Parkinson's disease (PD) is a common neurodegenerative disorder characterized by
degeneration of the substantia nigra pars compacta and by accumulation of α-synuclein in …

Almost 2 decades after linking LRRK2 to Parkinson's disease, a vibrant research field has
developed around the study of this gene and its protein product. Recent studies have begun …

Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common genetic risk factors
for Parkinson's disease (PD). Increased LRRK2 kinase activity is thought to impair lysosomal …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the …

The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance
pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a …

Measures of selective constraint on genes have been used for many applications, including
clinical interpretation of rare coding variants, disease gene discovery and studies of genome …

The etiology of idiopathic Parkinson's disease (iPD) is multifactorial, and both genetics and
environmental exposures are risk factors. While mutations in leucine-rich repeat kinase-2 …

Human genetics research has discovered thousands of proteins associated with complex
and rare diseases. Genome-wide association studies (GWAS) and studies of Mendelian …

This comprehensive MDSGene review is devoted to 7 genes—TOR1A, THAP1, GNAL,
ANO3, PRKRA, KMT2B, and HPCA—mutations in which may cause isolated dystonia. It …

Genome-wide association studies have identified> 10,000 genetic variants associated with
various phenotypes and diseases. Although the majority are common variants, rare variants …