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A novel double mutation in FUS gene causing sporadic ALS.
Robertson J, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E. Robertson J, et al. Among authors: mackenzie ir. Neurobiol Aging. 2011 Mar;32(3):553.e27-30. doi: 10.1016/j.neurobiolaging.2010.05.015. Epub 2010 Jun 18. Neurobiol Aging. 2011. PMID: 20561714
FUS pathology in basophilic inclusion body disease.
Munoz DG, Neumann M, Kusaka H, Yokota O, Ishihara K, Terada S, Kuroda S, Mackenzie IR. Munoz DG, et al. Among authors: mackenzie ir. Acta Neuropathol. 2009 Nov;118(5):617-27. doi: 10.1007/s00401-009-0598-9. Epub 2009 Oct 15. Acta Neuropathol. 2009. PMID: 19830439
FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations.
Neumann M, Bentmann E, Dormann D, Jawaid A, DeJesus-Hernandez M, Ansorge O, Roeber S, Kretzschmar HA, Munoz DG, Kusaka H, Yokota O, Ang LC, Bilbao J, Rademakers R, Haass C, Mackenzie IR. Neumann M, et al. Among authors: mackenzie ir. Brain. 2011 Sep;134(Pt 9):2595-609. doi: 10.1093/brain/awr201. Epub 2011 Aug 19. Brain. 2011. PMID: 21856723 Free PMC article.
Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations.
Neumann M, Valori CF, Ansorge O, Kretzschmar HA, Munoz DG, Kusaka H, Yokota O, Ishihara K, Ang LC, Bilbao JM, Mackenzie IR. Neumann M, et al. Among authors: mackenzie ir. Acta Neuropathol. 2012 Nov;124(5):705-16. doi: 10.1007/s00401-012-1020-6. Epub 2012 Jul 28. Acta Neuropathol. 2012. PMID: 22842875
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: mackenzie ir. 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.
282 results