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Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics.
Iacoangeli A, Lin T, Al Khleifat A, Jones AR, Opie-Martin S, Coleman JRI, Shatunov A, Sproviero W, Williams KL, Garton F, Restuadi R, Henders AK, Mather KA, Needham M, Mathers S, Nicholson GA, Rowe DB, Henderson R, McCombe PA, Pamphlett R, Blair IP, Schultz D, Sachdev PS, Newhouse SJ, Proitsi P, Fogh I, Ngo ST, Dobson RJB, Wray NR, Steyn FJ, Al-Chalabi A. Iacoangeli A, et al. Cell Rep. 2020 Oct 27;33(4):108323. doi: 10.1016/j.celrep.2020.108323. Cell Rep. 2020. PMID: 33113361 Free PMC article.
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE. Sreedharan J, et al. Science. 2008 Mar 21;319(5870):1668-72. doi: 10.1126/science.1154584. Epub 2008 Feb 28. Science. 2008. PMID: 18309045 Free PMC article.
ALSOD: the Amyotrophic Lateral Sclerosis Online Database.
Wroe R, Wai-Ling Butler A, Andersen PM, Powell JF, Al-Chalabi A. Wroe R, et al. Amyotroph Lateral Scler. 2008 Aug;9(4):249-50. doi: 10.1080/17482960802146106. Amyotroph Lateral Scler. 2008. PMID: 18608099
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.
Simpson CL, Lemmens R, Miskiewicz K, Broom WJ, Hansen VK, van Vught PW, Landers JE, Sapp P, Van Den Bosch L, Knight J, Neale BM, Turner MR, Veldink JH, Ophoff RA, Tripathi VB, Beleza A, Shah MN, Proitsi P, Van Hoecke A, Carmeliet P, Horvitz HR, Leigh PN, Shaw CE, van den Berg LH, Sham PC, Powell JF, Verstreken P, Brown RH Jr, Robberecht W, Al-Chalabi A. Simpson CL, et al. Hum Mol Genet. 2009 Feb 1;18(3):472-81. doi: 10.1093/hmg/ddn375. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996918 Free PMC article.
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE. Vance C, et al. Science. 2009 Feb 27;323(5918):1208-1211. doi: 10.1126/science.1165942. Science. 2009. PMID: 19251628 Free PMC article.
No association of DPP6 with amyotrophic lateral sclerosis in an Italian population.
Fogh I, D'Alfonso S, Gellera C, Ratti A, Cereda C, Penco S, Corrado L, Sorarù G, Castellotti B, Tiloca C, Gagliardi S, Cozzi L, Lupton MK, Ticozzi N, Mazzini L, Shaw CE, Al-Chalabi A, Powell J, Silani V. Fogh I, et al. Neurobiol Aging. 2011 May;32(5):966-7. doi: 10.1016/j.neurobiolaging.2009.05.014. Epub 2009 Jun 13. Neurobiol Aging. 2011. PMID: 19525032
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J. Harold D, et al. Nat Genet. 2009 Oct;41(10):1088-93. doi: 10.1038/ng.440. Epub 2009 Sep 6. Nat Genet. 2009. PMID: 19734902 Free PMC article.
The association between ALS and population density: A population based study.
Scott KM, Abhinav K, Wijesekera L, Ganesalingam J, Goldstein LH, Janssen A, Dougherty A, Willey E, Stanton BR, Turner MR, Ampong MA, Sakel M, Orrell R, Howard R, Shaw CE, Nigel Leigh P, Al-Chalabi A. Scott KM, et al. Amyotroph Lateral Scler. 2010 Oct;11(5):435-8. doi: 10.3109/17482961003754552. Amyotroph Lateral Scler. 2010. PMID: 20429684 Free PMC article.
426 results