Novel PLA2G6 Mutation Presenting as Early-Onset Parkinson’s Disease
Objective: To report a case of a novel mutation in the PLA2G6 gene resulting in early-onset Parkinson’s Disease. Background: The phospholipase A2 group VI (PLA2G6)…Methylation status of SNCA gene in multiple system atrophy and Parkinson’s disease
Objective: Parkinson’s disease (PD) and multiple system atrophy (MSA) are classical synucleinopathies caused by misfolding of alpha-synuclein protein. Clinical picture of PD and MSA in…α-Synuclein in sympathetic nerve fibers distinguishes PRKN from LRRK2 and other genetic forms of Parkinson’s Disease
Objective: This cross-sectional observational study compared magnitudes of intra-neuronal deposition of α-synuclein in common and rare genetic forms of Parkinson’s disease. Background: Cytoplasmic inclusions of…Building a Global Parkinson’s Genetics Program (GP2): Clinical Cohorts Integration Working Group
Objective: To recruit Parkinson's Disease (PD) cohorts across the world for the global Parkinson's Genetics Program (GP2, http://gp2.org/), harmonise clinical data across cohorts for joint…SHBG, and possibly testosterone, are associated with the risk for Parkinson’s disease among women: a Mendelian randomization approach
Objective: To assess the association between Sex Hormone Binding Globulin (SHBG), Testosterone, and Estradiol with Parkinson's disease (PD). Background: Sex hormones may protect dopaminergic neurons,…Monogenic Hub of the Global Parkinson’s Genetics Program (GP2): The 500-genomes pilot project
Objective: To identify novel monogenic causes of Parkinson’s disease (PD). Background: The Global Parkinson’s Genetics Program (GP2, http://gp2.org/) is an international collaborative effort that aims…Utility of the long-read single-molecule nanopore sequencing for detection of repeat number and epigenetic modifications relevant for X-linked dystonia-parkinsonism
Objective: To investigate the utility of long-read single-molecule nanopore sequencing for simultaneous detection of repeat number and methylation of the SINE-VNTR-Alu (SVA) retrotransposon in the…The lack of association between UQCRC1 and Parkinson’s disease in a southwest Chinese population
Objective: To further investigate the association between ubiquinol-cytochrome c reductase core protein I (UQCRC1) and Parkinson’s disease (PD) among ethnic Chinese from southwest China. Background:…GBA variants in a multi-ethnic Parkinson’s disease (PD) cohort in Malaysia
Objective: To investigate the frequency of Glucocerebrosidase (GBA) gene variants in a multi-ethnic Parkinson’s disease (PD) cohort in Malaysia. Background: GBA variants have been associated…Monogenic Portal of the Global Parkinson’s Genetics Program (GP2)
Objective: To support the efforts of the Global Parkinson’s Genetics Program (GP2, http://gp2.org/) Monogenic Hub, by developing an easy-to-use online platform for case/family submission. Background:…
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