Associated Papers
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.
Yang J et al.
Npj Parkinson's Disease, 2025
Distinctive cognitive phenotypes in Parkinson's disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study.
Longo C et al.
Clinical Parkinsonism & Related Disorders, 2025
Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.
Vieira SRL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
Pachchek S et al.
Npj Parkinson's Disease, 2023
Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.
Rizig M et al.
The Lancet. Neurology, 2023
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
Gabbert C et al.
Bmc Genomics, 2023
Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson's Disease in African and African Admixed Populations.
Rizig M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Screening of GBA Mutations in Nigerian Patients with Parkinson's Disease.
Milanowski LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α-Synuclein in PDGBA.
Lerche S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.
Limgala RP et al.
Jimd Reports, 2021
Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression.
Ortega RA et al.
Jama Network Open, 2021
Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients.
Alcalay RN et al.
Annals of Clinical and Translational Neurology, 2020
Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease.
Mahungu AC et al.
Neurobiology of Aging, 2020
Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.
Blauwendraat C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
Wolf P et al.
Molecular Genetics and Metabolism, 2018
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.
Guerreiro R et al.
The Lancet. Neurology, 2018
Serum lipid alterations in GBA-associated Parkinson's disease.
Guedes LC et al.
Parkinsonism & Related Disorders, 2017
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3.
Siebert M et al.
Parkinsonism & Related Disorders, 2012
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Lesage S et al.
Human Molecular Genetics, 2011
Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa.
Nishioka K et al.
Neuroscience Letters, 2010
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Detection of 12 new mutations in Gaucher disease Brazilian patients.
Rozenberg R et al.
Blood Cells, Molecules & Diseases, 0