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The MAPT H1 haplotype is associated with tangle-predominant dementia.
Santa-Maria I, Haggiagi A, Liu X, Wasserscheid J, Nelson PT, Dewar K, Clark LN, Crary JF. Santa-Maria I, et al. Acta Neuropathol. 2012 Nov;124(5):693-704. doi: 10.1007/s00401-012-1017-1. Epub 2012 Jul 17. Acta Neuropathol. 2012. PMID: 22802095 Free PMC article.
Primary age-related tauopathy (PART): a common pathology associated with human aging.
Crary JF, Trojanowski JQ, Schneider JA, Abisambra JF, Abner EL, Alafuzoff I, Arnold SE, Attems J, Beach TG, Bigio EH, Cairns NJ, Dickson DW, Gearing M, Grinberg LT, Hof PR, Hyman BT, Jellinger K, Jicha GA, Kovacs GG, Knopman DS, Kofler J, Kukull WA, Mackenzie IR, Masliah E, McKee A, Montine TJ, Murray ME, Neltner JH, Santa-Maria I, Seeley WW, Serrano-Pozo A, Shelanski ML, Stein T, Takao M, Thal DR, Toledo JB, Troncoso JC, Vonsattel JP, White CL 3rd, Wisniewski T, Woltjer RL, Yamada M, Nelson PT. Crary JF, et al. Acta Neuropathol. 2014 Dec;128(6):755-66. doi: 10.1007/s00401-014-1349-0. Epub 2014 Oct 28. Acta Neuropathol. 2014. PMID: 25348064 Free PMC article.
A Drosophila Model of Essential Tremor.
Smith P, Arias R, Sonti S, Odgerel Z, Santa-Maria I, McCabe BD, Tsaneva-Atanasova K, Louis ED, Hodge JJL, Clark LN. Smith P, et al. Sci Rep. 2018 May 16;8(1):7664. doi: 10.1038/s41598-018-25949-w. Sci Rep. 2018. PMID: 29769701 Free PMC article.
RNA methyltransferase NSun2 deficiency promotes neurodegeneration through epitranscriptomic regulation of tau phosphorylation.
Kim YA, Siddiqui T, Blaze J, Cosacak MI, Winters T, Kumar A, Tein E, Sproul AA, Teich AF, Bartolini F, Akbarian S, Kizil C, Hargus G, Santa-Maria I. Kim YA, et al. Among authors: santa maria i. Acta Neuropathol. 2023 Jan;145(1):29-48. doi: 10.1007/s00401-022-02511-7. Epub 2022 Nov 10. Acta Neuropathol. 2023. PMID: 36357715 Free PMC article.
55 results