Associated Papers
Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease.
Malik M et al.
Npj Parkinson's Disease, 2026
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.
Hassanin E et al.
Npj Parkinson's Disease, 2025
Differences in age-related distribution of CSF alpha-synuclein seeding and Alzheimer profiles between PD with and without GBA1 variants.
Lerche S 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
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.
Yang J et al.
Npj Parkinson's Disease, 2025
A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.
Koros C et al.
Genes, 2024
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
Analysis of rare Parkinson's disease variants in millions of people.
Pitz V et al.
Npj Parkinson's Disease, 2024
Analysis of rare Parkinson's disease variants in millions of people.
Pitz V et al.
Research Square, 2023
Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.
Parlar SC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.
Peterschmitt MJ et al.
Journal of Parkinson's Disease, 2022
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance.
den Heijer JM et al.
Scientific Reports, 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
Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset.
Schierding W et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.
Graham OEE et al.
Parkinsonism & Related Disorders, 2020
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies.
Moors TE et al.
Molecular Neurobiology, 2019
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.
Crosiers D et al.
Neuroscience Letters, 2016
Gaucher disease paradigm: from ERAD to comorbidity.
Bendikov-Bar I et al.
Human Mutation, 2012
A mutation in SCARB2 is a modifier in Gaucher disease.
Velayati A et al.
Human Mutation, 2011
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
Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.
Pomponio RJ et al.
Molecular Genetics and Metabolism, 2005
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0