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Article

Phenotype associated with APP duplication in five families.

Brain : a journal of neurology - 1 Nov 2006

Cabrejo Lucie, Guyant-Maréchal Lucie, Laquerrière Annie, Vercelletto Martine, De la Fournière François, Thomas-Antérion Catherine, Verny Christophe, Letournel Franck, Pasquier Florence, Vital Anne, Checler Frédéric, Frebourg Thierry, Campion Dominique, Hannequin Didier

Abstract excerpt

Different duplications of the APP locus have been identified in five families with autosomal dominant early onset Alzheimer's disease (ADEOAD) and Abeta-related cerebral amyloid angiopathy (CAA). This study describes the phenotype of this new entity. Clinical, neuropsychological, imagery and neuropathological data were reviewed. The phenotype was not dependent on the size of the duplication and there was no...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16959815
DOI: 10.1093/brain/awl237

Genes

APP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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