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
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.
Hassanin E et al.
Npj Parkinson's Disease, 2025
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.
Yang J et al.
Npj Parkinson's Disease, 2025
Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.
Towns C et al.
Npj Parkinson's Disease, 2024
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
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F et al.
Diagnostics (basel, Switzerland), 2023
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Dinur T et al.
International Journal of Molecular Sciences, 2022
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
Siebert M et al.
Jimd Reports, 2013
Gaucher disease paradigm: from ERAD to comorbidity.
Bendikov-Bar I et al.
Human Mutation, 2012
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Setó-Salvia N et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
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
Detection of 12 new mutations in Gaucher disease Brazilian patients.
Rozenberg R et al.
Blood Cells, Molecules & Diseases, 0