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Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria.
Strong MJ, Abrahams S, Goldstein LH, Woolley S, Mclaughlin P, Snowden J, Mioshi E, Roberts-South A, Benatar M, HortobáGyi T, Rosenfeld J, Silani V, Ince PG, Turner MR. Strong MJ, et al. Among authors: hortobagyi t. Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):153-174. doi: 10.1080/21678421.2016.1267768. Epub 2017 Jan 5. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 28054827 Free PMC article. Review.
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.
Post-mortem assessment in vascular dementia: advances and aspirations.
McAleese KE, Alafuzoff I, Charidimou A, De Reuck J, Grinberg LT, Hainsworth AH, Hortobagyi T, Ince P, Jellinger K, Gao J, Kalaria RN, Kovacs GG, Kövari E, Love S, Popovic M, Skrobot O, Taipa R, Thal DR, Werring D, Wharton SB, Attems J. McAleese KE, et al. Among authors: hortobagyi t. BMC Med. 2016 Aug 26;14(1):129. doi: 10.1186/s12916-016-0676-5. BMC Med. 2016. PMID: 27600683 Free PMC article. Review.
A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration.
Solomon DA, Stepto A, Au WH, Adachi Y, Diaper DC, Hall R, Rekhi A, Boudi A, Tziortzouda P, Lee YB, Smith B, Bridi JC, Spinelli G, Dearlove J, Humphrey DM, Gallo JM, Troakes C, Fanto M, Soller M, Rogelj B, Parsons RB, Shaw CE, Hortobágyi T, Hirth F. Solomon DA, et al. Among authors: hortobagyi t. Brain. 2018 Oct 1;141(10):2908-2924. doi: 10.1093/brain/awy241. Brain. 2018. PMID: 30239641 Free PMC article.
TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations.
Maekawa S, Leigh PN, King A, Jones E, Steele JC, Bodi I, Shaw CE, Hortobagyi T, Al-Sarraj S. Maekawa S, et al. Among authors: hortobagyi t. Neuropathology. 2009 Dec;29(6):672-83. doi: 10.1111/j.1440-1789.2009.01029.x. Epub 2009 Jun 3. Neuropathology. 2009. PMID: 19496940
Neuropathological assessments of the pathology in frontotemporal lobar degeneration with TDP43-positive inclusions: an inter-laboratory study by the BrainNet Europe consortium.
Alafuzoff I, Pikkarainen M, Neumann M, Arzberger T, Al-Sarraj S, Bodi I, Bogdanovic N, Bugiani O, Ferrer I, Gelpi E, Gentleman S, Giaccone G, Graeber MB, Hortobagyi T, Ince PG, Ironside JW, Kavantzas N, King A, Korkolopoulou P, Kovács GG, Meyronet D, Monoranu C, Nilsson T, Parchi P, Patsouris E, Revesz T, Roggendorf W, Rozemuller A, Seilhean D, Streichenberger N, Thal DR, Wharton SB, Kretzschmar H. Alafuzoff I, et al. Among authors: hortobagyi t. J Neural Transm (Vienna). 2015 Jul;122(7):957-72. doi: 10.1007/s00702-014-1304-1. Epub 2014 Sep 20. J Neural Transm (Vienna). 2015. PMID: 25239189 Free article.
458 results