Associated Papers
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease.
Spargo TP et al.
Cell Reports, 2025
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.
Yang J et al.
Npj Parkinson's Disease, 2025
Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.
Zhou Y et al.
Npj Parkinson's Disease, 2023
From Lysosomal Storage Disorders to Parkinson's Disease - Challenges and Opportunities.
Mächtel R et al.
Journal of Molecular Biology, 2023
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
The interplay between Glucocerebrosidase, α-synuclein and lipids in human models of Parkinson's disease.
Muñoz SS et al.
Biophysical Chemistry, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1.
Anderson HE et al.
American Journal of Medical Genetics. Part A, 2020
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.
McNeill A et al.
Brain : a Journal of Neurology, 2014
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
Novel pathogenic mutations in the glucocerebrosidase locus.
Duran R et al.
Molecular Genetics and Metabolism, 2012
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.
Giraldo P et al.
Orphanet Journal of Rare Diseases, 2012
The E326K mutation and Gaucher disease: mutation or polymorphism?
Park JK et al.
Clinical Genetics, 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
Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
Chabás A et al.
Blood Cells, Molecules & Diseases, 0
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0