Associated Papers
Evaluation of Induced Pluripotent Stem Cell-Derived Dopaminergic Neurons from Siblings with Gaucher Disease Discordant for Parkinsonism.
Hertz E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Communications Biology, 2025
Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience.
Goker-Alpan O et al.
Frontiers in Pediatrics, 2025
Neurological symptoms in adults with Gaucher disease: a systematic review.
Imbalzano G et al.
Journal of Neurology, 2024
38771384 (PubMed )
Supplement: 415_2024_12439_MOESM3_ESM.docx
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
Elstein D et al.
Journal of Clinical Medicine, 2024
38930117 (PubMed )
Supplement: jcm-13-03588-s001.zip › jcm-2997111-supplementary.pdf
Comparative study of enriched dopaminergic neurons from siblings with Gaucher disease discordant for parkinsonism.
Hertz E et al.
Biorxiv : the Preprint Server for Biology, 2024
Is Gauchian genotyping of GBA1 variants reliable?
Tayebi N et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Macular Ganglion Cell Complex and Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Type-1 Gaucher Disease.
Weill Y et al.
International Journal of Molecular Sciences, 2020
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
Rolfs A et al.
Plos One, 2013
24278166 (PubMed )
Supplement: pone.0079732.s001.pdf
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
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
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