Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.

Journal of molecular neuroscience : MN - 1 Oct 2017

Ben-Shachar Shay, Afawi Zaid, Masalha Rafik, Badarny Samih, Neiman Tova, Pavzner Dina, Bar-Shira Anat, Orr-Urtreger Avi

Abstract excerpt

Early-onset Parkinson's disease (EOPD) is less common than the typical adult-onset PD and may be associated with a genetic etiology. Mutations in several genes are known to cause autosomal recessive (AR) PD. This study aimed to detect the etiology of EOPD in consanguineous families or families living in a specific small geographic region in Israel. Six families with EOPD affecting more than a single individual...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Homozygote

Share to Mutation

Share to Parkinson Disease

Share to Pedigree

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 28913705
DOI: 10.1007/s12031-017-0972-3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.PMID 28913705Read ↗

Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.Semantic proximity Read ↗

Whole-Exome Sequencing Study of Consanguineous Parkinson's Disease Families and Related Phenotypes: Report of Twelve Novel Variants.Semantic proximity Read ↗

Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China.Semantic proximity Read ↗

Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease.Semantic proximity Read ↗

Whole-exome sequencing in early-onset Parkinson's disease among ethnic Chinese.Semantic proximity Read ↗

Parkin is the most common causative gene in a cohort of mainland Chinese patients with sporadic early-onset Parkinson's disease.Semantic proximity Read ↗

Novel parkin mutations detected in patients with early-onset Parkinson's disease.Semantic proximity Read ↗

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.Semantic proximity Read ↗

PARK2 mutations and clinical features in a Chinese population with early-onset Parkinson's disease.Semantic proximity Read ↗

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.Semantic proximity Read ↗

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.Semantic proximity Read ↗

Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.