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
Neurological symptoms in adults with Gaucher disease: a systematic review.
Imbalzano G et al.
Journal of Neurology, 2024
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
Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.
Hassan S et al.
Molecular Genetics and Metabolism, 2018
Greater risk of parkinsonism associated with non-N370S GBA1 mutations.
Barrett MJ et al.
Journal of Inherited Metabolic Disease, 2013
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.
Giraldo P et al.
Orphanet Journal of Rare Diseases, 2012
Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?
Giraldo P et al.
Journal of Inherited Metabolic Disease, 2011
Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.
Alfonso P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.
Alfonso P et al.
Journal of Human Genetics, 2007
Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
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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