Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 36 Records) |
Query Trace: Ataxia and ATXN2[original query] |
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ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population. PloS one 2012 7 (8): e42956. Lahut Suna, Ömür Özgür, Uyan Özgün, A??m Zeynep Sena, Özo?uz Aslihan, Parman Ye?im, Deymeer Feza, Oflazer Piraye, Koç Filiz, Özçelik Hilmi, Auburger Georg, Ba?ak A Naz |
CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. Neurobiology of aging 2012 Aug 33 (8): 1852.e1-3. Groen Ewout J N, van Rheenen Wouter, Koppers Max, van Doormaal Perry T C, Vlam Lotte, Diekstra Frank P, Dooijes Dennis, Pasterkamp R Jeroen, van den Berg Leonard H, Veldink Jan |
De novo mutations in ataxin-2 gene and ALS risk. PloS one 2013 8 (8): e70560. Laffita-Mesa José Miguel, Rodríguez Pupo Jorge Michel, Moreno Sera Raciel, Vázquez Mojena Yaimee, Kourí Vivian, Laguna-Salvia Leonides, Martínez-Godales Michael, Valdevila Figueira José A, Bauer Peter O, Rodríguez-Labrada Roberto, González Zaldívar Yanetza, Paucar Martin, Svenningsson Per, Velázquez Pérez Lu |
ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis. Neurobiology of aging 2013 Sep 34 (9): 2236.e5-8. Liu Xiaolu, Lu Ming, Tang Lu, Zhang Nan, Chui Dehua, Fan Dongshe |
Association analysis of a functional variant in ATXN2 with schizophrenia. Neuroscience letters 2014 Mar 562 24-7. Zhang Fuquan, Wang Guoqiang, Shugart Yin Yao, Xu Yong, Liu Chenxing, Wang Lifang, Lu Tianlan, Yan Hao, Ruan Yanyan, Cheng Zaohuo, Tian Lin, Jin Chunhui, Yuan Janmin, Wang Zhiqiang, Zhu Wei, Cao Leiming, Liu Yansong, Yue Weihua, Zhang D |
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain : a journal of neurology 2014 Sep 137 (Pt 9): 2444-55. Tezenas du Montcel Sophie, Durr Alexandra, Bauer Peter, Figueroa Karla P, Ichikawa Yaeko, Brussino Alessandro, Forlani Sylvie, Rakowicz Maria, Schöls Ludger, Mariotti Caterina, van de Warrenburg Bart P C, Orsi Laura, Giunti Paola, Filla Alessandro, Szymanski Sandra, Klockgether Thomas, Berciano José, Pandolfo Massimo, Boesch Sylvia, Melegh Bela, Timmann Dagmar, Mandich Paola, Camuzat Agnès, , , Goto Jun, Ashizawa Tetsuo, Cazeneuve Cécile, Tsuji Shoji, Pulst Stefan-M, Brusco Alfredo, Riess Olaf, Brice Alexis, Stevanin Giovan |
Amyotrophic lateral sclerosis risk for spinocerebellar ataxia type 2 ATXN2 CAG repeat alleles: a meta-analysis. JAMA neurology 2014 Dec 71 (12): 1529-34. Neuenschwander Annalese G, Thai Khanh K, Figueroa Karla P, Pulst Stefan |
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. Journal of human genetics 2015 Nov . Paradisi Irene, Ikonomu Vassiliki, Arias Serg |
Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2. Journal of the neurological sciences 2017 Jan 372 324-328. Almaguer-Mederos Luis E, Almaguer-Gotay Dennis, Aguilera-Rodríguez Raúl, González-Zaldívar Yanetza, Cuello-Almarales Dany, Laffita-Mesa José, Vázquez-Mojena Yaimé, Zayas-Feria Pedro, Rodríguez-Labrada Roberto, Velázquez-Pérez Luis, MacLeod Patri |
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, |
A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci. Journal of the neurological sciences 2018 Jul 390 200-204. Baine Fiona K, Peerbhai Nabeelah, Krause Aman |
Analysis of (CAG) expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy. Scientific reports 2018 Mar 8 (1): 3889. Zhou X, Wang C, Ding D, Chen Z, Peng Y, Peng H, Hou X, Wang P, Hou X, Ye W, Li T, Yang H, Qiu R, Xia K, Sequeiros J, Tang B, Jiang |
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 |
Genetic risk factors for modulation of age at onset in Machado-Joseph disease/spinocerebellar ataxia type 3: a systematic review and meta-analysis. Journal of neurology, neurosurgery, and psychiatry 2018 10 90 (2): 203-210. de Mattos Eduardo Preusser, Kolbe Musskopf Maiara, Bielefeldt Leotti Vanessa, Saraiva-Pereira Maria Luiza, Jardim Laura Banna |
