Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Frontotemporal Dementia 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 |
| 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 |
| Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Molecular neurodegeneration 2014 9 38. van Blitterswijk Marka, Mullen Bianca, Wojtas Aleksandra, Heckman Michael G, Diehl Nancy N, Baker Matthew C, DeJesus-Hernandez Mariely, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Neumann Manuela, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
| 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 |
| 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, |
| 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 |
| 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 |
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- Page last updated:May 30, 2023
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