Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer’s Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

Background: The major genetic risk factor for late onset Alzheimer’s disease (AD) is the APOE-ɛ4 allele. However, APOE-ɛ4 homozygosity is not fully penetrant, suggesting co-occurrence of additional genetic variants. Objective: To identify genetic factors that, next to APOE-ɛ4 homozygosity, contribut...

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Pubblicato in:J Alzheimers Dis
Autori principali: Louwersheimer, Eva, Cohn-Hokke, Petra E., Pijnenburg, Yolande A.L., Weiss, Marjan M., Sistermans, Erik A., Rozemuller, Annemieke J., Hulsman, Marc, van Swieten, John C., van Duijn, Cock M., Barkhof, Frederik, Koene, Teddy, Scheltens, Philip, Van der Flier, Wiesje M., Holstege, Henne
Natura: Artigo
Lingua:Inglês
Pubblicazione: IOS Press 2017
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5240543/
https://ncbi.nlm.nih.gov/pubmed/27911290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JAD-160091
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