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

Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years.

Parkinsonism & related disorders - 1 Dec 2023

Panteghini Celeste, Reale Chiara, Colangelo Isabel, Suerz Marta, Catania Alessia, Garavaglia Barbara, Invernizzi Federica

Abstract excerpt

INTRODUCTION: Heterozygous GBA1 variants are among the most frequent genetic risk factors for Parkinson's disease (PD). Male sex is a risk factor in the development of PD but the sex prevalence of GBA1 carriers in PD patients remains debatable. Molecular analysis of the GBA1 gene is complicated by the presence of a highly homologous pseudogene GBAP1. METHOD: Starting from 2006, we screened GBA1 gene in a large...

Read the complete abstract on PubMed

Topics

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

Share to Glucosylceramidase
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Parkinson Disease

Share to Sex Factors

Source

Identifiers

PMID: 37948831
DOI: 10.1016/j.parkreldis.2023.105919

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years.PMID 37948831Read ↗

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

Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson’s studySemantic proximity Read ↗

Classification of <i>GBA1</i> variants in Parkinson’s disease; the <i>GBA1</i>-PD browserSemantic proximity Read ↗

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

Beyond Parkinson’s disease: expanding the neurodegenerative spectrum of GBA1- associated disordersSemantic proximity Read ↗

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

A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.Semantic proximity Read ↗

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

A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.Semantic proximity Read ↗

Association between heterozygous GBA1 L444P carrier status and risk of Parkinson's disease: A systematic review and meta-analysis.Semantic proximity Read ↗

GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring mattersSemantic proximity Read ↗

Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.Semantic proximity Read ↗

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