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An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.

Neurogenetics - 1 Jan 2015

Quadri Marialuisa, Yang Xu, Cossu Giovanni, Olgiati Simone, Saddi Valeria M, Breedveld Guido J, Ouyang Limei, Hu Jingchu, Xu Na, Graafland Josja, Ricchi Valeria, Murgia Daniela, Guedes Leonor Correia, Mariani Claudio, Marti Maria J, Tarantino Patrizia, Asselta Rosanna, Valldeoriola Francesc, Gagliardi Monica, Pezzoli Gianni, Ezquerra Mario, Quattrone Aldo, Ferreira Joaquim, Annesi Grazia, Goldwurm Stefano, Tolosa Eduardo, Oostra Ben A, Melis Maurizio, Wang Jun, Bonifati Vincenzo

Abstract excerpt

Parkinson's disease (PD) is a common neurodegenerative disorder of complex aetiology. Rare, highly penetrant PD-causing mutations and common risk factors of small effect size have been identified in several genes/loci. However, these mutations and risk factors only explain a fraction of the disease burden, suggesting that additional, substantial genetic determinants remain to be found. Genetically isolated...

Topics

Case-Control Studies
DNA Mutational Analysis
Exome
Female
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Italy

Male

Mutation

Parkinson Disease

Polymorphism, Single Nucleotide

Risk Factors

Source

Identifiers

PMID: 25294124
DOI: 10.1007/s10048-014-0425-x

Genes

EZR
HYDIN
MMRN2
OGFOD1
SCAPER

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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