Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 128 Records) |
Query Trace: ATXN2[original query] |
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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 |
Genome-wide association study of epilepsy in a Japanese population identified an associated region at chromosome 12q24.
Epilepsia 2021 Apr . Suzuki Toshimitsu, Koike Yoshinao, Ashikawa Kyota, Otomo Nao, Takahashi Atsushi, Aoi Tomomi, Kamatani Naoyuki, Nakamura Yusuke, Kubo Michiaki, Kamatani Yoichiro, Momozawa Yukihide, Terao Chikashi, Yamakawa Kazuhi |
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 |
The repeat length of C9orf72 is associated with the survival of amyotrophic lateral sclerosis patients without C9orf72 pathological expansions. Frontiers in neurology 2022 8 13 939775. Tang Lu, Chen Lu, Liu Xiaolu, He Ji, Ma Yan, Zhang Nan, Fan Dongshe |
Systematic evaluation of genetic mutations in ALS: a population-based study. Journal of neurology, neurosurgery, and psychiatry 2022 Jul . Grassano Maurizio, Calvo Andrea, Moglia Cristina, Sbaiz Luca, Brunetti Maura, Barberis Marco, Casale Federico, Manera Umberto, Vasta Rosario, Canosa Antonio, D'Alfonso Sandra, Corrado Lucia, Mazzini Letizia, Dalgard Clifton, Karra Ramita, Chia Ruth, Traynor Bryan, Chiò Adria |
Amyotrophic lateral sclerosis and cerebellum. Scientific reports 2022 Jul 12 (1): 12586. Kabiljo Renata, Iacoangeli Alfredo, Al-Chalabi Ammar, Rosenzweig Iva |
Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis. BMC medicine 2022 6 20 (1): 209. Su Wei-Ming, Gu Xiao-Jing, Duan Qing-Qing, Jiang Zheng, Gao Xia, Shang Hui-Fang, Chen Yong-Pi |
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 |
TXNRD2 (rs35934224) CT genotype and primary open-angle glaucoma: correspondenceReply to "TXNRD2 (rs35934224) CT genotype and primary open-angle glaucoma: correspondence"Primary open-angle glaucomaGenome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucomaGenome-wide association study of primary open-angle glaucoma in continental and admixed African populations. Arquivos brasileiros de oftalmologia 2022 4 85 (2): 214-215. Sookaromdee Pathum, Wiwanitkit Vir |
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 |
Genetic relationships between high blood eosinophil count, asthma susceptibility and asthma severity. The Journal of asthma : official journal of the Association for the Care of Asthma 2023 8 1-15. Huashi Li, Xingnan |
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 |
Genetic variability in sporadic amyotrophic lateral sclerosis. Brain : a journal of neurology 2023 4 . Van Daele Sien Hilde, Moisse Matthieu, van Vugt Joke J F A, Zwamborn Ramona A J, van der Spek Rick, van Rheenen Wouter, Van Eijk Kristel, Kenna Kevin, Corcia Philippe, Vourc'h Patrick, Couratier Philippe, Hardiman Orla, McLaughin Russell, Gotkine Marc, Drory Vivian, Ticozzi Nicola, Silani Vincenzo, Ratti Antonia, de Carvalho Mamede, Mora Pardina Jesús S, Povedano Monica, Andersen Peter M, Weber Markus, Ba?ak Nazli A, Shaw Chris, Shaw Pamela J, Morrison Karen E, Landers John E, Glass Jonathan D, van Es Michael, van den Berg Leonard H, Al-Chalabi Ammar, Veldink Jan, Van Damme Phil |
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients. Scientific reports 2023 2 13 (1): 3187. Manini Arianna, Gagliardi Delia, Meneri Megi, Antognozzi Sara, Del Bo Roberto, Comi Giacomo Pietro, Corti Stefania, Ronchi Dar |
Regulation of kynurenine metabolism by blood donor genetics and biology impacts red cell hemolysis in vitro and in vivo. Blood 2023 11 . Travis Nemkov, Daniel Stephenson, Christopher Erickson, Monika Dzieciatkowska, Alicia Key, Amy Moore, Eric J Earley, Grier P Page, Ian S Lacroix, Mars Stone, Xutao Deng, Thomas J Raife, Steven H Kleinman, James C Zimring, Nareg H Roubinian, Kirk C Hansen, Michael P Busch, Philip J Norris, Angelo D'Alessand |
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 |
Genetic Predictors of the Development of Complications after Coronary Stenting. Journal of personalized medicine 2023 1 13 (1): . Taizhanova Dana, Kalimbetova Akerke, Bodaubay Roza, Toleuova Aliya, Toiynbekova Rakhima, Beysenbekova Zhazira, Visternichan Olga, Tauesheva Zauresh, Kadyrova Irina, Babenko Dmitriy, Akhmaltdinova Lyudmila, Kolesnichenko Svetlana, Kolesnikova Yevgeniya, Avdienko Olga V, Akilzhanova Ainur, Gerotziafas Grigorios |
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 16, 2024
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