Associated Papers
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Communications Biology, 2025
Animal Models for the Study of Gaucher Disease.
Cabasso O et al.
International Journal of Molecular Sciences, 2023
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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
Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review.
Revel-Vilk S et al.
International Journal of Molecular Sciences, 2020
A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep.
Zhou H et al.
Animal Genetics, 2017
Glycosphingolipid analysis in a naturally occurring ovine model of acute neuronopathic Gaucher disease.
Karageorgos L et al.
Neurobiology of Disease, 2016
Genetic testing for phenotype-causing variants in sheep and goats.
Lühken G
Molecular and Cellular Probes, 2012
Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.
Valenzano KJ et al.
Assay and Drug Development Technologies, 2011
Gaucher disease in sheep.
Karageorgos L et al.
Journal of Inherited Metabolic Disease, 2011
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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