Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Atrophy and CACNA1A[original query] |
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| Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. Archives of neurology 2002 Jun 59 (6): 1016-8. Terwindt Gisela, Kors Esther, Haan Joost, Vermeulen Frans, Van den Maagdenberg Arn, Frants Rune, Ferrari Mich |
| Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. Journal of human genetics 2015 Nov . Paradisi Irene, Ikonomu Vassiliki, Arias Serg |
| Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clinical genetics 2016 Apr . Barresi S, Niceta M, Alfieri P, Brankovich V, Piccini G, Bruselles A, Barone M R, Cusmai R, Tartaglia M, Bertini E, Zanni |
| Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease. Neurobiology of aging 2018 Sep . Gardiner Sarah L, Harder Aster V E, Campman Yvonne J M, Trompet Stella, Gussekloo Jacobijn, van Belzen Martine J, Boogaard Merel W, Roos Raymund A C, Jansen Iris E, Pijnenburg Yolande A L, Scheltens Philip, van der Flier Wiesje M, Aziz N Ahm |
| Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts. JAMA neurology 2019 Apr . Gardiner Sarah L, Boogaard Merel W, Trompet Stella, de Mutsert Renée, Rosendaal Frits R, Gussekloo Jacobijn, Jukema J Wouter, Roos Raymund A C, Aziz N Ahm |
| Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications. Parkinsonism & related disorders 2020 9 80 58-64. Kim Minkyeong, Kim Ah Reum, Kim Ji Sun, Park Jongkyu, Youn Jinyoung, Ahn Jong Hyeon, Mun Jun Kyu, Lee Chung, Kim Nam-Soon, Kim Nayoung K D, Park Woong-Yang, Cho Jin Wh |
| Clinical phenotypes of infantile onset CACNA1A-related disorder. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020 12 30 144-154. Gur-Hartman Tamar, Berkowitz Oren, Yosovich Keren, Roubertie Agathe, Zanni Ginevra, Macaya Alfons, Heimer Gali, Dueñas Belén Pérez, Sival Deborah A, Pode-Shakked Ben, López-Laso Eduardo, Humbertclaude Véronique, Riant Florence, Bosco Luca, Cayron Lital Bachar, Nissenkorn Andreea, Nicita Francesco, Bertini Enrico, Hassin Sharon, Ben Zeev Bruria, Zerem Ayelet, Libzon Stephanie, Lev Dorit, Linder Ilan, Lerman-Sagie Tally, Blumkin Lub |
| Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy. Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2021 Jan . Wernick Anna I, Walton Ronald L, Soto-Beasley Alexandra I, Koga Shunsuke, Heckman Michael G, Valentino Rebecca R, Milanowski Lukasz M, Hoffman-Zacharska Dorota, Koziorowski Dariusz, Hassan Anhar, Uitti Ryan J, Cheshire William P, Singer Wolfgang, Wszolek Zbigniew K, Dickson Dennis W, Low Phillip A, Ross Owen |
| Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 2022 12 8 (6): e200038. Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Vázquez-Costa Juan Francisco, Morata-Martínez Carlos, Campins-Romeu Marina, Muelas Nuria, Sastre-Bataller Isabel, Martínez-Torres Irene, Pérez-García Julia, Sivera Rafael, Sevilla Teresa, Vilchez Juan J, Jaijo Teresa, Espinós Carmen, Millán Jose M, Bataller Luis, Aller Ele |
| Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. International journal of molecular sciences 2023 11 24 (22): . Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espin |
| Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis. European journal of neurology 2024 8 e16441. Xu-Ying Li, Hong Lai, Xian Li, Fanxi Xu, Yang Song, Zhanjun Wang, Qibin Li, Ruichai Lin, Zhiheng Xu, Chaodong Wa |
- Page last reviewed:Feb 1, 2024
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