Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Amyotrophic Lateral Sclerosis and UNC13A[original query] |
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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
Nature genetics 2009 Oct 41 (10): 1083-7. van Es Michael A, Veldink Jan H, Saris Christiaan G J, Blauw Hylke M, van Vught Paul W J, Birve Anna, Lemmens Robin, Schelhaas Helenius J, Groen Ewout J N, Huisman Mark H B, van der Kooi Anneke J, de Visser Marianne, Dahlberg Caroline, Estrada Karol, Rivadeneira Fernando, Hofman Albert, Zwarts Machiel J, van Doormaal Perry T C, Rujescu Dan, Strengman Eric, Giegling Ina, Muglia Pierandrea, Tomik Barbara, Slowik Agnieszka, Uitterlinden Andre G, Hendrich Corinna, Waibel Stefan, Meyer Thomas, Ludolph Albert C, Glass Jonathan D, Purcell Shaun, Cichon Sven, Nöthen Markus M, Wichmann H-Erich, Schreiber Stefan, Vermeulen Sita H H M, Kiemeney Lambertus A, Wokke John H J, Cronin Simon, McLaughlin Russell L, Hardiman Orla, Fumoto Katsumi, Pasterkamp R Jeroen, Meininger Vincent, Melki Judith, Leigh P Nigel, Shaw Christopher E, Landers John E, Al-Chalabi Ammar, Brown Robert H, Robberecht Wim, Andersen Peter M, Ophoff Roel A, van den Berg Leonard |
| Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. Archives of neurology 2010 Apr 67 (4): 516-7. Daoud Hussein, Belzil Véronique, Desjarlais Anne, Camu William, Dion Patrick A, Rouleau Guy |
| UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiology of aging 2011 Nov . Diekstra FP, van Vught PW, Rheenen WV, Koppers M, Pasterkamp RJ, van Es MA, Schelhaas HJ, de Visser M, Robberecht W, Van Damme P, Andersen PM, van den Berg LH, Veldink JH |
| UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study. Neurobiology of aging 2013 Jan 34 (1): 357.e1-5. Chiò Adriano, Mora Gabriele, Restagno Gabriella, Brunetti Maura, Ossola Irene, Barberis Marco, Ferrucci Luigi, Canosa Antonio, Manera Umberto, Moglia Cristina, Fuda Giuseppe, Traynor Bryan J, Calvo Andr |
| Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3. Neurobiology of aging 2013 May 34 (5): 1518.e5-7. Koppers Max, Groen Ewout J N, van Vught Paul W J, van Rheenen Wouter, Witteveen Esther, van Es Michael A, Pasterkamp R Jeroen, van den Berg Leonard H, Veldink Jan |
| C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
Annals of neurology 2014 Jul 76 (1): 120-33. Diekstra Frank P, Van Deerlin Vivianna M, van Swieten John C, Al-Chalabi Ammar, Ludolph Albert C, Weishaupt Jochen H, Hardiman Orla, Landers John E, Brown Robert H, van Es Michael A, Pasterkamp R Jeroen, Koppers Max, Andersen Peter M, Estrada Karol, Rivadeneira Fernando, Hofman Albert, Uitterlinden André G, van Damme Philip, Melki Judith, Meininger Vincent, Shatunov Aleksey, Shaw Christopher E, Leigh P Nigel, Shaw Pamela J, Morrison Karen E, Fogh Isabella, Chiò Adriano, Traynor Bryan J, Czell David, Weber Markus, Heutink Peter, de Bakker Paul I W, Silani Vincenzo, Robberecht Wim, van den Berg Leonard H, Veldink Jan |
| Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2014 Jul 35 (7): 1089-95. Chen Xueping, Huang Rui, Chen Yongping, Zheng Zhenzhen, Chen Ke, Song Wei, Zhao Bi, Yang Yuan, Yuan Lixing, Shang Huifa |
| Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration 2016 Sep 1-7. Gaastra Benjamin, Shatunov Aleksey, Pulit Sara, Jones Ashley R, Sproviero William, Gillett Alexandra, Chen Zhongbo, Kirby Janine, Fogh Isabella, Powell John F, Leigh P Nigel, Morrison Karen E, Shaw Pamela J, Shaw Christopher E, van den Berg Leonard H, Veldink Jan H, Lewis Cathryn M, Al-Chalabi Amm |
| Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers. Neurobiology of aging 2015 Dec . Dekker Annelot M, Seelen Meinie, van Doormaal Perry T C, van Rheenen Wouter, Bothof Reinoud J P, van Riessen Tim, Brands William J, van der Kooi Anneke J, de Visser Marianne, Voermans Nicol C, Pasterkamp R Jeroen, Veldink Jan H, van den Berg Leonard H, van Es Michael |
| Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials. Neurology 2017 Oct . van Eijk Ruben P A, Jones Ashley R, Sproviero William, Shatunov Aleksey, Shaw Pamela J, Leigh P Nigel, Young Carolyn A, Shaw Christopher E, Mora Gabriele, Mandrioli Jessica, Borghero Giuseppe, Volanti Paolo, Diekstra Frank P, van Rheenen Wouter, Verstraete Esther, Eijkemans Marinus J C, Veldink Jan H, Chio Adriano, Al-Chalabi Ammar, van den Berg Leonard H, van Es Michael A, |
| Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum. JAMA neurology 2018 Jul 75 (7): 860-875. Karch Celeste M, Wen Natalie, Fan Chun C, Yokoyama Jennifer S, Kouri Naomi, Ross Owen A, Höglinger Gunter, Müller Ulrich, Ferrari Raffaele, Hardy John, Schellenberg Gerard D, Sleiman Patrick M, Momeni Parastoo, Hess Christopher P, Miller Bruce L, Sharma Manu, Van Deerlin Vivianna, Smeland Olav B, Andreassen Ole A, Dale Anders M, Desikan Rahul S, |
| UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis. Neurobiology of aging 2019 01 73 190-199. Placek Katerina, Baer G Michael, Elman Lauren, McCluskey Leo, Hennessy Laura, Ferraro Pilar M, Lee Edward B, Lee Virginia M Y, Trojanowski John Q, Van Deerlin Vivianna M, Grossman Murray, Irwin David J, McMillan Corey |
| UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019 Jun . Yang Baiyuan, Jiang Haixia, Wang Fang, Li Shimei, Wu Chongmin, Bao Jianjian, Zhu Yongyun, Xu Zhong, Liu Bin, Ren Hui, Yang Xinglo |
| Pharmacogenetic interactions in amyotrophic lateral sclerosis: a step closer to a cure? The pharmacogenomics journal 2019 Oct . van Eijk Ruben P A, Eijkemans Marinus J C, Nikolakopoulos Stavros, Jansen Marc D, Westeneng Henk-Jan, van Eijk Kristel R, van der Spek Rick A A, van Vugt Joke J F A, Piepers Sanne, Groeneveld Geert-Jan, Veldink Jan H, van den Berg Leonard H, van Es Michael |
| The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis. Annals of neurology 2020 7 88 (4): 796-806. Tan Harold H G, Westeneng Henk-Jan, van der Burgh Hannelore K, van Es Michael A, Bakker Leonhard A, van Veenhuijzen Kevin, van Eijk Kristel R, van Eijk Ruben P A, Veldink Jan H, van den Berg Leonard |
| 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 |
| Integrating functional genomics with genetics to understand the biology of ALS and FTD. Med (New York, N.Y.) 2022 04 3 (4): 226-227. Cruchaga Carl |
| TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature 2022 2 603 (7899): 131-137. Brown Anna-Leigh, Wilkins Oscar G, Keuss Matthew J, Hill Sarah E, Zanovello Matteo, Lee Weaverly Colleen, Bampton Alexander, Lee Flora C Y, Masino Laura, Qi Yue A, Bryce-Smith Sam, Gatt Ariana, Hallegger Martina, Fagegaltier Delphine, Phatnani Hemali, , Newcombe Jia, Gustavsson Emil K, Seddighi Sahba, Reyes Joel F, Coon Steven L, Ramos Daniel, Schiavo Giampietro, Fisher Elizabeth M C, Raj Towfique, Secrier Maria, Lashley Tammaryn, Ule Jernej, Buratti Emanuele, Humphrey Jack, Ward Michael E, Fratta Piet |
| TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A. Nature 2022 2 603 (7899): 124-130. Ma X Rosa, Prudencio Mercedes, Koike Yuka, Vatsavayai Sarat C, Kim Garam, Harbinski Fred, Briner Adam, Rodriguez Caitlin M, Guo Caiwei, Akiyama Tetsuya, Schmidt H Broder, Cummings Beryl B, Wyatt David W, Kurylo Katherine, Miller Georgiana, Mekhoubad Shila, Sallee Nathan, Mekonnen Gemechu, Ganser Laura, Rubien Jack D, Jansen-West Karen, Cook Casey N, Pickles Sarah, Oskarsson Björn, Graff-Radford Neill R, Boeve Bradley F, Knopman David S, Petersen Ronald C, Dickson Dennis W, Shorter James, Myong Sua, Green Eric M, Seeley William W, Petrucelli Leonard, Gitler Aaron |
| Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial. Trials 2022 12 23 (1): 978. Willemse Sean W, Roes Kit C B, Van Damme Philip, Hardiman Orla, Ingre Caroline, Povedano Monica, Wray Naomi R, Gijzen Marleen, de Pagter Mirjam S, Demaegd Koen C, Janse Annemarie F C, Vink Roel G, Sleutjes Boudewijn T H M, Chiò Adriano, Corcia Philippe, Reviers Evy, Al-Chalabi Ammar, Kiernan Matthew C, van den Berg Leonard H, van Es Michael A, van Eijk Ruben P |
| Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis. Neurology. Genetics 2022 10 8 (6): e200033. Calvo Andrea, Canosa Antonio, Moglia Cristina, Manera Umberto, Grassano Maurizio, Vasta Rosario, Palumbo Francesca, Cugnasco Paolo, Gallone Salvatore, Brunetti Maura, De Marchi Fabiola, Arena Vincenzo, Pagani Marco, Dalgard Clifton, Scholz Sonja W, Chia Ruth, Corrado Lucia, Dalfonso Sandra, Mazzini Letizia, Traynor Bryan J, Chio Adria |
| 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 |
| Association of the risk factor UNC13A with survival and upper motor neuron involvement in amyotrophic lateral sclerosis. Frontiers in aging neuroscience 2023 2 15 1067954. Manini Arianna, Casiraghi Valeria, Brusati Alberto, Maranzano Alessio, Gentile Francesco, Colombo Eleonora, Bonetti Ruggero, Peverelli Silvia, Invernizzi Sabrina, Gentilini Davide, Messina Stefano, Verde Federico, Poletti Barbara, Fogh Isabella, Morelli Claudia, Silani Vincenzo, Ratti Antonia, Ticozzi Nico |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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