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The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts.
Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, Lees A, Leung D, McKeith IG, Perry RH, Morris CM, Trojanowski JQ, Clark C, Karlawish J, Arnold S, Forman MS, Van Deerlin V, de Silva R, Hardy J. Myers AJ, et al. Among authors: pittman am. Neurobiol Dis. 2007 Mar;25(3):561-70. doi: 10.1016/j.nbd.2006.10.018. Epub 2006 Dec 15. Neurobiol Dis. 2007. PMID: 17174556
The H1c haplotype at the MAPT locus is associated with Alzheimer's disease.
Myers AJ, Kaleem M, Marlowe L, Pittman AM, Lees AJ, Fung HC, Duckworth J, Leung D, Gibson A, Morris CM, de Silva R, Hardy J. Myers AJ, et al. Among authors: pittman am. Hum Mol Genet. 2005 Aug 15;14(16):2399-404. doi: 10.1093/hmg/ddi241. Epub 2005 Jul 6. Hum Mol Genet. 2005. PMID: 16000317
Tangle diseases and the tau haplotypes.
Hardy J, Pittman A, Myers A, Fung HC, de Silva R, Duckworth J. Hardy J, et al. Among authors: pittman a. Alzheimer Dis Assoc Disord. 2006 Jan-Mar;20(1):60-2. doi: 10.1097/01.wad.0000201853.54493.d8. Alzheimer Dis Assoc Disord. 2006. PMID: 16493238
MAPT S305I mutation: implications for argyrophilic grain disease.
Kovacs GG, Pittman A, Revesz T, Luk C, Lees A, Kiss E, Tariska P, Laszlo L, Molnár K, Molnar MJ, Tolnay M, de Silva R. Kovacs GG, et al. Among authors: pittman a. Acta Neuropathol. 2008 Jul;116(1):103-18. doi: 10.1007/s00401-007-0322-6. Epub 2007 Dec 8. Acta Neuropathol. 2008. PMID: 18066559
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.
Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM. Fratta P, et al. Among authors: pittman a. Neurobiol Aging. 2015 Jan;36(1):546.e1-7. doi: 10.1016/j.neurobiolaging.2014.07.037. Epub 2014 Aug 1. Neurobiol Aging. 2015. PMID: 25179228 Free PMC article.
Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.
Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R, Holton JL, Revesz T, Sweeney MG, Singleton AB, Lees AJ, Bhatia KP, Houlden H. Schottlaender LV, et al. Among authors: pittman a. Neurobiol Aging. 2015 Feb;36(2):1221.e1-6. doi: 10.1016/j.neurobiolaging.2014.08.024. Epub 2014 Aug 27. Neurobiol Aging. 2015. PMID: 25308964 Free PMC article.
The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.
Kara E, Ling H, Pittman AM, Shaw K, de Silva R, Simone R, Holton JL, Warren JD, Rohrer JD, Xiromerisiou G, Lees A, Hardy J, Houlden H, Revesz T. Kara E, et al. Among authors: pittman am. Neurobiol Aging. 2012 Sep;33(9):2231.e7-2231.e14. doi: 10.1016/j.neurobiolaging.2012.04.006. Epub 2012 May 16. Neurobiol Aging. 2012. PMID: 22595371 Free PMC article.
The architecture of the tau haplotype block in different ethnicities.
Fung HC, Evans J, Evans W, Duckworth J, Pittman A, de Silva R, Myers A, Hardy J. Fung HC, et al. Among authors: pittman a. Neurosci Lett. 2005 Mar 29;377(2):81-4. doi: 10.1016/j.neulet.2004.11.072. Epub 2004 Dec 22. Neurosci Lett. 2005. PMID: 15740841
279 results