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Page 1
C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity.
Selvaraj BT, Livesey MR, Zhao C, Gregory JM, James OT, Cleary EM, Chouhan AK, Gane AB, Perkins EM, Dando O, Lillico SG, Lee YB, Nishimura AL, Poreci U, Thankamony S, Pray M, Vasistha NA, Magnani D, Borooah S, Burr K, Story D, McCampbell A, Shaw CE, Kind PC, Aitman TJ, Whitelaw CBA, Wilmut I, Smith C, Miles GB, Hardingham GE, Wyllie DJA, Chandran S. Selvaraj BT, et al. Among authors: aitman tj. Nat Commun. 2018 Jan 24;9(1):347. doi: 10.1038/s41467-017-02729-0. Nat Commun. 2018. PMID: 29367641 Free PMC article.
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
Black HA, Leighton DJ, Cleary EM, Rose E, Stephenson L, Colville S, Ross D, Warner J, Porteous M, Gorrie GH, Swingler R, Goldstein D, Harms MB, Connick P, Pal S, Aitman TJ, Chandran S. Black HA, et al. Among authors: aitman tj. Neurobiol Aging. 2017 Mar;51:178.e11-178.e20. doi: 10.1016/j.neurobiolaging.2016.12.013. Epub 2016 Dec 21. Neurobiol Aging. 2017. PMID: 28089114 Free PMC article.
Corrigendum to "Genetic epidemiology of motor neuron disease-associated variants in the Scottish population." [Neurobiol. Aging 51 (2017) 178.e11-178.e20].
Black HA, Leighton DJ, Cleary EM, Rose E, Stephenson L, Colville S, Ross D, Warner J, Porteous M, Gorrie GH, Swingler R, Goldstein D, Harms MB, Connick P, Pal S, Aitman TJ, Chandran S. Black HA, et al. Among authors: aitman tj. Neurobiol Aging. 2017 Aug;56:214. doi: 10.1016/j.neurobiolaging.2017.04.019. Neurobiol Aging. 2017. PMID: 28606583 Free PMC article. No abstract available.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Malaria susceptibility and CD36 mutation.
Aitman TJ, Cooper LD, Norsworthy PJ, Wahid FN, Gray JK, Curtis BR, McKeigue PM, Kwiatkowski D, Greenwood BM, Snow RW, Hill AV, Scott J. Aitman TJ, et al. Nature. 2000 Jun 29;405(6790):1015-6. doi: 10.1038/35016636. Nature. 2000. PMID: 10890433 No abstract available.
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Among authors: aitman tj. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans.
Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, Hodges MD, Bhangal G, Patel SG, Sheehan-Rooney K, Duda M, Cook PR, Evans DJ, Domin J, Flint J, Boyle JJ, Pusey CD, Cook HT. Aitman TJ, et al. Nature. 2006 Feb 16;439(7078):851-5. doi: 10.1038/nature04489. Nature. 2006. PMID: 16482158
160 results