Associated Papers
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
Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish.
Mignani L et al.
International Journal of Molecular Sciences, 2023
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
34649574 (PubMed )
Supplement: 13023_2021_2034_MOESM1_ESM.pdf
A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease.
Barkhuizen M et al.
Molecular Genetics & Genomic Medicine, 2017
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.
Marcão A et al.
Human Mutation, 1999
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