Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family.

Cruts M, Dermaut B, Rademakers R, Van den Broeck M, Stögbauer F, Van Broeckhoven C.

J Neurol. 2003 Nov;250(11):1374-5. doi: 10.1007/s00415-003-0182-5.

PMID: 14648157

Early cognitive decline is associated with prion protein codon 129 polymorphism.

Croes EA, Dermaut B, Houwing-Duistermaat JJ, Van den Broeck M, Cruts M, Breteler MM, Hofman A, van Broeckhoven C, van Duijn CM.

Ann Neurol. 2003 Aug;54(2):275-6. doi: 10.1002/ana.10658.

PMID: 12891686

 
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.

Van Goethem G, Löfgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven C.

Hum Mutat. 2003 Aug;22(2):175-6. doi: 10.1002/humu.10246.

PMID: 12872260 

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J.

Eur J Hum Genet. 2003 Jul;11(7):547-9. doi: 10.1038/sj.ejhg.5201002.

PMID: 12825077 

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.

Ann Neurol. 2003 Mar;53(3):409-12. doi: 10.1002/ana.10507.

PMID: 12601712

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.

Am J Hum Genet. 2002 Jun;70(6):1568-74. doi: 10.1086/340732. Epub 2002 Apr 24.

PMID: 11992262