Han Chinese family with early-onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene. Brain and behavior 2019 8 9 (9): e01372. Huang Ting, Gao Chen-Yu, Wu Liang, Gong Peng-Yu, Wang Ji-Zheng, Tian You-Yong, Zhang Ying-Do |
(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 |
One?carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2. Journal of the neurological sciences 2019 Nov 409 116586. Almaguer-Mederos Luis E, Jorge-Sainz Yasnay, Almaguer-Gotay Dennis, Aguilera-Rodríguez Raúl, Rodríguez-Labrada Roberto, Velázquez-Pérez Luis, González-Zaldívar Yanetza, Cuello-Almarales Dany, Vázquez-Mojena Yaimé, Canales-Ochoa Nalia, Aguiar-Santiago Jorge, Auburger Georg, MacLeod Patri |
Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. Neuromolecular medicine 2019 Oct . Mergener Rafaella, Furtado Gabriel Vasata, de Mattos Eduardo Preusser, Leotti Vanessa Bielefeldt, Jardim Laura Bannach, Saraiva-Pereira Maria Lui |
Investigating TBP CAG/CAA trinucleotide repeat expansions in a Taiwanese cohort with ALS. Amyotrophic lateral sclerosis & frontotemporal degeneration 2020 12 22 (5-6): 442-447. Jih Kang-Yang, Lin Kon-Ping, Tsai Pei-Chien, Soong Bing-Wen, Liao Yi-Chu, Lee Yi-Chu |
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 1 41 (6): 1475-1482. Mongelli Alessia, Magri Stefania, Salvatore Elena, Rizzo Elena, De Rosa Anna, Fico Tommasina, Gatti Marta, Gellera Cinzia, Taroni Franco, Mariotti Caterina, Nanetti Loren |
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 |
The RNA-binding protein and stress granule component ATAXIN-2 is expressed in mouse and human tissues associated with glaucoma pathogenesis. The Journal of comparative neurology 2021 8 530 (2): 537-552. Sundberg Chad A, Lakk Monika, Paul Sharan, P Figueroa Karla, Scoles Daniel R, Pulst Stefan M, Križaj Dav |
SCA2 in the Indian population: Unified haplotype and variable phenotypic patterns in a large case series. Parkinsonism & related disorders 2021 7 89 139-145. Sonakar Akhilesh K, Shamim Uzma, Srivastava Mv Padma, Faruq Mohd, Srivastava Achal |
Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans. IBRO neuroscience reports 2021 6 10 130-135. Nel Melissa, Mavundla Thandeka, Gultig Kayleigh, Botha Gerrit, Mulder Nicola, Benatar Michael, Wuu Joanne, Cooley Anne, Myers Jason, Rampersaud Evadnie, Wu Gang, Heckmann Jeannine |
Body Mass Index Is Significantly Associated With Disease Severity in Spinocerebellar Ataxia Type 2 Patients. Movement disorders : official journal of the Movement Disorder Society 2021 2 36 (6): 1372-1380. Almaguer-Mederos Luis E, Pérez-Ávila Ilbedis, Aguilera-Rodríguez Raúl, Velázquez-Garcés Maria, Almaguer-Gotay Dennis, Hechavarría-Pupo Ricardo, Rodríguez-Estupiñán Annelié, Auburger Geo |
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 |
DNA methylation age acceleration is associated with age of onset in Chinese spinocerebellar ataxia type 3 patients. Neurobiology of aging 2022 3 113 1-6. Li Jiahao, Shu Anli, Sun Yimin, Yang Wanli, Tang Xuelin, Pu Hongjiang, Peng Yun, Hu Xiaowen, Qing Ying, Wang Jian, Wan Chunling, Zhou Mingcheng, Zhang Mi |
The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China. NPJ Parkinson's disease 2023 5 9 (1): 76. Yi-Min Sun, Xin-Yue Zhou, Xiao-Niu Liang, Jin-Ran Lin, Yi-Dan Xu, Chen Chen, Si-Di Wei, Qi-Si Chen, Feng-Tao Liu, Jue Zhao, Yi-Lin Tang, Bo Shen, Lin-Hua Gan, Boxun Lu, Zheng-Tong Ding, Yu An, Jian-Jun Wu, Jian Wa |
Spinocerebellar ataxia type 2 has multiple ancestral origins. Parkinsonism & related disorders 2024 1 120 105985. Lucas Schenatto Sena, Gabriel Vasata Furtado, José Luiz Pedroso, Orlando Barsottini, Mario Cornejo-Olivas, Paulo Ribeiro Nóbrega, Pedro Braga Neto, Danyela Martins Bezerra Soares, Fernando Regla Vargas, Clecio Godeiro, Paula Frassinetti Vasconcelos de Medeiros, Claudia Camejo, Maria Betania Pereira Toralles, Nelson Jurandi Rosa Fagundes, Laura Bannach Jardim, Maria Luiza Saraiva-Pereira, |
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- Page last updated:Apr 22, 2024
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