Human Genome Epidemiology Literature Finder
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Records 1 - 19 (of 19 Records) |
| Query Trace: Machado-Joseph Disease and ATXN3[original query] |
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| Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease. Frontiers in neurology 2012 3 . França MC, Emmel VE, D'Abreu A, Maurer-Morelli CV, Secolin R, Bonadia LC, da Silva MS, Nucci A, Jardim LB, Saraiva-Pereira ML, Marques W, Paulson H, Lopes-Cendes I |
| APOE e2 allele may decrease the age at onset in patients with spinocerebellar ataxia type 3 or Machado-Joseph disease from the Chinese Han population. Neurobiology of aging 2014 Sep 35 (9): 2179.e15-8. Peng Huirong, Wang Chunrong, Chen Zhao, Sun Zhanfang, Jiao Bin, Li Kai, Huang Fengzhen, Hou Xuan, Wang Junling, Shen Lu, Xia Kun, Tang Beisha, Jiang Ho |
| The role of apolipoprotein E as a risk factor for an earlier age at onset for Machado-Joseph disease is doubtful. PloS one 2014 9 (11): e111356. Zhou Qi, Ni Wang, Dong Yi, Wang Ning, Gan Shi-Rui, Wu Zhi-Yi |
| 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 |
| Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients. PloS one 2015 10 (2): e0117488. Long Zhe, Chen Zhao, Wang Chunrong, Huang Fengzhen, Peng Huirong, Hou Xuan, Ding Dongxue, Ye Wei, Wang Junling, Pan Qian, Li Jiada, Xia Kun, Tang Beisha, Ashizawa Tetsuo, Jiang Ho |
| 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 |
| 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 |
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 |
| 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 |
| Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing. Neurobiology of disease 2021 12 162 105578. Raposo Mafalda, Bettencourt Conceição, Melo Ana Rosa Vieira, Ferreira Ana F, Alonso Isabel, Silva Paulo, Vasconcelos João, Kay Teresa, Saraiva-Pereira Maria Luiza, Costa Marta D, Vilasboas-Campos Daniela, Bettencourt Bruno Filipe, Bruges-Armas Jácome, Houlden Henry, Heutink Peter, Jardim Laura Bannach, Sequeiros Jorge, Maciel Patrícia, Lima Manue |
| 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 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 |
| Caffeine Consumption and Interaction with ADORA2A, CYP1A2 and NOS1 Variants Do Not Influence Age at Onset of Machado-Joseph Disease. Cerebellum (London, England) 2024 7 . Ana Carolina Martins, Jordânia Dos Santos Pinheiro, Luciana Szinwelski, Eduardo Rockenbach Cidade, Danilo Fernando Santin, Laura Damke Proença, Bruna Almeida Araújo, Maria Luiza Saraiva-Pereira, Laura Bannach Jard |
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