Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Dystonia and GNAL[original query] |
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Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls. Movement disorders : official journal of the Movement Disorder Society 2014 Jan 29 (1): 143-7. Zech Michael, Gross Nadine, Jochim Angela, Castrop Florian, Kaffe Maria, Dresel Christian, Lichtner Peter, Peters Annette, Gieger Christian, Meitinger Thomas, Haslinger Bernhard, Winkelmann Julia |
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 |
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 |
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 |
Blepharospasm: A genetic screening study in 132 patients. Parkinsonism & related disorders 2019 4 64 315-318. Hammer Monia, Abravanel Alexandra, Peckham Elizabeth, Mahloogi Ava, Majounie Elisa, Hallett Mark, Singleton Andr |
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 |
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 |
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- Page last updated:Apr 16, 2024
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