Associated Papers
The Influence of Genetics in the Early Development of Axial Postural Abnormalities in Parkinson's Disease.
Vico IAD et al.
Movement Disorders Clinical Practice, 2026
Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution.
Kumar N et al.
Cureus, 2026
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
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
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
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 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
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Communications Biology, 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
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
Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up.
Nasce A et al.
Journal of Inherited Metabolic Disease, 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
Clinical features and infection risks of Chinese children with different types of Gaucher disease.
Gan C et al.
Frontiers in Pediatrics, 2025
Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease.
Zou J et al.
Frontiers in Immunology, 2025
Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.
Hong S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
GBA1-Associated Parkinson's Disease Is a Distinct Entity.
Skrahin A et al.
International Journal of Molecular Sciences, 2024
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
Elstein D et al.
Journal of Clinical Medicine, 2024
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E et al.
International Journal of Molecular Sciences, 2024
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.
Sako S et al.
Human Genome Variation, 2024
GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights.
Szlepák T et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Genetic and phenotypic characterization of Parkinson's disease at the clinic-wide level.
Tropea TF et al.
Npj Parkinson's Disease, 2024
NIH Toolbox performance of persons with Parkinson's disease according to GBA1 and STN-DBS status.
Almelegy A et al.
Annals of Clinical and Translational Neurology, 2024
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi K et al.
Molecular Genetics & Genomic Medicine, 2024
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.
Mohamed FE et al.
Frontiers in Pharmacology, 2024
Clinical prediction of GBA carrier status in Parkinson's disease.
Greenberg J et al.
Clinical Parkinsonism & Related Disorders, 2024
Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years.
Panteghini C et al.
Parkinsonism & Related Disorders, 2023
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
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.
Stanescu S et al.
Biomedicines, 2023
Changing clinical manifestations of Gaucher disease in Taiwan.
Lu WL et al.
Orphanet Journal of Rare Diseases, 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