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Article

Clinical and genetic findings in Parkinson's disease in a Turkish cohort: a retrospective exome sequencing study.

Neurogenetics - 19 Sept 2026

Canbek Sezin, Gulseven M Fatih, Mert Goncagul, Senol M Guney

Abstract excerpt

Parkinson's disease (PD) is a progressive neurodegenerative disorder primarily affecting dopaminergic neurons in the mesencephalon. With rising global incidence, especially in individuals over 60, PD presents with motor and non-motor symptoms. While monogenic forms account for a subset of cases, genetic heterogeneity and variable expressivity complicate diagnosis and management. This study aimed to evaluate the...

Read the complete abstract on PubMed

Topics

Humans
Parkinson Disease
Male
Turkey
Female
Exome Sequencing
Retrospective Studies

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

Middle Aged

Aged

DNA Copy Number Variations

Genetic Association Studies

High-Throughput Nucleotide Sequencing

Mutation

Leucine-Rich Repeat Serine-Threonine Protein Kinase-2

Phenotype

Exome

Glucosylceramidase

Genetic Predisposition to Disease

Source

Identifiers

PMID: 42762359
DOI: 10.1007/s10048-026-00943-x

Genes

EIF4G1
FBXO7
GBA1
GIGYF2
PARK7
PINK1
PRKN
UCHL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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