Associated Papers
Association between plasma glucosylsphingosine levels and dyskinesia burden in GBA1-related Parkinson's disease.
Marano M et al.
Neurobiology of Disease, 2026
GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility.
Parlar SC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Genetics Influences Telomere Length in Parkinson's Disease: A Study in Monozygotic Discordant Twins.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Disease-modifying therapy in GBA1-related Parkinson's disease: the type of variant matters.
Colucci F et al.
Parkinsonism & Related Disorders, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Cryo-TEM structure of β-glucocerebrosidase in complex with its transporter LIMP-2.
Dobert JP et al.
Nature Communications, 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
Effects of glucocerebrosidase gene variations on the risk of Parkinson's disease dementia: a meta-analysis.
Li Q et al.
Frontiers in Aging Neuroscience, 2025
Investigating the Impact of the Parkinson's-Associated GBA1 E326K Mutation on β-Glucocerebrosidase Dimerization and Interactome Dynamics Through an In Silico Approach.
Pietrafesa D et al.
International Journal of Molecular Sciences, 2024
Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.
Zhang X et al.
Translational Neurodegeneration, 2024
The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.
Dos Santos JCC et al.
Molecular Neurobiology, 2024
Expanding the Spectrum of GBA1-Associated Neurodegenerative Diseases in an Italian Family.
Sorrentino C et al.
Movement Disorders Clinical Practice, 2024
Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.
Marano M et al.
Parkinsonism & Related Disorders, 2024
GBA1-Associated Parkinson's Disease Is a Distinct Entity.
Skrahin A et al.
International Journal of Molecular Sciences, 2024
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
Vernet Machado Bressan Wilke M et al.
International Journal of Molecular Sciences, 2024
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP et al.
Molecular Genetics and Metabolism Reports, 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
Reply to: "Differences in Sex-Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism".
Kresojević N et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
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
Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers.
Pal G et al.
Annals of Neurology, 2022
Altered ceramide metabolism is a feature in the extracellular vesicle-mediated spread of alpha-synuclein in Lewy body disorders.
Kurzawa-Akanbi M et al.
Acta Neuropathologica, 2021
Glucosylceramide in cerebrospinal fluid of patients with GBA-associated and idiopathic Parkinson's disease enrolled in PPMI.
Huh YE et al.
Npj Parkinson's Disease, 2021
Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease.
Liu G et al.
Nature Genetics, 2021
Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells.
Avenali M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance.
den Heijer JM et al.
Scientific Reports, 2021
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease.
den Heijer JM et al.
Movement Disorders Clinical Practice, 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
β-Glucocerebrosidase activity in GBA-linked Parkinson disease: The type of mutation matters.
Huh YE et al.
Neurology, 2020
Impact of GBA1 variants on long-term clinical progression and mortality in incident Parkinson's disease.
Stoker TB et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1.
d'Avila Paskulin L et al.
Molecular Genetics and Metabolism Reports, 2019
The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.
Velez-Pardo C et al.
Parkinsonism & Related Disorders, 2019
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
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.
Cilia R et al.
Annals of Neurology, 2016
Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.
Liu G et al.
Annals of Neurology, 2016
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling.
Zancan I et al.
Human Molecular Genetics, 2015
Glucocerebrosidase mutations in primary parkinsonism.
Asselta R et al.
Parkinsonism & Related Disorders, 2014
White matter abnormalities in Parkinson's disease patients with glucocerebrosidase gene mutations.
Agosta F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
Nalls MA et al.
Jama Neurology, 2013
Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
Kresojević N et al.
Parkinsonism & Related Disorders, 2013
Glucocerebrosidase mutations in a Serbian Parkinson's disease population.
Kumar KR et al.
European Journal of Neurology, 2013
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Duran R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.
Winder-Rhodes SE et al.
Brain : a Journal of Neurology, 2013