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
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR
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
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
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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