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
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
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K et al.
Brain : a Journal of Neurology, 2023
36370000 (PubMed )
Supplement: awac413_supplementary_data.zip › brain-2022-00853-File010.xlsx › S4._all_rare_variants
Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases.
Favret JM et al.
Frontiers in Molecular Biosciences, 2020
Gaucher disease paradigm: from ERAD to comorbidity.
Bendikov-Bar I et al.
Human Mutation, 2012
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Molecular pathology of NEU1 gene in sialidosis.
Seyrantepe V et al.
Human Mutation, 2003
Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
Alfonso P et al.
Blood Cells, Molecules & Diseases, 0
Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.
Alfonso P et al.
Blood Cells, Molecules & Diseases, 0
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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