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
Protective Effect of the LRRK2 Kinase Inhibition in Human Fibroblasts Bearing the Genetic Variant GBA1 K198E: Implications for Parkinson's Disease.
Perez-Abshana LP et al.
Neuromolecular Medicine, 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
Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.
Rossi M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.
Koros C et al.
Genes, 2024
Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic.
Lim SY et al.
The Lancet. Neurology, 2024
The GBA1 K198E Variant Is Associated with Suppression of Glucocerebrosidase Activity, Autophagy Impairment, Oxidative Stress, Mitochondrial Damage, and Apoptosis in Skin Fibroblasts.
Perez-Abshana LP et al.
International Journal of Molecular Sciences, 2024
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
Elstein D et al.
Journal of Clinical Medicine, 2024
38930117 (PubMed )
Supplement: jcm-13-03588-s001.zip › jcm-2997111-supplementary.pdf
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
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
The clinical management of Type 2 Gaucher disease.
Weiss K et al.
Molecular Genetics and Metabolism, 2015
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.
Pomponio RJ et al.
Molecular Genetics and Metabolism, 2005
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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