Associated Papers
Development of a Lentiviral Vector for High-Yield Production of Synthetic and Recombinant GCase for Gaucher Disease Therapy.
Coelho AC et al.
International Journal of Molecular Sciences, 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
40097465 (PubMed )
Supplement: 41531_2025_901_MOESM1_ESM.xlsx › Supplementary_Table_4
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
Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort.
Kamath SD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.
Choy FY et al.
Journal of Medical Genetics, 1997
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