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Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S; NYGC ALS Consortium; Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L. Prudencio M, et al. Among authors: fisher em. J Clin Invest. 2020 Nov 2;130(11):6080-6092. doi: 10.1172/JCI139741. J Clin Invest. 2020. PMID: 32790644 Free PMC article.
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.
Urwin H, Josephs KA, Rohrer JD, Mackenzie IR, Neumann M, Authier A, Seelaar H, Van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE; FReJA Consortium; Dickson DW, Rademakers R, Graff-Radford NR, Parisi JE, Petersen RC, Hatanpaa KJ, White CL 3rd, Weiner MF, Geser F, Van Deerlin VM, Trojanowski JQ, Miller BL, Seeley WW, van der Zee J, Kumar-Singh S, Engelborghs S, De Deyn PP, Van Broeckhoven C, Bigio EH, Deng HX, Halliday GM, Kril JJ, Munoz DG, Mann DM, Pickering-Brown SM, Doodeman V, Adamson G, Ghazi-Noori S, Fisher EM, Holton JL, Revesz T, Rossor MN, Collinge J, Mead S, Isaacs AM. Urwin H, et al. Among authors: fisher em. Acta Neuropathol. 2010 Jul;120(1):33-41. doi: 10.1007/s00401-010-0698-6. Epub 2010 May 20. Acta Neuropathol. 2010. PMID: 20490813 Free PMC article.
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S. Fratta P, et al. Among authors: fisher em. Acta Neuropathol. 2013 Sep;126(3):401-9. doi: 10.1007/s00401-013-1147-0. Epub 2013 Jul 2. Acta Neuropathol. 2013. PMID: 23818065 Free PMC article.
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM. Fratta P, et al. Among authors: fisher em. J Neurol Neurosurg Psychiatry. 2014 May;85(5):506-8. doi: 10.1136/jnnp-2013-306761. Epub 2013 Dec 5. J Neurol Neurosurg Psychiatry. 2014. PMID: 24309268 Free PMC article.
323 results