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
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
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
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
GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies.
Gómez G et al.
Journal of Genetics, 2017
Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.
Ortiz-Cabrera NV et al.
Molecular Genetics and Metabolism Reports, 2016
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
Cormand B et al.
Human Mutation, 1998
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.
Montfort M et al.
Blood Cells, Molecules & Diseases, 0
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