Human Genome Epidemiology Literature Finder
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Records 1 - 28 (of 28 Records) |
| Query Trace: Ataxia 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 |
| Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. Neurologia i neurochirurgia polska 0 42 (6): 497-504. Rajkiewicz Marta, Su?ek-Piatkowska Anna, Krysa Wioletta, Zdzienicka Elzbieta, Szirkowiec Walentyna, Zaremba Jac |
| Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. Journal of the neurological sciences 2010 Apr 291 (1-2): 30-6. Mantuano Elide, Romano Silvia, Veneziano Liana, Gellera Cinzia, Castellotti Barbara, Caimi Sara, Testa Daniela, Estienne Margherita, Zorzi Giovanna, Bugiani Marianna, Rajabally Yusuf A, Barcina Maria J Garcìa, Servidei Serena, Panico Aurora, Frontali Marina, Mariotti Cateri |
| Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PloS one 2011 6 (3): e17811. Figueroa Karla P, Waters Michael F, Garibyan Vartan, Bird Thomas D, Gomez Christopher M, Ranum Laura P W, Minassian Natali A, Papazian Diane M, Pulst Stefan |
| ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America. Cerebellum (London, England) 2015 Apr . Pereira Fernanda S, Monte Thais L, Locks-Coelho Lucas D, Silva Amanda S P, Barsottini Orlando, Pedroso José L, Cornejo-Olivas Mario, Mazzetti Pilar, Godeiro Clecio, Vargas Fernando R, Lima Maria-Angélica F D, van der Linden Hélio, Toralles Maria Betânia Pereira, Medeiros Paula F V, Ribeiro Erlane, Braga-Neto Pedro, Salarini Diego, Castilhos Raphael M, Saraiva-Pereira Maria-Luiza, Jardim Laura Bannach, |
| 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 |
| Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors. Parkinsonism & related disorders 2017 Jun . Monte Thais Lampert, Pereira Fernanda Santos, Reckziegel Estela da Rosa, Augustin Marina Coutinho, Locks-Coelho Lucas Dorídio, Santos Amanda Senna P, Pedroso José Luiz, Barsottini Orlando, Vargas Fernando Regla, Saraiva-Pereira Maria-Luiza, Jardim Laura Bannach, |
| A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594. Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra, |
| Genetic Variants Associated with Episodic Ataxia in Korea. Scientific reports 2017 10 7 (1): 13855. Choi Kwang-Dong, Kim Ji-Soo, Kim Hyo-Jung, Jung Ileok, Jeong Seong-Hae, Lee Seung-Han, Kim Dong Uk, Kim Sang-Ho, Choi Seo Young, Shin Jin-Hong, Kim Dae-Seong, Park Kyung-Pil, Kim Hyang-Sook, Choi Jae-Hw |
| Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genetics in medicine : official journal of the American College of Medical Genetics 2018 7 21 (3): 553-563. Valence Stéphanie, Cochet Emmanuelle, Rougeot Christelle, Garel Catherine, Chantot-Bastaraud Sandra, Lainey Elodie, Afenjar Alexandra, Barthez Marie-Anne, Bednarek Nathalie, Doummar Diane, Faivre Laurence, Goizet Cyril, Haye Damien, Heron Bénédicte, Kemlin Isabelle, Lacombe Didier, Milh Mathieu, Moutard Marie-Laure, Riant Florence, Robin Stéphanie, Roubertie Agathe, Sarda Pierre, Toutain Annick, Villard Laurent, Ville Dorothée, Billette de Villemeur Thierry, Rodriguez Diana, Burglen Lyd |
| Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genetics in medicine : official journal of the American College of Medical Genetics 2018 6 21 (1): 195-206. Sun Miao, Johnson Amy Knight, Nelakuditi Viswateja, Guidugli Lucia, Fischer David, Arndt Kelly, Ma Lan, Sandford Erin, Shakkottai Vikram, Boycott Kym, Warman-Chardon Jodi, Li Zejuan, Del Gaudio Daniela, Burmeister Margit, Gomez Christopher M, Waggoner Darrel J, Das So |
| Analysis of CACNA1A CAG repeat lengths in patients with familial ALS. Neurobiology of aging 2018 10 74 235.e5-235.e8. Brenner David, Müller Kathrin, Gastl Regina, Gorges Martin, Otto Markus, Pinkhardt Elmar H, Kassubek Jan, Weishaupt Jochen H, Ludolph Albert |
| Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. Clinical genetics 2019 May . Nicita Francesco, Nardella Marta, Bellacchio Emanuele, Alfieri Paolo, Terrone Gaetano, Piccini Giorgia, Graziola Federica, Pignata Claudio, Capuano Alessandro, Bertini Enrico, Zanni Ginev |
| (CAG) loci as genetic modifiers of age at onset in patients with spinocerebellar ataxia type 1 from mainland China. European journal of neurology 2019 Mar . Wang P, Chen Z, Peng Y, Cao L, Li X, Wang C, Yang H, Peng H, Shi Y, Zhou X, Li T, Feng L, Wu C, Qiu R, Xia K, Tang B, Jiang |
| 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 |
| Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia. Biomedicines 2020 5 8 (5): . Maksemous Neven, Sutherland Heidi G, Smith Robert A, Haupt Larisa M, Griffiths Lyn |
| Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population. Cerebellum (London, England) 2020 Apr . Gonzales-Sáenz Claudia, Cruz-Rodriguez Carolina, Espinoza-Huertas Keren, Véliz-Otani Diego, Marca Victoria, Ortega Olimpio, Milla-Neyra Karina, Alvarez-Tejada Jorge, Mazzetti Pilar, Cornejo-Olivas Mar |
| 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 |
| Effect of CAG repeats on the age at onset of patients with spinocerebellar ataxia type 2 in China. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2021 9 46 (8): 793-799. Li Yu, Liu Zhen, Hou Xiaorong, Chen Zhao, Shen Lu, Xia Kun, Tang Beisha, Jiang Hong, Wang Junli |
| Molecular epidemiology of hereditary ataxia in Finland. BMC neurology 2021 10 21 (1): 382. Lipponen Joonas, Helisalmi Seppo, Raivo Joose, Siitonen Ari, Doi Hiroshi, Rusanen Harri, Lehtilahti Maria, Ryytty Mervi, Laakso Markku, Tanaka Fumiaki, Majamaa Kari, Kytövuori Lau |
| 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 |
| CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications. Frontiers in molecular neuroscience 2022 5 15 860662. Li Xue-Lian, Li Zong-Jun, Liang Xiao-Yu, Liu De-Tian, Jiang Mi, Gao Liang-Di, Li Huan, Tang Xue-Qing, Shi Yi-Wu, Li Bing-Mei, He Na, Li Bin, Bian Wen-Jun, Yi Yong-Hong, Cheng Chuan-Fang, Wang J |
| 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 |
| Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene. Cerebellum (London, England) 2024 6 . Chen-Hao Zhu, Jin-Yang Yu, Yin Ma, Yi Dong, Zhi-Ying |
| Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia. Neurology. Genetics 2024 4 10 (3): e200153. Ivana R Raslan, Thiago Yoshinaga Tonholo Silva, Fernando Kok, Marcelo M Rodrigues, Marcelo M Aragão, Ricardo S Pinho, Marcondes C França, Orlando G Barsottini, José Luiz Pedro |
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