Associated Papers
APOE, Aβ42, and tau differentially impact cognitive decline in Sporadic, GBA1 and LRRK2 Parkinson's disease.
Botta R et al.
Npj Parkinson's Disease, 2026
GPNMB is a biomarker for lysosomal dysfunction and is secreted via LRRK2-modulated lysosomal exocytosis.
Bogacki EC et al.
Science Advances, 2025
Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher Disease.
Cheung C et al.
Molecular Genetics and Metabolism, 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
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Communications Biology, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 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
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 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
Are LRRK2 p.G2019S or GBA1 variants associated with long-term outcomes of deep brain stimulation for Parkinson's disease?
Anis S et al.
Parkinsonism & Related Disorders, 2024
Associations of cholinergic system integrity with cognitive decline in GBA1 and LRRK2 mutation carriers.
Schumacher J et al.
Npj Parkinson's Disease, 2024
Clinical prediction of GBA carrier status in Parkinson's disease.
Greenberg J et al.
Clinical Parkinsonism & Related Disorders, 2024
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Prediction of Parkinson's disease pathogenic variants using hybrid Machine learning systems and radiomic features.
Hajianfar G et al.
Physica Medica : Pm : an International Journal Devoted to the Applications of Physics to Medicine and Biology : Official Journal of the Italian Association of Biomedical Physics (aifb), 2023
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F et al.
Diagnostics (basel, Switzerland), 2023
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease.
Venkatachari M et al.
American Journal of Medical Genetics. Part A, 2023
GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance.
Granek Z et al.
International Journal of Molecular Sciences, 2023
The glucocerebrosidase mutations and uric acid levels in Parkinson's disease: A 3-years investigation of a potential biomarker".
Mozafar M et al.
Clinical Parkinsonism & Related Disorders, 2023
Levodopa-induced dyskinesia in early-onset Parkinson's disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand.
Thanprasertsuk S et al.
Plos One, 2023
Cognition as a mediator for gait and balance impairments in GBA-related Parkinson's disease.
Morris R et al.
Npj Parkinson's Disease, 2022
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Dinur T et al.
International Journal of Molecular Sciences, 2022
Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations.
Macías-García D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
An Exploratory Study Using Electronic Medical Records to Assess the Feasibility of Establishing Cohorts of Patients with Genetic Causes of Parkinson's Disease.
Lee SJ et al.
Journal of Parkinson's Disease, 2022
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
Kim YM et al.
Orphanet Journal of Rare Diseases, 2020
Altered level of plasma exosomes in patients with Gaucher disease.
Tatiana S et al.
European Journal of Medical Genetics, 2020
Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
Lepe-Balsalobre E et al.
Clinical Chemistry and Laboratory Medicine, 2020
Patient-specific pluripotent stem cell-based Parkinson's disease models showing endogenous alpha-synuclein aggregation.
Oh Y
Bmb Reports, 2019
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
Fog CK et al.
Ebiomedicine, 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
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
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
Rolfs A et al.
Plos One, 2013
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
den Hollander B et al.
Molecular Genetics and Metabolism, 0