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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, 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.
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P. Hutton M, et al. Among authors: van swieten j, van baren j. Nature. 1998 Jun 18;393(6686):702-5. doi: 10.1038/31508. Nature. 1998. PMID: 9641683
Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands.
Bertoli-Avella AM, Dekker MC, Aulchenko YS, Houwing-Duistermaat JJ, Simons E, Testers L, Pardo LM, Rademaker TA, Snijders PJ, van Swieten JC, Bonifati V, Heutink P, van Duijn CM, Oostra BA. Bertoli-Avella AM, et al. Among authors: van duijn cm, van swieten jc. Hum Genet. 2006 Mar;119(1-2):51-60. doi: 10.1007/s00439-005-0108-7. Epub 2005 Dec 14. Hum Genet. 2006. PMID: 16369765
Progranulin mutations in Dutch familial frontotemporal lobar degeneration.
Bronner IF, Rizzu P, Seelaar H, van Mil SE, Anar B, Azmani A, Donker Kaat L, Rosso S, Heutink P, van Swieten JC. Bronner IF, et al. Among authors: van swieten jc, van mil se. Eur J Hum Genet. 2007 Mar;15(3):369-74. doi: 10.1038/sj.ejhg.5201772. Epub 2007 Jan 17. Eur J Hum Genet. 2007. PMID: 17228326
TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations.
Seelaar H, Schelhaas HJ, Azmani A, Küsters B, Rosso S, Majoor-Krakauer D, de Rijk MC, Rizzu P, ten Brummelhuis M, van Doorn PA, Kamphorst W, Willemsen R, van Swieten JC. Seelaar H, et al. Among authors: van swieten jc, van doorn pa. Brain. 2007 May;130(Pt 5):1375-85. doi: 10.1093/brain/awm024. Epub 2007 Mar 14. Brain. 2007. PMID: 17360763 Free article.
Survival profiles of patients with frontotemporal dementia and motor neuron disease.
Hu WT, Seelaar H, Josephs KA, Knopman DS, Boeve BF, Sorenson EJ, McCluskey L, Elman L, Schelhaas HJ, Parisi JE, Kuesters B, Lee VM, Trojanowski JQ, Petersen RC, van Swieten JC, Grossman M. Hu WT, et al. Among authors: van swieten jc. Arch Neurol. 2009 Nov;66(11):1359-64. doi: 10.1001/archneurol.2009.253. Arch Neurol. 2009. PMID: 19901167 Free PMC article.
376 results