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Page 1
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: peeters k. Nature. 2006 Aug 24;442(7105):920-4. doi: 10.1038/nature05017. Epub 2006 Jul 16. Nature. 2006. PMID: 16862115
A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.
van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lübke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C, Dermaut B. van der Zee J, et al. Among authors: peeters k. Brain. 2006 Apr;129(Pt 4):841-52. doi: 10.1093/brain/awl029. Epub 2006 Feb 22. Brain. 2006. PMID: 16495329
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, De Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, De Deyn PP, Rousseau F, Brice A, Van Broeckhoven C. van der Zee J, et al. Among authors: peeters k. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9484. Hum Mutat. 2007. PMID: 17345602
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.
Brouwers N, Nuytemans K, van der Zee J, Gijselinck I, Engelborghs S, Theuns J, Kumar-Singh S, Pickut BA, Pals P, Dermaut B, Bogaerts V, De Pooter T, Serneels S, Van den Broeck M, Cuijt I, Mattheijssens M, Peeters K, Sciot R, Martin JJ, Cras P, Santens P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K. Brouwers N, et al. Among authors: peeters k. Arch Neurol. 2007 Oct;64(10):1436-46. doi: 10.1001/archneur.64.10.1436. Arch Neurol. 2007. PMID: 17923627
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C. van der Zee J, et al. Among authors: peeters k. Hum Mol Genet. 2008 Jan 15;17(2):313-22. doi: 10.1093/hmg/ddm309. Epub 2007 Oct 22. Hum Mol Genet. 2008. PMID: 17956895
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: peeters k. Ann Neurol. 2009 May;65(5):603-9. doi: 10.1002/ana.21621. Ann Neurol. 2009. PMID: 19288468
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.
Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Philtjens S, Heeman B, Engelborghs S, Vandenbulcke M, De Baets G, Bäumer V, Cuijt I, Van den Broeck M, Peeters K, Mattheijssens M, Rousseau F, Vandenberghe R, De Jonghe P, Cras P, De Deyn PP, Martin JJ, Cruts M, Van Broeckhoven C; BELNEU Consortium. Gijselinck I, et al. Among authors: peeters k. Neurology. 2015 Dec 15;85(24):2116-25. doi: 10.1212/WNL.0000000000002220. Epub 2015 Nov 18. Neurology. 2015. PMID: 26581300 Free PMC article.
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.
Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, Van Broeckhoven C, De Deyn PP. Dermaut B, et al. Among authors: peeters k. Ann Neurol. 2004 May;55(5):617-26. doi: 10.1002/ana.20083. Ann Neurol. 2004. PMID: 15122701
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: peeters k. Brain. 2007 Sep;130(Pt 9):2277-91. doi: 10.1093/brain/awm167. Epub 2007 Aug 6. Brain. 2007. PMID: 17681982
340 results