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Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT.
Sposito T, Preza E, Mahoney CJ, Setó-Salvia N, Ryan NS, Morris HR, Arber C, Devine MJ, Houlden H, Warner TT, Bushell TJ, Zagnoni M, Kunath T, Livesey FJ, Fox NC, Rossor MN, Hardy J, Wray S. Sposito T, et al. Among authors: hardy j. Hum Mol Genet. 2015 Sep 15;24(18):5260-9. doi: 10.1093/hmg/ddv246. Epub 2015 Jul 1. Hum Mol Genet. 2015. PMID: 26136155 Free PMC article.
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation.
Pickering-Brown S, Baker M, Bird T, Trojanowski J, Lee V, Morris H, Rossor M, Janssen JC, Neary D, Craufurd D, Richardson A, Snowden J, Hardy J, Mann D, Hutton M. Pickering-Brown S, et al. Among authors: hardy j. Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):79-82. doi: 10.1002/ajmg.b.20083. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 14755449
Genome-wide analysis of the parkinsonism-dementia complex of Guam.
Morris HR, Steele JC, Crook R, Wavrant-De Vrièze F, Onstead-Cardinale L, Gwinn-Hardy K, Wood NW, Farrer M, Lees AJ, McGeer PL, Siddique T, Hardy J, Perez-Tur J. Morris HR, et al. Among authors: hardy j. Arch Neurol. 2004 Dec;61(12):1889-97. doi: 10.1001/archneur.61.12.1889. Arch Neurol. 2004. PMID: 15596609
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. Neumann J, et al. Among authors: hardy j. Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13. Brain. 2009. PMID: 19286695 Free PMC article.
3,488 results