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
A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.
Costa R et al.
Human Molecular Genetics, 2020
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.
Leija-Salazar M et al.
Molecular Genetics & Genomic Medicine, 2019
Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease.
Nascimbeni F et al.
Molecular Genetics and Metabolism, 2018
UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease.
Braunstein H et al.
Blood Cells, Molecules & Diseases, 2018
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling.
Zancan I et al.
Human Molecular Genetics, 2015
Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients.
Ciana G et al.
Journal of Inherited Metabolic Disease, 2012
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts.
Aureli M et al.
Journal of Inherited Metabolic Disease, 2012
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1.
Concolino D et al.
Clinical Genetics, 2003
Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi.
Mariani G et al.
Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine, 2003
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Filocamo M et al.
Human Mutation, 2002
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Koprivica V et al.
American Journal of Human Genetics, 2000
Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
Romano M et al.
Blood Cells, Molecules & Diseases, 2000
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
Germain DP et al.
American Journal of Human Genetics, 1998
Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.
Theophilus B et al.
American Journal of Human Genetics, 1989