Skip to main content

3 Result(s)

within C Charbonnier Remove this filter Medicine & Public Health Remove this filter Biological Psychology Remove this filter

and

  1. No Access

    Article

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

    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. The most recurren...

    K Le Guennec, O Quenez, G Nicolas, D Wallon, S Rousseau… in Molecular Psychiatry (2017)

  2. No Access

    Article

    SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease

    The SORL1 protein plays a protective role against the secretion of the amyloid β peptide, a key event in the pathogeny of Alzheimer’s disease. We assessed the impact of SORL1 rare variants in early-onset Alzheime...

    G Nicolas, C Charbonnier, D Wallon, O Quenez, C Bellenguez… in Molecular Psychiatry (2016)

  3. No Access

    Article

    De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

    We hypothesized that de novo variants (DNV) might participate in the genetic determinism of sporadic early-onset Alzheimer disease (EOAD, onset before 65 years). We investigated 14 sporadic EOAD trios first by ar...

    A Rovelet-Lecrux, C Charbonnier, D Wallon, G Nicolas, M N J Seaman… in Molecular Psychiatry (2015)