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Article

Pathological and clinical heterogeneity of presenilin 1 gene mutations.

Journal of Alzheimer's disease : JAD - 1 Oct 2004

Menéndez Manuel

Abstract excerpt

The presenilins are two closely related genes which implication in familial Alzheimer's disease (FAD) is well known. Presenilin 1 gene (PS1) mutations cause heterogeneous disorders and a bibliographical review of atypical PS1-FAD cases allows us to describe a great diversity of neuropathological and clinical variations and conclude that most of them do not strongly depend on the genetic location of the mutation...

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Identifiers

PMID: 15505368
DOI: 10.3233/jad-2004-6503

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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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