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The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy.
Hogg M, Grujic ZM, Baker M, Demirci S, Guillozet AL, Sweet AP, Herzog LL, Weintraub S, Mesulam MM, LaPointe NE, Gamblin TC, Berry RW, Binder LI, de Silva R, Lees A, Espinoza M, Davies P, Grover A, Sahara N, Ishizawa T, Dickson D, Yen SH, Hutton M, Bigio EH. Hogg M, et al. Among authors: de silva r. Acta Neuropathol. 2003 Oct;106(4):323-36. doi: 10.1007/s00401-003-0734-x. Epub 2003 Jul 19. Acta Neuropathol. 2003. PMID: 12883828
An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodies.
de Silva R, Lashley T, Strand C, Shiarli AM, Shi J, Tian J, Bailey KL, Davies P, Bigio EH, Arima K, Iseki E, Murayama S, Kretzschmar H, Neumann M, Lippa C, Halliday G, MacKenzie J, Ravid R, Dickson D, Wszolek Z, Iwatsubo T, Pickering-Brown SM, Holton J, Lees A, Revesz T, Mann DM. de Silva R, et al. Acta Neuropathol. 2006 Apr;111(4):329-40. doi: 10.1007/s00401-006-0048-x. Epub 2006 Mar 22. Acta Neuropathol. 2006. PMID: 16552612
Development and assessment of sensitive immuno-PCR assays for the quantification of cerebrospinal fluid three- and four-repeat tau isoforms in tauopathies.
Luk C, Compta Y, Magdalinou N, Martí MJ, Hondhamuni G, Zetterberg H, Blennow K, Constantinescu R, Pijnenburg Y, Mollenhauer B, Trenkwalder C, Van Swieten J, Chiu WZ, Borroni B, Cámara A, Cheshire P, Williams DR, Lees AJ, de Silva R. Luk C, et al. Among authors: de silva r. J Neurochem. 2012 Nov;123(3):396-405. doi: 10.1111/j.1471-4159.2012.07911.x. Epub 2012 Sep 3. J Neurochem. 2012. PMID: 22862741 Free article. Clinical Trial.
The role of tau in the pathological process and clinical expression of Huntington's disease.
Vuono R, Winder-Rhodes S, de Silva R, Cisbani G, Drouin-Ouellet J; REGISTRY Investigators of the European Huntington’s Disease Network; Spillantini MG, Cicchetti F, Barker RA. Vuono R, et al. Among authors: de silva r. Brain. 2015 Jul;138(Pt 7):1907-18. doi: 10.1093/brain/awv107. Epub 2015 May 6. Brain. 2015. PMID: 25953777 Free PMC article.
618 results