Parkinson's disease

BR Bloem, MS Okun, C Klein - The Lancet, 2021 - thelancet.com
Parkinson's disease is a recognisable clinical syndrome with a range of causes and clinical
presentations. Parkinson's disease represents a fast-growing neurodegenerative condition; …

The genetic architecture of Parkinson's disease

C Blauwendraat, MA Nalls, AB Singleton - The Lancet Neurology, 2020 - thelancet.com
Parkinson's disease is a complex neurodegenerative disorder for which both rare and
common genetic variants contribute to disease risk, onset, and progression. Mutations in …

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 …

LRRK2 and idiopathic Parkinson's disease

EM Rocha, MT Keeney, R Di Maio… - Trends in …, 2022 - cell.com
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 …

[HTML][HTML] Monogenic Parkinson's disease: genotype, phenotype, pathophysiology, and genetic testing

F Jia, A Fellner, KR Kumar - Genes, 2022 - mdpi.com
Genes | Free Full-Text | Monogenic Parkinson’s Disease: Genotype, Phenotype,
Pathophysiology, and Genetic Testing Next Article in Journal enChIP-Seq Analyzer: A …

The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population

Y Zhao, L Qin, H Pan, Z Liu, L Jiang, Y He, Q Zeng… - Brain, 2020 - academic.oup.com
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 …

LRRK2 links genetic and sporadic Parkinson's disease

JH Kluss, A Mamais, MR Cookson - Biochemical Society …, 2019 - portlandpress.com
The past two decades in research has revealed the importance of leucine-rich repeat kinase
2 (LRRK2) in both monogenic and sporadic forms of Parkinson's disease (PD). In families …

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

C Blauwendraat, X Reed, L Krohn, K Heilbron… - Brain, 2020 - academic.oup.com
Parkinson's disease is a genetically complex disorder. Multiple genes have been shown to
contribute to the risk of Parkinson's disease, and currently 90 independent risk variants have …

The effect of LRRK2 loss-of-function variants in humans

N Whiffin, IM Armean, A Kleinman, JL Marshall… - Nature Medicine, 2020 - nature.com
Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF
variants) provide natural in vivo models of human gene inactivation and can be valuable …

Current status of microRNA-based therapeutic approaches in neurodegenerative disorders

S Paul, LA Bravo Vázquez, S Pérez Uribe… - Cells, 2020 - mdpi.com
MicroRNAs (miRNAs) are a key gene regulator and play essential roles in several biological
and pathological mechanisms in the human system. In recent years, plenty of miRNAs have …