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Page 1
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, Hakonar… See abstract for full author list ➔ Van Deerlin VM, et al. Among authors: van swieten jc, van der zee j, van broeckhoven c. 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.
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.
Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C. Cruts M, et al. Among authors: van den broeck m, van der zee j, van duijn c, van broeckhoven c. Nature. 2006 Aug 24;442(7105):920-4. doi: 10.1038/nature05017. Epub 2006 Jul 16. Nature. 2006. PMID: 16862115
A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder.
Bogaerts V, Engelborghs S, Kumar-Singh S, Goossens D, Pickut B, van der Zee J, Sleegers K, Peeters K, Martin JJ, Del-Favero J, Gasser T, Dickson DW, Wszolek ZK, De Deyn PP, Theuns J, Van Broeckhoven C. Bogaerts V, et al. Among authors: van der zee j, van broeckhoven c. Brain. 2007 Sep;130(Pt 9):2277-91. doi: 10.1093/brain/awm167. Epub 2007 Aug 6. Brain. 2007. PMID: 17681982
Serum biomarker for progranulin-associated frontotemporal lobar degeneration.
Sleegers K, Brouwers N, Van Damme P, Engelborghs S, Gijselinck I, van der Zee J, Peeters K, Mattheijssens M, Cruts M, Vandenberghe R, De Deyn PP, Robberecht W, Van Broeckhoven C. Sleegers K, et al. Among authors: van damme p, van der zee j, van broeckhoven c. Ann Neurol. 2009 May;65(5):603-9. doi: 10.1002/ana.21621. Ann Neurol. 2009. PMID: 19288468
No association of PGRN 3'UTR rs5848 in frontotemporal lobar degeneration.
Rollinson S, Rohrer JD, van der Zee J, Sleegers K, Mead S, Engelborghs S, Collinge J, De Deyn PP, Mann DM, Van Broeckhoven C, Pickering-Brown SM. Rollinson S, et al. Among authors: van der zee j, van broeckhoven c. Neurobiol Aging. 2011 Apr;32(4):754-5. doi: 10.1016/j.neurobiolaging.2009.04.009. Epub 2009 May 14. Neurobiol Aging. 2011. PMID: 19446372
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.
Urwin H, Josephs KA, Rohrer JD, Mackenzie IR, Neumann M, Authier A, Seelaar H, Van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE; FReJA Consortium; Dickson DW, Rademakers R, Graff-Radford NR, Parisi JE, Petersen RC, Hatanpaa KJ, White CL 3rd, Weiner MF, Geser F, Van Deerlin VM, Trojanowski JQ, Miller BL, Seeley WW, van der Zee J, Kumar-Singh S, Engelborghs S, De Deyn PP, Van Broeckhoven C, Bigio EH, Deng HX, Halliday GM, Kril JJ, Munoz DG, Mann DM, Pickering-Brown SM, Doodeman V, Adamson G, Ghazi-Noori S, Fisher EM, Holton JL, Revesz T, Rossor MN, Collinge J, Mead S, Isaacs AM. Urwin H, et al. Among authors: van swieten jc, van der zee j, van broeckhoven c, van deerlin vm. Acta Neuropathol. 2010 Jul;120(1):33-41. doi: 10.1007/s00401-010-0698-6. Epub 2010 May 20. Acta Neuropathol. 2010. PMID: 20490813 Free PMC article.
524 results