Associated Papers
Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients.
Miryounesi M et al.
Neurogenetics, 2025
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
250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlation.
Donald A et al.
Molecular Genetics and Metabolism, 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
A multicenter study of genetic testing for Parkinson's disease in the clinical setting.
Kovanda A et al.
Npj Parkinson's Disease, 2022
Parkinson's disease in a patient with multiple sclerosis and heterozygous glucocerebrosidase gene mutation.
Delalić S et al.
Clinical Parkinsonism & Related Disorders, 2020
Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.
Torralba MA et al.
Qjm : Monthly Journal of the Association of Physicians, 2016
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
Montfort M et al.
Human Mutation, 2004
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
Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
Torralba MA 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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