Associated Papers
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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP et al.
Cell Reports, 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
Clinical features and infection risks of Chinese children with different types of Gaucher disease.
Gan C et al.
Frontiers in Pediatrics, 2025
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
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
Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.
Jezela-Stanek A et al.
Journal of Clinical Medicine, 2021
Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression.
Ortega RA et al.
Jama Network Open, 2021
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
Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease.
Atashrazm F et al.
Scientific Reports, 2018
The clinical management of Type 2 Gaucher disease.
Weiss K et al.
Molecular Genetics and Metabolism, 2015
Perinatal-lethal Gaucher disease presenting as hydrops fetalis.
BenHamida E et al.
The Pan African Medical Journal, 2015
Functional analysis of 11 novel GBA alleles.
Malini E et al.
European Journal of Human Genetics : Ejhg, 2014
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0