A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.

doi:10.1007/s00401-016-1566-9

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Article

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.

Acta neuropathologica - 1 Aug 2016

Verheijen Jan, Van den Bossche Tobi, van der Zee Julie, Engelborghs Sebastiaan, Sanchez-Valle Raquel, Lladó Albert, Graff Caroline, Thonberg Håkan, Pastor Pau, Ortega-Cubero Sara, Pastor Maria A, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Clarimon Jordi, Lleó Alberto, Fortea Juan, de Mendonça Alexandre, Martins Madalena, Grau-Rivera Oriol, Gelpi Ellen, Bettens Karolien, Mateiu Ligia, Dillen Lubina, Cras Patrick, De Deyn Peter P, Van Broeckhoven Christine, Sleegers Kristel

Abstract excerpt

The sortilin-related receptor 1 (SORL1) gene has been associated with increased risk for Alzheimer's disease (AD). Rare genetic variants in the SORL1 gene have also been implicated in autosomal dominant early-onset AD (EOAD). Here we report a large-scale investigation of the contribution of genetic variability in SORL1 to EOAD in a European EOAD cohort. We performed massive parallel amplicon-based re-sequencing...

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Identifiers

PMID: 27026413
DOI: 10.1007/s00401-016-1566-9
PMCID: PMC4947104

Genes

SORL1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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