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Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression.
Theuns J, Del-Favero J, Dermaut B, van Duijn CM, Backhovens H, Van den Broeck MV, Serneels S, Corsmit E, Van Broeckhoven CV, Cruts M. Theuns J, et al. Among authors: van duijn cm, van broeckhoven cv, van den broeck mv. Hum Mol Genet. 2000 Feb 12;9(3):325-31. doi: 10.1093/hmg/9.3.325. Hum Mol Genet. 2000. PMID: 10655540 Free article.
The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.
Dermaut B, Theuns J, Sleegers K, Hasegawa H, Van den Broeck M, Vennekens K, Corsmit E, St George-Hyslop P, Cruts M, van Duijn CM, Van Broeckhoven C. Dermaut B, et al. Among authors: van duijn cm, van den broeck m, van broeckhoven c. Am J Hum Genet. 2002 Jun;70(6):1568-74. doi: 10.1086/340732. Epub 2002 Apr 24. Am J Hum Genet. 2002. PMID: 11992262 Free PMC article.
PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease.
Dermaut B, Croes EA, Rademakers R, Van den Broeck M, Cruts M, Hofman A, van Duijn CM, Van Broeckhoven C. Dermaut B, et al. Among authors: van duijn cm, van den broeck m, van broeckhoven c. Ann Neurol. 2003 Mar;53(3):409-12. doi: 10.1002/ana.10507. Ann Neurol. 2003. PMID: 12601712
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
Claes L, Ceulemans B, Audenaert D, Smets K, Löfgren A, Del-Favero J, Ala-Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P. Claes L, et al. Among authors: van broeckhoven c. Hum Mutat. 2003 Jun;21(6):615-21. doi: 10.1002/humu.10217. Hum Mutat. 2003. PMID: 12754708
Genetics of early-onset Alzheimer dementia.
Rademakers R, Cruts M, Van Broeckhoven C. Rademakers R, et al. Among authors: van broeckhoven c. ScientificWorldJournal. 2003 Jun 16;3:497-519. doi: 10.1100/tsw.2003.39. ScientificWorldJournal. 2003. PMID: 12847300 Free PMC article. Review.
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: van den broeck m, van broeckhoven c. Ann Neurol. 2004 May;55(5):617-26. doi: 10.1002/ana.20083. Ann Neurol. 2004. PMID: 15122701
Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample.
Rademakers R, Cruts M, Sleegers K, Dermaut B, Theuns J, Aulchenko Y, Weckx S, De Pooter T, Van den Broeck M, Corsmit E, De Rijk P, Del-Favero J, van Swieten J, van Duijn CM, Van Broeckhoven C. Rademakers R, et al. Among authors: van swieten j, van duijn cm, van den broeck m, van broeckhoven c. Am J Hum Genet. 2005 Oct;77(4):643-52. doi: 10.1086/491749. Epub 2005 Aug 30. Am J Hum Genet. 2005. PMID: 16175510 Free PMC article.
779 results