delphine, Ribot Bastien, Barse Elodie, Cif Laura, Mazoyer Bernard, Langbour Nicolas, Pisani Antonio, Allard Michèle, Lamare Frédéric, Guehl Dominique, Fernandez Philippe, Burbaud Pier |
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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 |
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Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.
Journal of molecular neuroscience : MN 2020 Jul . Giri Subhajit, Ghosh Arunibha, Roy Shubhrajit, Sankhla Charulata Savant, Das Shyamal Kumar, Ray Kunal, Ray Jhar |
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A preliminary exome sequence in three patients with tardive dystonia.
Psychiatric genetics 2019 Dec . Kanahara Nobuhisa, Nakata Yusuke, Iyo Masao |
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Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population.
Neuroscience letters 2017 Jul 657 1-4. Li Jiang, Long Yuzhou, Huang Xiaoqin, Chen Yuan, Chen Weikang, Liu Shang, Chu Jiayou, Yang Zhaoqing, Sun Hao, Fang Kew |
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A rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern Chinese.
Movement disorders : official journal of the Movement Disorder Society 2017 Apr . Long Yuzhou, Chen Yang, Qian Yuan, Wang Jianlin, Luo Lihua, Huang Xiaoqin, Li Li, Chu Jiayou, Yang Zhaoqing, Sun H |
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The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis.
PloS one 2017 12 (1): e0169934. Siokas Vasileios, Dardiotis Efthimios, Tsironi Evangelia E, Tsivgoulis Georgios, Rikos Dimitrios, Sokratous Maria, Koutsias Stylianos, Paterakis Konstantinos, Deretzi Georgia, Hadjigeorgiou Georgios |
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Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.
Parkinsonism & related disorders 2016 Jul . Zech Michael, Jochim Angela, Boesch Sylvia, Weber Sandrina, Meindl Tobias, Peters Annette, Gieger Christian, Mueller Joerg, Messner Michael, Ceballos-Baumann Andres, Poewe Werner, Haslinger Bernhard, Winkelmann Julia |
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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 |
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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 |
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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 |
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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 |
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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 |
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Association analysis of TOR1A polymorphisms rs2296793 and rs3842225 in a Chinese population with cervical dystonia.
Neuroscience letters 2015 Dec 612 185-188. Zhou Qingqing, Chen Yongping, Yang Jing, Cao Bei, Wei Qianqian, Ou Ruwei, Song Wei, Zhao Bi, Wu Ying, Shang Huifa |
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TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia.
The International journal of neuroscience 2015 Sep 125 (9): 671-7. Timerbaeva Sofia L, Abramycheva Natalia Yu, Rebrova Olga Yu, Illarioshkin Sergey |
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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 |
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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 |
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Analysis of D216H polymorphism in Argentinean patients with primary dystonia.
Journal of neurogenetics 2013 Jun 27 (1-2): 16-8. Caputo Mariela, Irisarri Maximiliano, Perandones Claudia, Alechine Evguenia, Pellene Luis Alejandro, Roca Claudia Uribe, Micheli Federico E, Corach Dani |
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Is TOR1A a risk factor in adult-onset primary torsion dystonia?
Movement disorders : official journal of the Movement Disorder Society 2013 Jun 28 (6): 827-31. Groen Justus L, Ritz Katja, Tanck Michael W, van de Warrenburg Bart P, van Hilten Jacobus J, Aramideh Majid, Baas Frank, Tijssen Marina A |
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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 |
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Association of rs1182 polymorphism of the DYT1 gene with primary dystonia in Chinese population.
Journal of the neurological sciences 2012 Dec 323 (1-2): 228-31. Chen Yongping, Chen Ke, Burgunder Jean-Marc, Song Wei, Huang Rui, Zhao Bi, Cao Bei, Chen Xueping, Jiang Yi, Shang Hui-Fa |
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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 |
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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 |
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An examination of TOR1A variants in recurrent major depression.
International journal of molecular epidemiology and genetics 2012 3 (1): 91-5. Heining F, Langguth B, Eichhammer P, M Domani, G Hajak, Sand P |
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Clinical features, DYT1 mutation screening and genotype-phenotype correlation in patients with dystonia from Iran.
Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2012 21 (5): 462-6. Akbari Mohammad Taghi, Zand Zahra, Shahidi Gholam Ali, Hamid Mohamm |
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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 |
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Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
Movement disorders : official journal of the Movement Disorder Society 2010 Oct 25 (13): 2183-7. Sharma Nutan, Franco Ramon A, Kuster John K, Mitchell Adele A, Fuchs Tania, Saunders-Pullman Rachel, Raymond Deborah, Brin Mitchell F, Blitzer Andrew, Bressman Susan B, Ozelius Laurie |
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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 |
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The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.
Movement disorders : official journal of the Movement Disorder Society 2009 Mar 24 (4): 613-6. Defazio Giovanni, Matarin Mar, Peckham Elizabeth L, Martino Davide, Valente Enza M, Singleton Andrew, Crawley Anthony, Aniello Maria Stella, Brancati Francesco, Abbruzzese Giovanni, Girlanda Paolo, Livrea Paolo, Hallett Mark, Berardelli Alfre |
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High-throughput mutational analysis of TOR1A in primary dystonia.
BMC medical genetics 2009 10 (1): 24. Xiao Jianfeng, Bastian Robert W, Perlmutter Joel S, Racette Brad A, Tabbal Samer D, Karimi Morvarid, Paniello Randal C, Blitzer Andrew, Batish Sat Dev, Wszolek Zbigniew K, Uitti Ryan J, Hedera Peter, Simon David K, Tarsy Daniel, Truong Daniel D, Frei Karen P, Pfeiffer Ronald F, Gong Suzhen, Zhao Yu, LeDoux Mark |
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- Page last updated:Mar 05, 2021
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