Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 52 Records) |
| Query Trace: Amyotrophic Lateral Sclerosis and ATXN2[original query] |
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| The evolving genetic risk for sporadic ALS. Neurology 2017 Jul 89 (3): 226-233. Gibson Summer B, Downie Jonathan M, Tsetsou Spyridoula, Feusier Julie E, Figueroa Karla P, Bromberg Mark B, Jorde Lynn B, Pulst Stefan |
| Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis. Neurobiology of aging 2017 Oct . Tsai Pei-Chien, Liao Yi-Chu, Chen Po-Lin, Guo Yuh-Cherng, Chen Ying-Hao, Jih Kang-Yang, Lin Kon-Ping, Soong Bing-Wen, Tsai Ching-Paio, Lee Yi-Chu |
| OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017 10 177 (1): 75-85. Farhan Sali M K, Gendron Tania F, Petrucelli Leonard, Hegele Robert A, Strong Michael |
| Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients. Neurobiology of aging 2018 6 69 292.e15-292.e18. Tavares de Andrade Helen Maia, Cintra Vívian Pedigone, de Albuquerque Milena, Piccinin Camila Callegari, Bonadia Luciana Cardoso, Duarte Couteiro Rafael Esteves, Sabino de Oliveira Daniel, Claudino Rinaldo, Magno Gonçalves Marcos Vinicius, Dourado Mario Emilio Teixeira, de Souza Leonardo Cruz, Teixeira Antônio Lúcio, de Godoy Rousseff Prado Laura, Tumas Vitor, Bulle Oliveira Acary Souza, Nucci Anamarli, Lopes-Cendes Iscia, Marques Wilson, França Marcondes |
| Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis. Neurobiology of aging 2018 May . Narain Priyam, Pandey Ashutosh, Gupta Shruti, Gomes James, Bhatia Rohit, Vivekanandan Perum |
| Analysis of ATXN2 trinucleotide repeats in Korean patients with amyotrophic lateral sclerosis. Neurobiology of aging 2018 4 67 201.e5-201.e8. Kim Young-Eun, Oh Ki-Wook, Noh Min-Young, Park Jinseok, Kim Hee-Jung, Park Jong Eun, Ki Chang-Seok, Kim Seung Hy |
| ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia. Neurobiology of aging 2019 01 73 231.e7-231.e9. Rubino Elisa, Mancini Cecilia, Boschi Silvia, Ferrero Patrizia, Ferrone Marina, Bianca Stefano, Zucca Milena, Orsi Laura, Pinessi Lorenzo, Govone Flora, Vacca Alessandro, Gai Annalisa, Giordana Maria Teresa, Brusco Alfredo, Rainero Innocen |
| Analysis of CACNA1A CAG repeat lengths in patients with familial ALS. Neurobiology of aging 2018 10 74 235.e5-235.e8. Brenner David, Müller Kathrin, Gastl Regina, Gorges Martin, Otto Markus, Pinkhardt Elmar H, Kassubek Jan, Weishaupt Jochen H, Ludolph Albert |
| Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients. Neurogenetics 2019 8 20 (4): 197-208. Narain Priyam, Padhi Aditya K, Dave Upma, Mishra Dibyakanti, Bhatia Rohit, Vivekanandan Perumal, Gomes Jam |
| Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations. Neurogenetics 2019 Mar . Naruse Hiroya, Matsukawa Takashi, Ishiura Hiroyuki, Mitsui Jun, Takahashi Yuji, Takano Hiroki, Goto Jun, Toda Tatsushi, Tsuji Sho |
| Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis. Neurology 2020 9 95 (24): e3394-e3405. Yuan Yanchun, Liu Zhen, Hou Xuan, Li Wanzhen, Ni Jie, Huang Ling, Hu Yiting, Liu Pan, Hou Xiaorong, Xue Jin, Sun Qiying, Tian Yun, Jiao Bin, Duan Ranhui, Jiang Hong, Shen Lu, Tang Beisha, Wang Junli |
| Investigating TBP CAG/CAA trinucleotide repeat expansions in a Taiwanese cohort with ALS. Amyotrophic lateral sclerosis & frontotemporal degeneration 2020 12 22 (5-6): 442-447. Jih Kang-Yang, Lin Kon-Ping, Tsai Pei-Chien, Soong Bing-Wen, Liao Yi-Chu, Lee Yi-Chu |
| Metal(loid)s role in the pathogenesis of amyotrophic lateral sclerosis: Environmental, epidemiological, and genetic data. Environmental research 2020 10 192 110292. Tesauro Marina, Bruschi Maurizio, Filippini Tommaso, D'Alfonso Sandra, Mazzini Letizia, Corrado Lucia, Consonni Michela, Vinceti Marco, Fusi Paola, Urani Chia |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
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