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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: freeman sh. 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.
TAR-DNA binding protein 43 in Pick disease.
Freeman SH, Spires-Jones T, Hyman BT, Growdon JH, Frosch MP. Freeman SH, et al. J Neuropathol Exp Neurol. 2008 Jan;67(1):62-7. doi: 10.1097/nen.0b013e3181609361. J Neuropathol Exp Neurol. 2008. PMID: 18091558
No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration.
Skoglund L, Ingvast S, Matsui T, Freeman SH, Frosch MP, Brundin R, Giedraitis V, Growdon JH, Hyman BT, Lannfelt L, Ingelsson M, Glaser A. Skoglund L, et al. Among authors: freeman sh. Dement Geriatr Cogn Disord. 2009;28(5):471-5. doi: 10.1159/000260046. Epub 2009 Nov 23. Dement Geriatr Cogn Disord. 2009. PMID: 19940479 Free PMC article.
Novel progranulin mutation detected in 2 patients with FTLD.
Skoglund L, Matsui T, Freeman SH, Wallin A, Blom ES, Frosch MP, Growdon JH, Hyman BT, Lannfelt L, Ingelsson M, Glaser A. Skoglund L, et al. Among authors: freeman sh. Alzheimer Dis Assoc Disord. 2011 Apr-Jun;25(2):173-8. doi: 10.1097/WAD.0b013e3181fbc22c. Alzheimer Dis Assoc Disord. 2011. PMID: 20975516 Free PMC article.
Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brains.
Ingelsson M, Ramasamy K, Russ C, Freeman SH, Orne J, Raju S, Matsui T, Growdon JH, Frosch MP, Ghetti B, Brown RH, Irizarry MC, Hyman BT. Ingelsson M, et al. Among authors: freeman sh. Acta Neuropathol. 2007 Nov;114(5):471-9. doi: 10.1007/s00401-007-0280-z. Epub 2007 Aug 25. Acta Neuropathol. 2007. PMID: 17721707
Plasma Abeta levels do not reflect brain Abeta levels.
Freeman SH, Raju S, Hyman BT, Frosch MP, Irizarry MC. Freeman SH, et al. J Neuropathol Exp Neurol. 2007 Apr;66(4):264-71. doi: 10.1097/NEN.0b013e31803d3ae4. J Neuropathol Exp Neurol. 2007. PMID: 17413317
Molecular imaging with Pittsburgh Compound B confirmed at autopsy: a case report.
Bacskai BJ, Frosch MP, Freeman SH, Raymond SB, Augustinack JC, Johnson KA, Irizarry MC, Klunk WE, Mathis CA, Dekosky ST, Greenberg SM, Hyman BT, Growdon JH. Bacskai BJ, et al. Among authors: freeman sh. Arch Neurol. 2007 Mar;64(3):431-4. doi: 10.1001/archneur.64.3.431. Arch Neurol. 2007. PMID: 17353389
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