Associated Papers
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
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
Large-scale proteomics analysis of five brain regions from Parkinson's disease patients with a GBA1 mutation.
Blumenreich S et al.
Npj Parkinson's Disease, 2024
Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutation.
Blumenreich S et al.
Npj Parkinson's Disease, 2022
Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients.
Alcalay RN et al.
Annals of Clinical and Translational Neurology, 2020
32888397 (PubMed )
Supplement: ACN3-7-1816-s001.docx
Stabilization of Glucocerebrosidase by Active Site Occupancy.
Ben Bdira F et al.
Acs Chemical Biology, 2017
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Neumann J et al.
Brain : a Journal of Neurology, 2009
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