Associated Papers
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
Understanding monogenic Parkinson's disease at a global scale.
Junker J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.
Mohamed FE et al.
Frontiers in Pharmacology, 2024
Changing clinical manifestations of Gaucher disease in Taiwan.
Lu WL et al.
Orphanet Journal of Rare Diseases, 2023
Use of Ambroxol as Therapy for Gaucher Disease.
Zhan X et al.
Jama Network Open, 2023
Clinical Characteristics and GBA Gene Mutation Analysis of Gaucher Disease Type I.
Zhang X et al.
Clinical Laboratory, 2023
The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene.
Liu Q et al.
Frontiers in Pediatrics, 2023
[Clinical phenotype and genotype of Gaucher disease in 14 children].
Sun XY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022
Long-term eliglustat treatment of Gaucher patients over up to 10 years in Vienna.
Stulnig TM
Wiener Klinische Wochenschrift, 2022
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
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
Phetthong T et al.
Orphanet Journal of Rare Diseases, 2021
The clinical management of Type 2 Gaucher disease.
Weiss K et al.
Molecular Genetics and Metabolism, 2015
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
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