Associated Papers
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.
Hassanin E et al.
Npj Parkinson's Disease, 2025
Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.
Rossi M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP et al.
Cell Reports, 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
GBA genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region.
Tonin R et al.
Clinical Parkinsonism & Related Disorders, 2025
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
Understanding monogenic Parkinson's disease at a global scale.
Junker J 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
Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.
Zhou Y et al.
Npj Parkinson's Disease, 2023
GBA1 Variants and Parkinson's Disease: Paving the Way for Targeted Therapy.
Huh YE et al.
Journal of Movement Disorders, 2023
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
Gabbert C et al.
Bmc Genomics, 2023
The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.
Munch TN et al.
Brain Communications, 2023
GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10-Year Population-Based Study.
Szwedo AA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression.
Ortega RA et al.
Jama Network Open, 2021
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease.
den Heijer JM et al.
Movement Disorders Clinical Practice, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
den Heijer JM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Serum lipid alterations in GBA-associated Parkinson's disease.
Guedes LC et al.
Parkinsonism & Related Disorders, 2017
Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients.
Parnetti L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Glucocerebrosidase mutations in primary parkinsonism.
Asselta R et al.
Parkinsonism & Related Disorders, 2014
First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.
Paciotti S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Association of glucocerebrosidase mutations with dementia with lewy bodies.
Clark LN et al.
Archives of Neurology, 2009