Human Genome Epidemiology Literature Finder
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Records 1 - 3 (of 3 Records) |
| Query Trace: Neurodegenerative Diseases and UNC13A[original query] |
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| 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, |
| 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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