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High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.

Archive ouverte | Pottier, Corinne | CCSD

International audience. Performing exome sequencing in 14 autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes (amyloid precursor protein (APP), presenilin1 (PSEN1) a...

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

Archive ouverte | Le Guennec, K. | CCSD

International audience. To assess the role of rare copy number variations in Alzheimer's disease (AD), we conducted a case-control study using whole-exome sequencing data from 522 early-onset cases and 584 controls....

Intrafamilial diversity of phenotype associated with app duplication.

Archive ouverte | Guyant-Marechal, I. | CCSD

International audience

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