Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 86 Records) |
| Query Trace: Disease and ATXN2[original query] |
|---|
| 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 |
| VNTR (CAG)n polymorphism of the ATXN2 gene and metabolic parameters of cardiovascular risk associated with the degree of obesity in the Amerindian population of Oaxaca. Endocrinologia, diabetes y nutricion 2021 Aug . Dávalos-Rodríguez Nory O, Rincón-Sánchez Ana Rosa, Madrigal Ruiz Perla Montserrat, Flores-Alvarado Luis Javier, López-Toledo Sabina, Villafán-Bernal José Rafael, Castro-Juárez Carlos J, Guzmán-López Rufina, Siliceo-Murrieta José Isaías, Ramírez-García Sergio Alber |
| 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 |
| Genotype-associated cerebellar profiles in ALS: focal cerebellar pathology and cerebro-cerebellar connectivity alterations. Journal of neurology, neurosurgery, and psychiatry 2021 6 92 (11): 1197-1205. Bede Peter, Chipika Rangariroyashe H, Christidi Foteini, Hengeveld Jennifer C, Karavasilis Efstratios, Argyropoulos Georgios D, Lope Jasmin, Li Hi Shing Stacey, Velonakis Georgios, Dupuis Léonie, Doherty Mark A, Vajda Alice, McLaughlin Russell L, Hardiman Or |
| The Shared Genetic Basis of Hyperuricemia, Gout, and Kidney Function. Seminars in nephrology 2021 3 40 (6): 586-599. Leask Megan P, Sumpter Nicholas A, Lupi Alexa S, Vazquez Ana I, Reynolds Richard J, Mount David B, Merriman Tony |
| Pediatric Non-Alcoholic Fatty Liver Disease is Affected by Genetic Variants Involved in Lifespan/Healthspan. Journal of pediatric gastroenterology and nutrition 2021 Mar . Crudele Annalisa, Dato Serena, Re Oriana Lo, Maugeri Andrea, Sanna Paola, Giallongo Sebastiano, Oben Jude, Panera Nadia, De Rango Francesco, Mosca Antonella, Rose Giuseppina, Passarino Giuseppe, Alisi Anna, Vinciguerra Manl |
| 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 |
| Genetic analysis of ALS cases in the isolated island population of Malta. European journal of human genetics : EJHG 2021 1 29 (4): 604-614. Borg Rebecca, Farrugia Wismayer Maia, Bonavia Karl, Farrugia Wismayer Andrew, Vella Malcolm, van Vugt Joke J F A, Kenna Brendan J, Kenna Kevin P, Vassallo Neville, Veldink Jan H, Cauchi Ruben |
| 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 |
| Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes. Journal of human genetics 2021 Jan . Cerqueira Juliana X M, Saavalainen Päivi, Kurppa Kalle, Laurikka Pilvi, Huhtala Heini, Nykter Matti, L E Koskinen Lotta, Yohannes Dawit A, Kilpeläinen Elina, Shcherban Anastasia, Palotie Aarno, Kaukinen Katri, Lindfors Kat |
| Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats. Journal of neurology, neurosurgery, and psychiatry 2022 8 93 (11): 1216-20. Chio Adriano, Moglia Cristina, Canosa Antonio, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Gallone Salvatore, Brunetti Maura, Barberis Marco, De Marchi Fabiola, Dalgard Clifton, Chia Ruth, Mora Gabriele, Iazzolino Barbara, Peotta Laura, Traynor Bryan, Corrado Lucia, D'Alfonso Sandra, Mazzini Letizia, Calvo Andr |
| Amyotrophic lateral sclerosis and cerebellum. Scientific reports 2022 Jul 12 (1): 12586. Kabiljo Renata, Iacoangeli Alfredo, Al-Chalabi Ammar, Rosenzweig Iva |
| Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants. Neurobiology of aging 2022 Aug 116 1-11. Nagy Zsófia Flóra, Pál Margit, Salamon András, Kafui Esi Zodanu Gloria, Füstös Dalma, Klivényi Péter, Széll Már |
| The Clinical and Polynucleotide Repeat Expansion Analysis of ATXN2, NOP56, AR and C9orf72 in Patients With ALS From Mainland China. Frontiers in neurology 2022 5 13 811202. Hou Xiaorong, Li Wanzhen, Liu Pan, Liu Zhen, Yuan Yanchun, Ni Jie, Shen Lu, Tang Beisha, Wang Junli |
Causal Association and Shared Genetics Between Asthma and COVID-19.
