Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability
Objective: To investigate the genetic defect in patients with early-onset dystonia and myoclonus accompanying various neurological features. Background: Unlike other Mendelian disorders, dystonia genetics has…The Long-Term Safety of Deutetrabenazine for Chorea in Huntington Disease
Objective: To evaluate the safety and tolerability of deutetrabenazine in Huntington Disease (HD) over long term exposure. Background: In a randomized, double-blind, controlled trial (First-HD),…Effect of Pridopidine on Total Functional Capacity (TFC) in Huntington Disease (HD): Results of a Cohort Comparison of Open-HART and Historical Placebo Subjects
Objective: To measure functional decline by TFC change in HD patients treated with open-label pridopidine at 45 mg BID (Open-HART) for 36 months (mos), and…Myoclonus in adult onset Huntington’s disease
Objective: We present a case report of adult onset Huntington's disease (HD) with myoclonus as the main clinical feature. Background: Myoclonus is seldom reported as…Does cerebellar dysfunction contribute to tremor in Parkinson’s disease?
Objective: This study aims to investigate the potential role of cerebellar dysfunction in the pathogenesis of tremor in Parkinson’s disease (PD). Background: Rest tremor in…Alpha-synuclein enhances histone H3 lysine-9 dimethylation
Objective: To explore the nuclear function of alpha-synuclein (αS). Background: αS is a protein linked to Parkinson’s disease (PD) and related neurodegenerative disorders. It is…Citrus extract A protects dopaminergic neuron by modulating mitochondrial respiration and reactive oxygen species
Objective: This study aims to validate the protective effect of citrus extract A (CEA) against loss of dopamine neurons in PD by dual targeting of…Dynamic stability during turning in people with Parkinson’s disease
Objective: The goal of this study is to determine the contributions of dyskinesia to abnormal turning mechanisms. Background: The ability to turn safely while…Antibody binding differences in alpha-synuclein from Parkinson’s disease and multiple system atrophy
Objective: Determine whether alpha-synuclein derived from Parkinson's disease (PD) and multiple system atrophy (MSA) brains has different conformations as defined by biochemical and antibody-based approaches. Background: There…Optimization of Synucleinopathy and Nigrostriatal Degeneration Induced by Injection of Alpha-Synuclein Preformed Fibrils into Rat Striatum
Objective: Optimization of the surgical parameters (intrastriatal placement and concentration of alpha-synuclein preformed fibrils; α-syn PFFs) to increase the magnitude of nigrostriatal α-syn pathology and…
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