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Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Rademakers R, et al. Among authors: mackenzie ir. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.
Piccardo P, Dlouhy SR, Lievens PM, Young K, Bird TD, Nochlin D, Dickson DW, Vinters HV, Zimmerman TR, Mackenzie IR, Kish SJ, Ang LC, De Carli C, Pocchiari M, Brown P, Gibbs CJ Jr, Gajdusek DC, Bugiani O, Ironside J, Tagliavini F, Ghetti B. Piccardo P, et al. Among authors: mackenzie ir. J Neuropathol Exp Neurol. 1998 Oct;57(10):979-88. doi: 10.1097/00005072-199810000-00010. J Neuropathol Exp Neurol. 1998. PMID: 9786248
The neuropathology and biochemistry of frontotemporal dementia.
Munoz DG, Dickson DW, Bergeron C, Mackenzie IR, Delacourte A, Zhukareva V. Munoz DG, et al. Among authors: mackenzie ir. Ann Neurol. 2003;54 Suppl 5:S24-8. doi: 10.1002/ana.10571. Ann Neurol. 2003. PMID: 12833365 Review. No abstract available.
alpha-Internexin aggregates are abundant in neuronal intermediate filament inclusion disease (NIFID) but rare in other neurodegenerative diseases.
Cairns NJ, Uryu K, Bigio EH, Mackenzie IR, Gearing M, Duyckaerts C, Yokoo H, Nakazato Y, Jaros E, Perry RH, Arnold SE, Lee VM, Trojanowski JQ. Cairns NJ, et al. Among authors: mackenzie ir. Acta Neuropathol. 2004 Sep;108(3):213-23. doi: 10.1007/s00401-004-0882-7. Epub 2004 May 28. Acta Neuropathol. 2004. PMID: 15170578 Free PMC article.
295 results