Frontiers in immunology 2022 4 13 705379. Baranova Ancha, Cao Hongbao, Chen Jiu, Zhang Fuqu |
| 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 |
| VNTR (CAG)n polymorphism of the ATXN2 gene and metabolic parameters of cardiovascular risk associated with the degree of obesity in the Amerindian population of Oaxaca. Endocrinologia, diabetes y nutricion 2022 Jan 69 (1): 15-24. Dávalos-Rodríguez Nory O, Rincón-Sánchez Ana Rosa, Madrigal Ruiz Perla Montserrat, Flores-Alvarado Luis Javier, López-Toledo Sabina, Villafán-Bernal José Rafael, Castro-Juárez Carlos J, Guzmán-López Rufina, Siliceo-Murrieta José Isaías, Ramirez-Garcia Sergio Alber |
| Putative regulatory functions of SNPs associated with bronchial asthma, arterial hypertension and their comorbid phenotype. Vavilovskii zhurnal genetiki i selektsii 2021 Dec 25 (8): 855-863. Goncharova I A, Bragina E Yu, Zhalsanova I Zh, Freidin M B, Nazarenko M |
| Increased expression of TNFRSF14 and LIGHT in biliary epithelial cells of patients with primary sclerosing cholangitis. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2023 9 . Sachiko Kanai, Hiroaki Fujiwara, Suguru Mizuno, Takahiro Kishikawa, Takuma Nakatsuka, Tsuyoshi Hamada, Mariko Tanaka, Junichi Arita, Yousuke Nakai, Hiroyuki Isayama, Masato Kasuga, Ryosuke Tateishi, Keisuke Tateishi, Tetsuo Ushiku, Kiyoshi Hasegawa, Kazuhiko Koike, Mitsuhiro Fujishi |
| Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis. Neurology 2023 5 . Adriano Chio, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Rosario Vasta, Francesca Palumbo, Salvatore Gallone, Maura Brunetti, Marco Barberis, Fabiola De Marchi, Clifton Dalgard, Ruth Chia, Gabriele Mora, Barbara Iazzolino, Laura Peotta, Bryan J Traynor, Lucia Corrado, Sandra Dalfonso, Letizia Mazzini, Andrea Cal |
| 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 |
| Risk factors of amyotrophic lateral sclerosis: a global meta-summary. Frontiers in neuroscience 2023 5 17 1177431. Qing-Qing Duan, Zheng Jiang, Wei-Ming Su, Xiao-Jing Gu, Han Wang, Yang-Fan Cheng, Bei Cao, Xia Gao, Yi Wang, Yong-Ping Ch |
| Polycystic Ovarian Syndrome Physiologic Pathways Implicated Through Clustering of Genetic Loci. The Journal of clinical endocrinology and metabolism 2023 11 . Maria I Stamou, Kirk T Smith, Hyunkyung Kim, Ravikumar Balasubramanian, Kathryn J Gray, Miriam Udl |
| Progressive Cerebrocerebellar Uncoupling in Sporadic and Genetic Forms of Amyotrophic Lateral Sclerosis. Neurology 2024 6 103 (2): e209623. Marlene Tahedl, Ee Ling Tan, Jana Kleinerova, Siobhan Delaney, Jennifer C Hengeveld, Mark A Doherty, Russell L Mclaughlin, Pierre-Francois Pradat, Cédric Raoul, Fabrice Ango, Orla Hardiman, Kai Ming Chang, Jasmin Lope, Peter Be |
| Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy. Cells 2024 4 13 (8): . Paola Ruffo, Francesca De Amicis, Vincenzo La Bella, Francesca Luisa Confor |
| Meta-analyses uncover the genetic architecture of Idiopathic Inflammatory Myopathies. Arthritis & rheumatology (Hoboken, N.J.) 2024 12 . Catherine Zhu, Younghun Han, Jinyoung Byun, Xiangjun Xiao, Simon Rothwell, Frederick W Miller, Ingrid E Lundberg, Peter K Gregersen, Jiri Vencovsky, Vikram R Shaw, Neil McHugh, Vidya Limaye, Albert Selva-O'Callaghan, Michael G Hanna, Pedro M Machado, Lauren M Pachman, Ann M Reed, Lisa G Rider, Øyvind Molberg, Olivier Benveniste, Timothy Radstake, Andrea Doria, Jan L De Bleecker, Boel De Paepe, Britta Maurer, William E Ollier, Leonid Padyukov, Lucy R Wedderburn, Hector Chinoy, Janine A Lamb, Christopher I Amos, |
| Mutation Screening of ATXN1, ATXN2, and ATXN3 in Amyotrophic Lateral Sclerosis. Molecular neurobiology 2024 11 . Tianmi Yang, Qianqian Wei, Dejiang Pang, Yangfan Cheng, Jingxuan Huang, Junyu Lin, Yi Xiao, Qirui Jiang, Shichan Wang, Chunyu Li, Huifang Sha |
| Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease. NPJ Parkinson's disease 2024 10 10 (1): 188. Clodagh Towns, Zih-Hua Fang, Manuela M X Tan, Simona Jasaityte, Theresa M Schmaderer, Eleanor J Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M Lange, Anthony H V Schapira, Kailash P Bhatia, , , Andrew B Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W Wood, Paul R Jarman, Huw R Morris, Raquel Re |
- Page last reviewed:Feb 1, 2024
- Content source: