Associated Papers
Identification of Novel Mutations in Patients Affected by Gaucher Disease.
Anania M et al.
International Journal of Molecular Sciences, 2025
The ovine Type II Gaucher disease model recapitulates aspects of human brain disease.
Winner LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023
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 heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
Fog CK et al.
Ebiomedicine, 2018
30497978 (PubMed )
Supplement: mmc1.docx
Glycosphingolipid analysis in a naturally occurring ovine model of acute neuronopathic Gaucher disease.
Karageorgos L et al.
Neurobiology of Disease, 2016
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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