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
Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson's Disease.
Mattei D et al.
Research Square, 2026
Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case-control cohort study.
Mutlu U et al.
Orphanet Journal of Rare Diseases, 2026
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
Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.
Serrano-Gonzalo I et al.
International Journal of Molecular Sciences, 2025
Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson's Disease.
Mattei D et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt.
Youssef MAM et al.
Molecular and Cellular Pediatrics, 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
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 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
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
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
Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy.
Morado Arias M et al.
Diseases (basel, Switzerland), 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
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
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
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
Exposure factors and clinical characteristics associated with Parkinson's disease in GBA1 variant carriers: A Chinese GBA1-PD intrafamilial survey.
Zhang X et al.
Parkinsonism & Related Disorders, 2025
A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.
Koros C et al.
Genes, 2024
Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.
Vieira SRL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
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
GBA1-Associated Parkinson's Disease Is a Distinct Entity.
Skrahin A et al.
International Journal of Molecular Sciences, 2024
Genetic and phenotypic characterization of Parkinson's disease at the clinic-wide level.
Tropea TF et al.
Npj Parkinson's Disease, 2024
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
Understanding monogenic Parkinson's disease at a global scale.
Junker J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant.
Zhang Z et al.
The American Journal of Case Reports, 2024
Clinical prediction of GBA carrier status in Parkinson's disease.
Greenberg J et al.
Clinical Parkinsonism & Related Disorders, 2024
GBA1 variants in Brazilian Gaucher disease patients.
Basgalupp SP et al.
Molecular Genetics and Metabolism Reports, 2023
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
Use of Ambroxol as Therapy for Gaucher Disease.
Zhan X et al.
Jama Network Open, 2023