Burden of variants in Parkinson’s disease-associated genes in GBA mutation carriers
Objective: The main objective of this study is to examine the burden of variants in genes that are known or suspected to be involved in…Male-specific exacerbation of susceptibility to α-synuclein pre-formed fibrils by developmental dieldrin exposure in mice
Objective: To determine whether developmental exposure to dieldrin exacerbates susceptibility to α-synuclein (α-syn) preformed fibril (PFF)-induced synucleinopathy in adulthood. Background: Parkinson’s disease (PD) is characterized…Early life stress offers a window into the relationship between depression and Parkinson’s disease: A 60-week study after maternal separation in rats
Objective: The aim of this study was to examine the relationship between depression and Parkinson's disease (PD) using the rat model of maternal separation (MS).…The Personalized Parkinson Project – data quality enhancing strategies
Objective: Demonstrate the impact of quality enhancing strategies in the Personalized Parkinson Project. Background: Increasingly, the scientific community uses data from longitudinal observational patient cohorts…A Human Factors Study of the DopaFuse® Delivery System
Objective: SynAgile has developed the DopaFuse Delivery System to noninvasively and continuously administer oral LD/CD into the mouths of patients with PD. The System is…Increasing chances of detecting a neuroprotective signal in PhI/II PD clinical trials?
Objective: Design an early CT program to detect a neuroprotective signal in PD. Background: Attempts to develop PD modifying therapies have been largely disappointing so…5 cases Static Encephalopathy of childhood with NeuroDegeneration in Adulthood (OMIM 300894) in children
Objective: 5 russian female patients aged 3 to 6 years with different mutations of the WDR45 gene were examined. Background: To study the clinical picture…Expanding the Phenotype of KCNA2 Mutation: Tics and Stereotypies
Objective: To report a case of KCNA2 mutation variant with tics. Background: Mutations in the KCNA2 gene impact the function of a voltage-gated potassium channel…Hyperkinetic Movement Disorders in Congenital Disorders of Glycosylation
Objective: The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by Congenital Disorders of Glycosylation (CDG) and to characterize…HGprt deficient brain RNA expression patterns reveal specific abnormalities related to neuronal function in a mouse model of Lesch-Nyhan disease.
Objective: To determine the effect of hypoxanthine guanine phosphoribosyl transferase (HGprt) deficiency on mouse brain RNA expression patterns in multiple brain areas, during embryonic development…
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