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
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.
Hassanin E et al.
Npj Parkinson's Disease, 2025
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Communications Biology, 2025
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
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
39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37986861 (PubMed )
Supplement: media-2.xlsx › Table_2
A synchronous therapy with daratumumab and enzymatic replacement therapy (ERT) in a patient with Gaucher disease and multiple myeloma.
Rago A et al.
Annals of Hematology, 2023
Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.
Peterschmitt MJ et al.
Journal of Parkinson's Disease, 2022
34897099 (PubMed )
Supplement: jpd-12-jpd212714-s001.pdf
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Filocamo M et al.
Human Mutation, 2002
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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