Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants

Early-onset Alzheimer's disease (EOAD) accounts for 1%–2% of all Alzheimer's disease (AD) subjects, with large variation in the reported genetic contribution of known dementia genes. In this pilot study, we genetically characterized a German EOAD cohort (23 subjects) by whole-exome sequenc...

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Vydáno v:	Neurobiology of aging Ročník 37; s. 208.e11 - 208.e17
Hlavní autoři:	Blauwendraat, Cornelis, Wilke, Carlo, Jansen, Iris E., Schulte, Claudia, Simón-Sánchez, Javier, Metzger, Florian G., Bender, Benjamin, Gasser, Thomas, Maetzler, Walter, Rizzu, Patrizia, Heutink, Peter, Synofzik, Matthis
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States Elsevier Inc 01.01.2016
Témata:	Aged Alzheimer Disease - genetics Alzheimer's disease Cohort Studies Early-onset dementia Exome - genetics Exome sequencing Female Frontotemporal dementia Frontotemporal Dementia - genetics Genetic Association Studies Genetic Variation - genetics Germany Humans Internal Medicine Male Middle Aged Mutation Neurology Pilot Projects Presenilin-2 - genetics PSEN2 Sequence Analysis, DNA - methods Volga German N141I Germany PSEN2 Early-onset dementia Volga German N141I Frontotemporal dementia Alzheimer's disease Exome sequencing
ISSN:	0197-4580, 1558-1497
On-line přístup:	Získat plný text
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