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Evaluation of the Clinical Features Accompanied by the Gene Mutations: The 2 Novel PSEN1 Variants in a Turkish Early-onset Alzheimer Disease Cohort.

Alzheimer disease and associated disorders - 1 Jan 2000

Eryilmaz Isil E, Bakar Mustafa, Egeli Unal, Cecener Gulsah, Yurdacan Beste, Colak Dilara K, Tunca Berrin

Abstract excerpt

INTRODUCTION: Early-onset Alzheimer disease (EOAD) is an earlier Alzheimer disease form which is characterized by the mutations in the amyloid precursor protein, presenilin-1/2 (PSEN1/2), and triggering receptor expressed on myeloid cells 2 (TREM2). However, it is still necessary to report mutational screening in multiethnic groups to improve the genetic background of EOAD due to the variant classification...

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PMID: 33769986
DOI: 10.1097/WAD.0000000000000437

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

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