The genetics of Parkinson's disease and implications for clinical practice

JO Day, S Mullin - Genes, 2021 - mdpi.com
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 …

Parkinson's disease: from pathogenesis to pharmacogenomics

R Cacabelos - International journal of molecular sciences, 2017 - mdpi.com
Parkinson's disease (PD) is the second most important age-related neurodegenerative
disorder in developed societies, after Alzheimer's disease, with a prevalence ranging from …

Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases

MR Corces, A Shcherbina, S Kundu, MJ Gloudemans… - Nature …, 2020 - nature.com
Genome-wide association studies of neurological diseases have identified thousands of
variants associated with disease phenotypes. However, most of these variants do not alter …

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

MA Nalls, C Blauwendraat, CL Vallerga… - The Lancet …, 2019 - thelancet.com
Background Genome-wide association studies (GWAS) in Parkinson's disease have
increased the scope of biological knowledge about the disease over the past decade. We …

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

D Chang, MA Nalls, IB Hallgrímsdóttir, J Hunkapiller… - Nature …, 2017 - nature.com
Common variant genome-wide association studies (GWASs) have, to date, identified> 24
risk loci for Parkinson's disease (PD). To discover additional loci, we carried out a GWAS …

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

G Davies, M Lam, SE Harris, JW Trampush… - Nature …, 2018 - nature.com
General cognitive function is a prominent and relatively stable human trait that is associated
with many important life outcomes. We combine cognitive and genetic data from the …

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden… - Brain, 2017 - academic.oup.com
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also
potent risk factors for Parkinson's disease. We examined whether a genetic burden of …

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

MA Nalls, N Pankratz, CM Lill, CB Do, DG Hernandez… - Nature …, 2014 - nature.com
We conducted a meta-analysis of Parkinson's disease genome-wide association studies
using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty …

Neuropathological and genetic correlates of survival and dementia onset in synucleinopathies: a retrospective analysis

DJ Irwin, M Grossman, D Weintraub, HI Hurtig… - The Lancet …, 2017 - thelancet.com
Background Great heterogeneity exists in survival and the interval between onset of motor
symptoms and dementia symptoms across synucleinopathies. We aimed to identify genetic …

Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression

F Soldner, Y Stelzer, CS Shivalila, BJ Abraham… - Nature, 2016 - nature.com
Genome-wide association studies (GWAS) have identified numerous genetic variants
associated with complex diseases, but mechanistic insights are impeded by a lack of …