Associated Papers
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40672482 (PubMed )
Supplement: media-1.pdf
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 › brain-2023-02608-File010.pdf
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.
Sako S et al.
Human Genome Variation, 2024
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
Gabbert C et al.
Bmc Genomics, 2023
37312046 (PubMed )
Supplement: 12864_2023_9417_MOESM1_ESM.pdf
a-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy.
Moraitou M et al.
Plos One, 2023
36735655 (PubMed )
Supplement: pone.0277602.s001.docx
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Dimitriou E et al.
Molecular Genetics and Metabolism Reports, 2020
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.
Malekkou A et al.
Molecular Genetics & Genomic Medicine, 2020
Phenotypic Characteristics in GBA-Associated Parkinson's Disease: A Study in a Greek Population.
Simitsi A et al.
Journal of Parkinson's Disease, 2018
Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population.
Zhao F et al.
Neuroscience, 2016
Genetic convergence of Parkinson's disease and lysosomal storage disorders.
Deng H et al.
Molecular Neurobiology, 2015
β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.
Moraitou M et al.
Molecular Genetics and Metabolism, 0
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