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

Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene.

Parkinsonism & related disorders - 1 Oct 2018

Thaler Avner, Bregman Noa, Gurevich Tanya, Shiner Tamara, Dror Yonatan, Zmira Ofir, Gan-Or Ziv, Bar-Shira Anat, Gana-Weisz Mali, Orr-Urtreger Avi, Giladi Nir, Mirelman Anat

Abstract excerpt

OBJECTIVE: Mutations in the glucocerebrosidase (GBA) gene are divided into mild and severe (mGBA, sGBA) based on their contribution to the phenotype of Gaucher disease (GD) among homozygotes. We conducted a longitudinal analysis of Parkinson's disease (PD) patients carrying mutations in the GBA gene to better characterize genotype-phenotype correlations. METHODS: Patients underwent a comprehensive assessment of...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Gaucher Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Glucosylceramidase

Share to Leucine-Rich Repeat Serine-Threonine Protein Kinase-2

Share to Olfaction Disorders

Share to Parkinson Disease

Share to Severity of Illness Index

Source

Identifiers

PMID: 29784561
DOI: 10.1016/j.parkreldis.2018.05.009

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene.PMID 29784561Read ↗

Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential ModifiersSemantic proximity Read ↗

GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic ApproachesSemantic proximity Read ↗

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.Semantic proximity Read ↗

Prevalence and genotype-phenotype correlations of GBA-related Parkinson disease in a large Chinese cohort.Semantic proximity Read ↗

GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.Semantic proximity Read ↗

A benign course of Parkinson's disease associated with different mutations in the glucocerebrosidase gene - A case series.Semantic proximity Read ↗

Severe<i>GBA1</i>variants drive the GBA-PD clinical phenotype: implications for counselling and clinical trialsSemantic proximity Read ↗

[GBA mutations and Parkinson's disease].Semantic proximity Read ↗

The link between the GBA gene and parkinsonism.Semantic proximity Read ↗

[The clinical features of Parkinson's disease in patients with mutations and polymorphic variants of GBA gene].Semantic proximity Read ↗

The association between ß-glucocerebrosidase mutations and parkinsonism.Semantic proximity Read ↗

Differential effects of severe vs mild GBA mutations on Parkinson disease.Semantic proximity Read ↗

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