Associated Papers
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
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
'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.
Biegstraaten M et al.
Journal of Inherited Metabolic Disease, 2008
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
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
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
Select a paper to view details