Associated Papers
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
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Ankleshwaria C et al.
Journal of Human Genetics, 2014
Greater risk of parkinsonism associated with non-N370S GBA1 mutations.
Barrett MJ et al.
Journal of Inherited Metabolic Disease, 2013
Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions.
Baris HN et al.
Blood Cells, Molecules & Diseases, 2011
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
An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.
Atrian S et al.
Proteins, 2008
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
Montfort M et al.
Human Mutation, 2004
Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.
Cormand B et al.
American Journal of Medical Genetics, 1998
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.
Cormand B et al.
Prenatal Diagnosis, 1998
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
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.
Cormand B et al.
Human Mutation, 1996
Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.
Montfort M et al.
Blood Cells, Molecules & Diseases, 0
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