Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 34 Records) |
| Query Trace: Ataxia and ATXN3[original query] |
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| Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population. PloS one 2015 10 (8): e0134405. Gan Shi-Rui, Ni Wang, Dong Yi, Wang Ning, Wu Zhi-Yi |
| High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression. Cerebellum (London, England) 2015 Apr . Shi Yuting, Wang Chunrong, Huang Fengzhen, Chen Zhao, Sun Zhanfang, Wang Junling, Tang Beisha, Ashizawa Tetsuo, Klockgether Thomas, Jiang Ho |
| 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 |
| Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients. Neuromolecular medicine 2016 May . Raposo Mafalda, Bettencourt Conceição, Ramos Amanda, Kazachkova Nadiya, Vasconcelos João, Kay Teresa, Bruges-Armas Jácome, Lima Manue |
| 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, |
| Association Between Body Mass Index and Disease Severity in Chinese Spinocerebellar Ataxia Type 3 Patients. Cerebellum (London, England) 2018 2 17 (4): 494-498. Yang Jin-Shan, Chen Ping-Ping, Lin Min-Ting, Qian Mei-Zhen, Lin Hui-Xia, Chen Xiao-Ping, Shang Xian-Jin, Wang Dan-Ni, Chen Yu-Chao, Jiang Bin, Chen Yi-Jun, Wang Ning, Chen Wan-Jin, Gan Shi-R |
| Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations. European journal of neurology 2018 11 26 (3): 506-512. Ramos A, Planchat M, Vieira Melo A R, Raposo M, Shamim U, Suroliya V, Srivastava A K, Faruq M, Morino H, Ohsawa R, Kawakami H, Bannach Jardim L, Saraiva-Pereira M L, Vasconcelos J, Santos C, Lima |
| 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 |
| Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor. European journal of human genetics : EJHG 2019 6 27 (11): 1731-1737. Sharony Reuven, Martins Sandra, Costa Inês P D, Zaltzman Roy, Amorim António, Sequeiros Jorge, Gordon Carlos |
| Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins? Frontiers in genetics 2018 9 740. Li Tianjiao, Martins Sandra, Peng Yun, Wang Puzhi, Hou Xiaocan, Chen Zhao, Wang Chunrong, Tang Zhaoli, Qiu Rong, Chen Chao, Hu Zhengmao, Xia Kun, Tang Beisha, Sequeiros Jorge, Jiang Ho |
| (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 |
| 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 |
| Gene-Related Cerebellar Neurodegeneration in SCA3/MJD: A Case-Controlled Imaging-Genetic Study. Frontiers in neurology 2019 10 10 1025. Peng Huirong, Liang Xiaochun, Long Zhe, Chen Zhao, Shi Yuting, Xia Kun, Meng Li, Tang Beisha, Qiu Rong, Jiang Ho |
| Association of serum neurofilament light and disease severity in patients with spinocerebellar ataxia type 3. Neurology 2020 8 95 (22): e2977-e2987. Peng Yun, Zhang Youming, Chen Zhao, Peng Huirong, Wan Na, Zhang Jennifer, Tang Jingyi, Wang Puzhi, Xie Yue, Cai Qiyong, Liu Shaohui, Zhang Xuewei, Wang Chunrong, Yuan Hongyu, Li Tianjiao, Wan Linlin, Shi Yuting, Qiu Rong, Klockgether Thomas, Tang Beisha, Liao Weihua, Jiang Ho |
| Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3. Molecular genetics & genomic medicine 2020 7 8 (9): e1314. Li Quan-Fu, Cheng Hao-Ling, Yang Lu, Ma Yin, Zhao Jing-Jing, Dong Yi, Wu Zhi-Yi |
| 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 |
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.
Aging 2020 03 12 (6): 4742-4756. Akçimen Fulya, Martins Sandra, Liao Calwing, Bourassa Cynthia V, Catoire Hélène, Nicholson Garth A, Riess Olaf, Raposo Mafalda, França Marcondes C, Vasconcelos João, Lima Manuela, Lopes-Cendes Iscia, Saraiva-Pereira Maria Luiza, Jardim Laura B, Sequeiros Jorge, Dion Patrick A, Rouleau Guy |
| 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 |
| Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype. Journal of molecular neuroscience : MN 2021 6 71 (9): 1906-1913. Martins Ana Carolina, Rieck Mariana, Leotti Vanessa Bielefeldt, Saraiva-Pereira Maria Luiza, Jardim Laura Banna |
| 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 |
| Machado Joseph-Disease Is Rare in the Peruvian Population. Cerebellum (London, England) 2022 11 . Cornejo-Olivas Mario, Solis-Ponce Lesly, Araujo-Aliaga Ismael, Milla-Neyra Karina, Ortega Olimpio, Illanes-Manrique Maryenela, Mazzetti Pilar, Manrique-Enciso Carla, Cubas-Montecino Diana, Saraiva-Pereira Maria Luiza, Jardim Laura B, Sarapura-Castro Elis |
| 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 |
| The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta neuropathologica 2024 8 148 (1): 14. Jonasz J Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana D Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Jorge Sequeiros, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes C França, Carlos R Gordon, Roy Zaltzman, Mario R Cornejo-Olivas, Bart P C van de Warrenburg, Alexandra Durr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf Riess, , Thorsten Schmi |
| Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China. Movement disorders : official journal of the Movement Disorder Society 2024 12 . Lijing Lei, Linliu Peng, Linlin Wan, Zhao Chen, Chunrong Wang, Huirong Peng, Rong Qiu, Beisha Tang, Hong Jia |
| Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3. Journal of neurology 2024 12 272 (1): 54. Tim Lukas Elter, Daniel Sturm, Magda M Santana, Tamara Schaprian, Mafalda Raposo, Ana Rosa Vieira Melo, Manuela Lima, Berkan Koyak, Demet Oender, Marcus Grobe-Einsler, Sara Lopes, Patrick Silva, Luís Pereira de Almeida, Paola Giunti, Hector Garcia-Moreno, Suran Nethisinhe, Jeroen de Vries, Bart P van de Warrenburg, Judith van Gaalen, Matthis Synofzik, Ludger Schöls, Kathrin Reetz, Friedrich Erdlenbruch, Heike Jacobi, Jon Infante, Olaf Riess, Thomas Klockgether, , Jennifer Faber, Jeannette Hübener-Schm |
| Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease. Human genetics 2024 10 . Ahmed M Sidky, Ana Rosa Vieira Melo, Teresa T Kay, Mafalda Raposo, Manuela Lima, Darren G Monckt |
| Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia. International journal of molecular sciences 2024 10 25 (20): . Fatemeh Ghorbani, Eddy N de Boer, Michiel R Fokkens, Jelkje de Boer-Bergsma, Corien C Verschuuren-Bemelmans, Elles Wierenga, Hamidreza Kasaei, Daan Noordermeer, Dineke S Verbeek, Helga Westers, Cleo C van Diem |
- Page last reviewed:Feb 1, 2024
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