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Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.
Mann DM, Rollinson S, Robinson A, Bennion Callister J, Thompson JC, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M, Davidson Y, Pickering-Brown S. Mann DM, et al. Acta Neuropathol Commun. 2013 Oct 14;1:68. doi: 10.1186/2051-5960-1-68. Acta Neuropathol Commun. 2013. PMID: 24252525 Free PMC article.
Analysis of optineurin in frontotemporal lobar degeneration.
Rollinson S, Bennion J, Toulson G, Halliwell N, Usher S, Snowden J, Richardson A, Neary D, Mann D, Pickering-Brown SM. Rollinson S, et al. Neurobiol Aging. 2012 Feb;33(2):425.e1-2. doi: 10.1016/j.neurobiolaging.2010.10.002. Epub 2010 Nov 12. Neurobiol Aging. 2012. PMID: 21074902
Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.
Rollinson S, Bennion Callister J, Young K, Ryan SJ, Druyeh R, Rohrer JD, Snowden J, Richardson A, Jones M, Harris J, Davidson Y, Robinson A, Ealing J, Johnson JO, Traynor B, Mead S, Mann D, Pickering-Brown SM. Rollinson S, et al. Neurobiol Aging. 2015 Mar;36(3):1601.e1-5. doi: 10.1016/j.neurobiolaging.2014.12.009. Epub 2014 Dec 12. Neurobiol Aging. 2015. PMID: 25595499 Free PMC article.
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, Dickson … See abstract for full author list ➔ Pottier C, et al. Acta Neuropathol. 2019 Jun;137(6):879-899. doi: 10.1007/s00401-019-01962-9. Epub 2019 Feb 9. Acta Neuropathol. 2019. PMID: 30739198 Free PMC article.
Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.
Davidson Y, Robinson AC, Liu X, Wu D, Troakes C, Rollinson S, Masuda-Suzukake M, Suzuki G, Nonaka T, Shi J, Tian J, Hamdalla H, Ealing J, Richardson A, Jones M, Pickering-Brown S, Snowden JS, Hasegawa M, Mann DM. Davidson Y, et al. Among authors: mann dm. Neuropathol Appl Neurobiol. 2016 Apr;42(3):242-54. doi: 10.1111/nan.12292. Epub 2015 Dec 7. Neuropathol Appl Neurobiol. 2016. PMID: 26538301 Free PMC article.
517 results