Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 32 Records) |
Query Trace: Cervical Dystonia[original query] |
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Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia. European journal of neurology : the official journal of the European Federation of Neurological Societies 2009 Aug 16 (8): 949-52. Martino D, Muglia M, Abbruzzese G, Berardelli A, Girlanda P, Liguori M, Livrea P, Quattrone A, Roselli F, Sprovieri T, Valente E M, Defazio |
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 |
Increased prevalence of val(66)met BDNF genotype among subjects with cervical dystonia. Neuroscience letters 2010 Jan 468 (1): 42-5. Cramer Steven C, Sampat Ajay, Haske-Palomino Maureen, Nguyen Shawn, Procaccio Vincent, Hermanowicz Ne |
Association of HLA Class II alleles and haplotypes with cervical dystonia: HLA DR13-DQ6 (DQB1*0604) homozygotes are at greatly increased risk of cervical dystonia in Caucasian Americans. Autoimmunity 2011 May 44 (3): 167-76. Deitiker Philip R, Oshima Minako, Jankovic Joseph, Duane Drake D, Aoki K Roger, Atassi M Zouha |
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 |
Clinical feature and DYT1 mutation screening in primary dystonia patients from South-West China. European journal of neurology : the official journal of the European Federation of Neurological Societies 2010 Jun 17 (6): 846-51. Zhang S-S, Fang D-F, Hu X-H, Burgunder J-M, Chen X-P, Zhang Y-W, Shang H |
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 |
Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort. European journal of neurology : the official journal of the European Federation of Neurological Societies 2012 Jun 19 (6): 924-6. Chen Y, Burgunder J-M, Song W, Huang R, Shang H |
Cervical dystonia and genetic common variation in the dopamine pathway. Parkinsonism & related disorders 2013 Mar 19 (3): 346-9. Groen Justus L, Simón-Sánchez Javier, Ritz Katja, Bochdanovits Zoltán, Fang Yue, van Hilten Jacobus J, Aramideh Majid, van de Warrenburg Bart P, Boon Agnita J W, Baas Frank, Heutink Peter, Tijssen Marina A |
Brain-derived neurotrophic factor Val66Met polymorphism is not associated with primary dystonia in a Chinese population. Neuroscience letters 2012 Nov . Ma L, Chen Y, Wang L, Yang Y, Cheng F, Tian Y, Wan X |
Association of the Val66Met polymorphism of the BDNF gene with primary cranial-cervical dystonia patients from South-west China. Parkinsonism & related disorders 2013 Nov 19 (11): 1043-5. Chen Yongping, Song Wei, Yang Jing, Chen Ke, Huang Rui, Zhao Bi, Cao Bei, Burgunder Jeanmarc, Shang Hui-Fa |
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 |
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Movement disorders : official journal of the Movement Disorder Society 2014 Feb 29 (2): 245-51. Mok Kin Y, Schneider Susanne A, Trabzuni Daniah, Stamelou Maria, Edwards Mark, Kasperaviciute Dalia, Pickering-Brown Stuart, Silverdale Monty, Hardy John, Bhatia Kailash |
Lack of validation of variants associated with cervical dystonia risk: a GWAS replication study. Movement disorders : official journal of the Movement Disorder Society 2014 Dec 29 (14): 1825-8. Gómez-Garre Pilar, Huertas-Fernández Ismael, Cáceres-Redondo María Teresa, Alonso-Canovas Araceli, Bernal-Bernal Inmaculada, Blanco-Ollero Alberto, Bonilla-Toribio Marta, Burguera Juan Andrés, Carballo Manuel, Carrillo Fatima, José Catalán-Alonso M, Escamilla-Sevilla Francisco, Espinosa-Rosso Raul, Carmen Fernández-Moreno María, García-Caldentey Juan, García-Moreno José Manuel, Giacometti-Silveira Sandra, Gutiérrez-García Javier, Jesús-Maestre Silvia, López-Valdés Eva, Martínez-Castrillo Juan Carlos, Medialdea-Natera María Pilar, Méndez-Lucena Carolina, Mínguez-Castellanos Adolfo, Angel Moya Miguel, Ochoa-Sepulveda Juan José, Ojea Tomas, Rodríguez Nuria, Rubio-Agusti Ignacio, Sillero-Sánchez Miriam, Del Val Javier, Vargas-González Laura, Mir Pab |
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 |
BDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysis. Movement disorders : official journal of the Movement Disorder Society 2014 Jul 29 (8): 1083-6. Gómez-Garre Pilar, Huertas-Fernández Ismael, Cáceres-Redondo María Teresa, Alonso-Canovas Araceli, Bernal-Bernal Inmaculada, Blanco-Ollero Alberto, Bonilla-Toribio Marta, Burguera Juan Andrés, Carballo Manuel, Carrillo Fátima, Catalán-Alonso María José, Escamilla-Sevilla Francisco, Espinosa-Rosso Raúl, Fernández-Moreno María Carmen, García-Caldentey Juan, García-Moreno José Manuel, García-Ruiz Pedro José, Giacometti-Silveira Sandra, Gutiérrez-García Javier, Jesús Silvia, López-Valdés Eva, Martínez-Castrillo Juan Carlos, Martínez-Torres Irene, Medialdea-Natera María Pilar, Méndez-Lucena Carolina, Mínguez-Castellanos Adolfo, Moya Miguel, Ochoa-Sepulveda Juan José, Ojea Tomás, Rodríguez Nuria, Sillero-Sánchez Miriam, Vargas-González Laura, Mir Pab |
De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient. Movement disorders : official journal of the Movement Disorder Society 2014 Aug 29 (9): 1190-3. Dobri?i? Valerija, Kresojevi? Nikola, Westenberger Ana, Svetel Marina, Tomi? Aleksandra, Rali? Vesna, Petrovi? Igor, Luki? Milica Je?menica, Lohmann Katja, Novakovi? Ivana, Klein Christine, Kosti? Vladimir |
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 |
Association Analysis of NALCN Polymorphisms rs1338041 and rs61973742 in a Chinese Population with Isolated Cervical Dystonia. Parkinson's disease 2016 2016 9281790. Zhou Qingqing, Yang Jing, Cao Bei, Chen Yongping, Wei Qianqian, Ou Ruwei, Song Wei, Zhao Bi, Wu Ying, Shang Huifa |
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 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 |
CACNA1B gene variants in adult-onset isolated focal dystonia. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 10 42 (3): 1113-1117. Coco? Relu, Raicu Florina, B?jenaru Ovidiu Lucian, Olaru Iulia, Dumitrescu Laura, Popescu Bogdan Ovid |
Cognitive Performance After Facial Botulinum Toxin Treatment in a Cohort of Neurologic Patients: An Exploratory Study. Archives of physical medicine and rehabilitation 2021 9 103 (3): 402-408. Platho-Elwischger Kirsten, Schmoeger Michaela, Willinger Ulrike, Abdel-Aziz Carmen, Algner Jennifer, Pretscherer Sandra, Auff Eduard, Kranz Gottfried, Turnbull Oliver, Sycha Thom |
A Multi-center Genome-wide Association Study of Cervical Dystonia.
Movement disorders : official journal of the Movement Disorder Society 2021 7 36 (12): 2795-2801. Sun Yan V, Li Chengchen, Hui Qin, Huang Yunfeng, Barbano Richard, Rodriguez Ramon, Malaty Irene A, Reich Stephen, Bambarger Kimberly, Holmes Katie, Jankovic Joseph, Patel Neepa J, Roze Emmanuel, Vidailhet Marie, Berman Brian D, LeDoux Mark S, Espay Alberto J, Agarwal Pinky, Pirio-Richardson Sarah, Frank Samuel A, Ondo William G, Saunders-Pullman Rachel, Chouinard Sylvain, Natividad Stover, Berardelli Alfredo, Pantelyat Alexander Y, Brashear Allison, Fox Susan H, Kasten Meike, Krämer Ulrike M, Neis Miriam, Bäumer Tobias, Loens Sebastian, Borsche Max, Zittel Simone, Maurer Antonia, Gelderblom Mathias, Volkmann Jens, Odorfer Thorsten, Kühn Andrea A, Borngräber Friederike, König Inke R, Cruchaga Carlos, Cotton Adam C, Kilic-Berkmen Gamze, Freeman Alan, Factor Stewart A, Scorr Laura, Bremner J Douglas, Vaccarino Viola, Quyyumi Arshed A, Klein Christine, Perlmutter Joel S, Lohmann Katja, Jinnah Hyder |
Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study. Journal of neurology 2022 8 269 (12): 6436-6451. Wadon Megan E, Fenner Eilidh, Kendall Kimberley M, Bailey Grace A, Sandor Cynthia, Rees Elliott, Peall Kathryn |
Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients. Clinical epigenetics 2022 12 14 (1): 170. Timmers Elze R, Plösch Torsten, Smit Marenka, Hof Ingrid H, Verkaik-Schakel Rikst Nynke, Tijssen Marina A J, de Koning Tom J, Niezen-Koning Klary |
A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia. Frontiers in neurology 2023 4 14 1105760. Rui Wu, Weikang Dou, Huimin Zhou, Ming S |
Mutation screening of AOPEP variants in a large dystonia cohort. Journal of neurology 2023 3 . Lin Junyu, Li Chunyu, Cui Yiyuan, Hou Yanbing, Zhang Lingyu, Ou Ruwei, Wei Qianqian, Liu Kuncheng, Huang Rui, Yang Tianmi, Xiao Yi, Jiang Qirui, Yang Jing, Chen Xueping, Shang Huifa |
Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia. Heliyon 2024 6 10 (11): e31885. Rui Wu, Wen-Tian Chen, Wei-Kang Dou, Hui-Min Zhou, Ming S |
Association analyses between the variants of SNAP25, SV2C and ST3GAL2 and the efficacy of botulinum toxin A in the treatment of the primary Meige syndrome. Heliyon 2024 4 10 (8): e28543. Wen-Qi Wu, Kai Li, Lu-Lu Chu, Ting-Ting Shen, Yang Li, Ying-Ying Xu, Qi-Lin Zhang, Chun-Feng Liu, Jing Liu, Xu-Ping Zhou, Wei-Feng L |
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