Associated Papers
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP et al.
Cell Reports, 2025
40056900 (PubMed )
Supplement: NIHMS2069108-supplement-5.xlsx › GBA1_variants
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
Gaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients.
Silva García R et al.
Archives of Medical Research, 2021
Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.
Du X et al.
Medicine, 2018
Functional analysis of 11 novel GBA alleles.
Malini E et al.
European Journal of Human Genetics : Ejhg, 2014
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