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Effects of cis-regulatory variation differ across regions of the adult human brain.
Buonocore F, Hill MJ, Campbell CD, Oladimeji PB, Jeffries AR, Troakes C, Hortobagyi T, Williams BP, Cooper JD, Bray NJ. Buonocore F, et al. Among authors: hortobagyi t. Hum Mol Genet. 2010 Nov 15;19(22):4490-6. doi: 10.1093/hmg/ddq380. Epub 2010 Sep 9. Hum Mol Genet. 2010. PMID: 20829226 Free PMC article.
p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS.
Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobágyi T, Shaw CE. Al-Sarraj S, et al. Among authors: hortobagyi t. Acta Neuropathol. 2011 Dec;122(6):691-702. doi: 10.1007/s00401-011-0911-2. Epub 2011 Nov 19. Acta Neuropathol. 2011. PMID: 22101323
An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.
Troakes C, Maekawa S, Wijesekera L, Rogelj B, Siklós L, Bell C, Smith B, Newhouse S, Vance C, Johnson L, Hortobágyi T, Shatunov A, Al-Chalabi A, Leigh N, Shaw CE, King A, Al-Sarraj S. Troakes C, et al. Among authors: hortobagyi t. Neuropathology. 2012 Oct;32(5):505-14. doi: 10.1111/j.1440-1789.2011.01286.x. Epub 2011 Dec 19. Neuropathology. 2012. PMID: 22181065
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE. Smith BN, et al. Among authors: hortobagyi t. Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13. Eur J Hum Genet. 2013. PMID: 22692064 Free PMC article.
458 results