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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer RL, Bigio EH, Mesulam M, Al-Sarraj S, Troakes C, Rosenberg RN, White CL 3rd, Ferrer I, Lladó A, Neumann M, Kretzschmar HA, Hulette CM, Welsh-Bohmer KA, Miller BL, Alzualde A, Lopez de Munain A, McKee AC, Gearing M, Levey AI, Lah JJ, Hardy J, Rohrer JD, Lashley T, Mackenzie IR, Feldman HH, Hamilton RL, Dekosky ST, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Mayeux R, Vonsattel JP, Troncoso JC, Kril JJ, Kwok JB, Halliday GM, Bird TD, Ince PG, Shaw PJ, Cairns NJ, Morris JC, McLean CA, DeCarli C, Ellis WG, Freeman SH, Frosch MP, Growdon JH, Perl DP, Sano M, Bennett DA, Schneider JA, Beach TG, Reiman EM, Woodruff BK, Cummings J, Vinters HV, Miller CA, Chui HC, Alafuzoff I, Hartikainen P, Seilhean D, Galasko D, Masliah E, Cotman CW, Tuñón MT, Martínez MC, Munoz DG, Carroll SL, Marson D, Riederer PF, Bogdanovic N, Schellenberg GD, Hakonarson H, Trojanowski JQ… See abstract for full author list ➔ Van Deerlin VM, et al. Among authors: kwok jb. Nat Genet. 2010 Mar;42(3):234-9. doi: 10.1038/ng.536. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154673 Free PMC article.
Mutations in progranulin explain atypical phenotypes with variants in MAPT.
Pickering-Brown SM, Baker M, Gass J, Boeve BF, Loy CT, Brooks WS, Mackenzie IR, Martins RN, Kwok JB, Halliday GM, Kril J, Schofield PR, Mann DM, Hutton M. Pickering-Brown SM, et al. Among authors: kwok jb. Brain. 2006 Nov;129(Pt 11):3124-6. doi: 10.1093/brain/awl289. Brain. 2006. PMID: 17071927
Variable phenotype of Alzheimer's disease with spastic paraparesis.
Karlstrom H, Brooks WS, Kwok JB, Broe GA, Kril JJ, McCann H, Halliday GM, Schofield PR. Karlstrom H, et al. Among authors: kwok jb. J Neurochem. 2008 Feb;104(3):573-83. doi: 10.1111/j.1471-4159.2007.05038.x. Epub 2007 Nov 6. J Neurochem. 2008. PMID: 17995932 Free article. Review.
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.
Luty AA, Kwok JB, Dobson-Stone C, Loy CT, Coupland KG, Karlström H, Sobow T, Tchorzewska J, Maruszak A, Barcikowska M, Panegyres PK, Zekanowski C, Brooks WS, Williams KL, Blair IP, Mather KA, Sachdev PS, Halliday GM, Schofield PR. Luty AA, et al. Among authors: kwok jb. Ann Neurol. 2010 Nov;68(5):639-49. doi: 10.1002/ana.22274. Ann Neurol. 2010. PMID: 21031579
196 results