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

Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease.

Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2021

Toffoli Marco, Higgins Abigail, Lee Chiao, Koletsi Sofia, Chen Xiao, Eberle Michael, Sedlazeck Fritz J, Mullin Stephen, Proukakis Christos, Schapira Anthony H V

Abstract excerpt

BACKGROUND: GBA mutations are a common risk factor for Parkinson's disease (PD). A recent study has suggested that GBA haplotypes, identified by intronic variants, can affect age at diagnosis of PD. OBJECTIVES: In this study, we assess this hypothesis using long reads across a large cohort and the publicly available Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) cohort. METHODS: We recruited a PD...

Read the complete abstract on PubMed

Topics

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

Share to Glucosylceramidase
Share to Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Mutation

Share to Parkinson Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 34008887
DOI: 10.1002/mds.28616
PMCID: PMC8436748

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

Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease.PMID 34008887Read ↗

Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.Semantic proximity Read ↗

Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.Semantic proximity Read ↗

The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers.Semantic proximity Read ↗

Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity.Semantic proximity Read ↗

GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes.Semantic proximity Read ↗

Accurate long-read sequencing identified GBA variants as a major genetic risk factor in the Luxembourg Parkinson’s studySemantic proximity Read ↗

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility.Semantic proximity Read ↗

Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.Semantic proximity Read ↗

Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset.Semantic proximity Read ↗

GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10-Year Population-Based Study.Semantic proximity Read ↗

Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts.Semantic proximity Read ↗

GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.Semantic proximity Read ↗

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