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
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
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Precision genomic profiling in Gaucher disease: insights from atypical presentations.
Saith A et al.
Frontiers in Genetics, 2025
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance.
den Heijer JM et al.
Scientific Reports, 2021
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
den Heijer JM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.
Crosiers D et al.
Neuroscience Letters, 2016
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Olgiati S et al.
Annals of Neurology, 2016
Phenotypic variability of prenatally presenting Gaucher's disease.
Beaujot J et al.
Prenatal Diagnosis, 2013
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
Nalls MA et al.
Jama Neurology, 2013
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
Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease.
de Fost M et al.
Atherosclerosis, 2009
Molecular pathology of NEU1 gene in sialidosis.
Seyrantepe V et al.
Human Mutation, 2003
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0