Using a Dopamine Genetic Risk Score to Predict Impulse Control Behaviours for Parkinson’s Disease Patients
Objective: The current study aimed to utilise a dopamine genetic risk score and objective laboratory-based behavioural measures of impulse control to identify Parkinson’s patients most…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…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…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:…Rare Neurodegenerative Phenotypes in Patients Carrying Homozygous GBA1 Mutations
Objective: To describe patients with Type 1 Gaucher disease who developed a rare neurodegenerative disease other than synucleinopathies. Background: Lysosomal dysfunction as a contributor to…Increased stroke risk in Parkinson’s disease patients with LRRK2 mutations
Objective: To determine whether genetic forms of Parkinson’s Disease (PD), such as LRRK2-mutated PD (LRRK2-PD) and GBA-mutated PD (GBA-PD), have a different vascular risk compared…Familial Parkinson’s disease (PD) with anticipation phenomenon. Undescribed variant in the LRRK2 gene (c.4001G> A (p.Arg1334Gln))
Objective: We describe a family with 4 members affected by PD, carrying a new variant of the LRRK2 gen, with anticipation phenomenon in succeding generation.…Glucocerebrosidase activity does not predict Parkinson’s Disease risk or severity
Objective: To explore the association between GCase activity, PD phenotype and probability for prodromal PD among PD and non-manifesting carriers (NMC) of mutations in the…
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