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Nodding syndrome in Uganda is a tauopathy.
Pollanen MS, Onzivua S, Robertson J, McKeever PM, Olawa F, Kitara DL, Fong A. Pollanen MS, et al. Among authors: mckeever pm. Acta Neuropathol. 2018 Nov;136(5):691-697. doi: 10.1007/s00401-018-1909-9. Epub 2018 Sep 15. Acta Neuropathol. 2018. PMID: 30219940 Free PMC article.
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
Xi Z, Zhang M, Bruni AC, Maletta RG, Colao R, Fratta P, Polke JM, Sweeney MG, Mudanohwo E, Nacmias B, Sorbi S, Tartaglia MC, Rainero I, Rubino E, Pinessi L, Galimberti D, Surace EI, McGoldrick P, McKeever P, Moreno D, Sato C, Liang Y, Keith J, Zinman L, Robertson J, Rogaeva E. Xi Z, et al. Acta Neuropathol. 2015 May;129(5):715-27. doi: 10.1007/s00401-015-1401-8. Epub 2015 Feb 26. Acta Neuropathol. 2015. PMID: 25716178 Free article.
Jump from pre-mutation to pathologic expansion in C9orf72.
Xi Z, van Blitterswijk M, Zhang M, McGoldrick P, McLean JR, Yunusova Y, Knock E, Moreno D, Sato C, McKeever PM, Schneider R, Keith J, Petrescu N, Fraser P, Tartaglia MC, Baker MC, Graff-Radford NR, Boylan KB, Dickson DW, Mackenzie IR, Rademakers R, Robertson J, Zinman L, Rogaeva E. Xi Z, et al. Among authors: mckeever pm. Am J Hum Genet. 2015 Jun 4;96(6):962-70. doi: 10.1016/j.ajhg.2015.04.016. Epub 2015 May 21. Am J Hum Genet. 2015. PMID: 26004200 Free PMC article.
Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.
McGoldrick P, Zhang M, van Blitterswijk M, Sato C, Moreno D, Xiao S, Zhang AB, McKeever PM, Weichert A, Schneider R, Keith J, Petrucelli L, Rademakers R, Zinman L, Robertson J, Rogaeva E. McGoldrick P, et al. Among authors: mckeever pm. Neurology. 2018 Jan 23;90(4):e323-e331. doi: 10.1212/WNL.0000000000004865. Epub 2017 Dec 27. Neurology. 2018. PMID: 29282338 Free PMC article.
Downregulation of exosomal miR-204-5p and miR-632 as a biomarker for FTD: a GENFI study.
Schneider R, McKeever P, Kim T, Graff C, van Swieten JC, Karydas A, Boxer A, Rosen H, Miller BL, Laforce R Jr, Galimberti D, Masellis M, Borroni B, Zhang Z, Zinman L, Rohrer JD, Tartaglia MC, Robertson J; Genetic FTD Initiative (GENFI). Schneider R, et al. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):851-858. doi: 10.1136/jnnp-2017-317492. Epub 2018 Feb 6. J Neurol Neurosurg Psychiatry. 2018. PMID: 29434051 Free PMC article.
21 results