Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 45 Records) |
Query Trace: ATXN3[original query] |
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Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression. Translational psychiatry 2017 Jun 7 (6): e1143. Gardiner S L, van Belzen M J, Boogaard M W, van Roon-Mom W M C, Rozing M P, van Hemert A M, Smit J H, Beekman A T F, van Grootheest G, Schoevers R A, Oude Voshaar R C, Comijs H C, Penninx B W J H, van der Mast R C, Roos R A C, Aziz N |
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, |
Repeat length variations in polyglutamine disease-associated genes affect body mass index. International journal of obesity (2005) 2018 Aug . Gardiner Sarah L, de Mutsert Renée, Trompet Stella, Boogaard Merel W, van Dijk Ko Willems, Jukema P J Wouter, Slagboom P Eline, Roos Raymund A C, Pijl Hanno, Rosendaal Frits R, Aziz N Ahm |
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 |
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 |
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 |
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 |
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 |
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 |
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.
Communications biology 2020 Sep 3 (1): 526. Nakamura Ryoichi, Misawa Kazuharu, Tohnai Genki, Nakatochi Masahiro, Furuhashi Sho, Atsuta Naoki, Hayashi Naoki, Yokoi Daichi, Watanabe Hazuki, Watanabe Hirohisa, Katsuno Masahisa, Izumi Yuishin, Kanai Kazuaki, Hattori Nobutaka, Morita Mitsuya, Taniguchi Akira, Kano Osamu, Oda Masaya, Shibuya Kazumoto, Kuwabara Satoshi, Suzuki Naoki, Aoki Masashi, Ohta Yasuyuki, Yamashita Toru, Abe Koji, Hashimoto Rina, Aiba Ikuko, Okamoto Koichi, Mizoguchi Kouichi, Hasegawa Kazuko, Okada Yohei, Ishihara Tomohiko, Onodera Osamu, Nakashima Kenji, Kaji Ryuji, Kamatani Yoichiro, Ikegawa Shiro, Momozawa Yukihide, Kubo Michiaki, Ishida Noriko, Minegishi Naoko, Nagasaki Masao, Sobue G |
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 |
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics. Cell reports 2020 Oct 33 (4): 108323. Iacoangeli Alfredo, Lin Tian, Al Khleifat Ahmad, Jones Ashley R, Opie-Martin Sarah, Coleman Jonathan R I, Shatunov Aleksey, Sproviero William, Williams Kelly L, Garton Fleur, Restuadi Restuadi, Henders Anjali K, Mather Karen A, Needham Merilee, Mathers Susan, Nicholson Garth A, Rowe Dominic B, Henderson Robert, McCombe Pamela A, Pamphlett Roger, Blair Ian P, Schultz David, Sachdev Perminder S, Newhouse Stephen J, Proitsi Petroula, Fogh Isabella, Ngo Shyuan T, Dobson Richard J B, Wray Naomi R, Steyn Frederik J, Al-Chalabi Amm |
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 |
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 |
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 |
ADHD-associated PARK2 copy number variants: A pilot study on gene expression and effects of supplementary deprivation in patient-derived cell lines. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2022 8 189 (7-8): 257-270. Radtke Franziska, Palladino Viola Stella, McNeill Rhiannon V, Chiocchetti Andreas G, Haslinger Denise, Leyh Matthias, Gersic Danijel, Frank Markus, Grünewald Lena, Klebe Stephan, Brüstle Oliver, Günther Katharina, Edenhofer Frank, Kranz Thorsten M, Reif Andreas, Kittel-Schneider Sar |
Genomic features of Chinese small cell lung cancer. BMC medical genomics 2022 May 15 (1): 117. Liu Jun, Zhao Zhuxiang, Wei Shuquan, Li Binkai, Zhao Ziw |
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 |
Whole genome sequencing versus chromosomal microarray analysis in prenatal diagnosis. American journal of obstetrics and gynecology 2023 3 . Hu Ping, Zhang Qinxin, Cheng Qing, Luo Chunyu, Zhang Cuiping, Zhou Ran, Meng Lulu, Huang Mingtao, Wang Yuguo, Wang Yan, Qiao Fengchang, Xu Zhengfe |
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- Page last updated:Apr 29, 2024
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