ABSTRACT A substantial proportion of risk for Parkinson's disease (PD) is driven by
genetics. Progress in understanding the genetic basis of PD has been significant. So far …

Less than a quarter century after the discovery of SNCA as the first attributable gene in
Parkinson's disease (PD), our knowledge of the genetic architecture underlying this disease …

This study aimed to determine the mutational spectrum of familial Parkinson's disease and
sporadic early-onset Parkinson's disease (sEOPD) in a mainland Chinese population and …

This review article aims to provide a comprehensive overview on Parkinson's disease
genetics. MAPT, which encodes the microtubule associated protein tau, TMEM230, LRP10 …

Defects in nucleocytoplasmic transport have been associated with several
neurodegenerative disorders and, in particular, the formation of pathological protein …

Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically
heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved …

Advances in genome sequencing have enabled researchers and clinicians to probe vast
numbers of human variants to distinguish pathogenic from benign variants. Model …

De novo mutations (DNMs) significantly contribute to sporadic diseases, particularly in
neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome …

GBA1 variants are important risk factors for Parkinson's disease (PD). Most studies
assessing GBA1-related PD risk have been performed in European-derived populations …

Background There is a lack of large multicenter Parkinson's disease (PD) cohort studies and
limited data on the natural history of PD in China. Objectives The objective of this study was …