Associated Papers
Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant.
Kamo H et al.
Movement Disorders Clinical Practice, 2025
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
The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.
Dos Santos JCC et al.
Molecular Neurobiology, 2024
Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years.
Panteghini C et al.
Parkinsonism & Related Disorders, 2023
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
Pachchek S et al.
Npj Parkinson's Disease, 2023
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
The Frequency of Korean Patients With Parkinson's Disease Carrying GBA Mutations in a Subgroup With Age at Onset ≤ 55 Years Old.
Hwangbo J et al.
Journal of Movement Disorders, 2023
Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations.
De Michele G et al.
Acta Neurologica Belgica, 2023
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease.
den Heijer JM et al.
Movement Disorders Clinical Practice, 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
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
Identification of sequence variants associated with severe microtia-astresia by targeted sequencing.
Wang P et al.
Bmc Medical Genomics, 2019
Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
Wolf P et al.
Molecular Genetics and Metabolism, 2018
Glucocerebrosidase mutations in a Serbian Parkinson's disease population.
Kumar KR et al.
European Journal of Neurology, 2013