Associated Papers
Multi-cohort, cross-species urinary proteomics reveals signatures of LRRK2 dysfunction in Parkinson's disease.
Vu DT et al.
Molecular Systems Biology, 2026
Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers.
Agin-Liebes J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care.
Ain NU et al.
Journal of Inherited Metabolic Disease, 2026
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Underlying Mechanisms of GBA1 in Parkinson's Disease and Dementia with Lewy Bodies: Narrative Review.
Bougea A
Genes, 2025
Investigating causal relations between brain morphology and genetic risk variants in Parkinson's disease.
Dagasso G et al.
Neuroimage. Clinical, 2025
WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.
Kafantari E et al.
Genes, 2025
TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations.
Sun W et al.
Npj Parkinson's Disease, 2025
Genetic Modifiers of Parkinson's Disease: A Case-Control Study.
Kmiecik MJ et al.
Annals of Clinical and Translational Neurology, 2025
The role of mitochondrial genetics in Parkinson's disease: Long-read sequencing as an emerging method.
Tran NLK et al.
Med (new York, N.y.), 2025
Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant.
Kamo H et al.
Movement Disorders Clinical Practice, 2025
Decreased SNCA expression in whole-blood RNA analysis of Parkinson's disease adjusting for neutrophils.
Xu KY et al.
Npj Parkinson's Disease, 2025
Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.
Akçimen F et al.
Brain : a Journal of Neurology, 2025
Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials.
Menozzi E et al.
Npj Parkinson's Disease, 2025
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease.
Gagliardi M et al.
Parkinsonism & Related Disorders, 2025
A Common PD-Risk GBA1 Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial Dysfunction.
Davis OB et al.
Biorxiv : the Preprint Server for Biology, 2025
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
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
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.
Anis S et al.
Parkinsonism & Related Disorders, 2025
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency in GBA1 isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonism.
Chen C et al.
Biorxiv : the Preprint Server for Biology, 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
Diverse Genomes, Shared Health: Insights from a Health System Biobank.
Haas R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Communications Biology, 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
Challenges in Gaucher disease: Perspectives from an expert panel.
Grabowski GA et al.
Molecular Genetics and Metabolism, 2025
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.
Cuconato G et al.
Parkinsonism & Related Disorders, 2025
Identification of Novel Mutations in Patients Affected by Gaucher Disease.
Anania M et al.
International Journal of Molecular Sciences, 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
Next Generation Sequencing Analysis in Patients Affected by Parkinson's Disease and Correlation Between Genotype and Phenotype in Selected Clinical Cases.
Pilotto A et al.
International Journal of Molecular Sciences, 2025
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2025
The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers.
Goldstein O et al.
Journal of Parkinson's Disease, 2025
Gaucher disease with severe congenital ichthyosiform erythroderma in two siblings.
Mendiratta V et al.
Indian Journal of Dermatology, Venereology and Leprology, 2025
Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.
Cotrin JC et al.
Neurogenetics, 2025
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.
Akçimen F et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.
Bonato G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025