Phenotypic Heterogeneity and Variability of Nigrostriatal Dopaminergic Function in a Dopa-Responsive Dystonia
Objective: To evaluate presynaptic nigrostriatal dopaminergic function in a Dopa-responsive dystonia (DRD) family with guanosine triphosphate cyclohydrolase 1 (GCH-1) mutation. Background: Mutation of GCH-1 located…Higher self-rated obsessive-compulsion in functional compared with organic dystonia
Objective: To evaluate obsessive-compulsive symptomatology in functional and organic dystonia Background: Case-control studies have reported elevated rates of obsessive-compulsion in genetic (DYT11 and DYT5) and…Zolpidem effect in task specific dystonia – clinical and neurophysiological study
Objective: We conducted a double blind, placebo-controlled crossover study to examine clinical and neurophysiological effect of zolpidem in patients with task specific dystonia. Background: Task…Movement and postural control in focal dystonia subjects measured using surface electromyography
Objective: To explore the difference in muscle activation during a postural versus movement control task in patients with focal dystonia. Background: Co-contraction of agonist and…Disease Modeling of Lesch-Nyhan Disease Using Induced Pluripotent Stem Cells
Objective: To create a resource of induced pluripotent stem cells (iPSCs) as models for exploring mechanisms of pathogenesis in Lesch-Nyhan disease (LND). Background: LND is…Prodromal features of Parkinson’s disease in women
Objective: To identify how prodromal features interact to determine Parkinson’s disease (PD) risk in women. Background: The neuronal loss that leads to PD progresses insidiously…Tendency towards being a “Morning person” increases risk of Parkinson’s disease: evidence from Mendelian randomisation
Objective: To explore the causal relationship between circadian rhythm and Parkinson's disease (PD), and coffee consumption and PD, using Mendelian randomisation (MR). Background: Circadian rhythm…Parallel evaluation of mutant huntingtin and neurofilament light in Huntington’s disease
Objective: To assess cerebrospinal fluid (CSF) mutant Huntingtin (mHTT), and CSF and plasma neurofilament light (NfL) in Huntington’s disease (HD). Background: HD is a progressive…Exploration of insight competence in Huntington’s disease supplemental to a cognitive debriefing study for the FuRST2.0 rating scale
Objective: Evaluate insight of functional impairment in premanifest and early-manifest Huntington’s disease (HD). Background: Following the guidelines of the US Food and Drug Administration Clinical…Changes in brain network activation (BNA) in patients with fragile x-associated tremor/ataxia syndrome (FXTAS)
Objective: We aimed to assess the ability of Brain Network Activation (BNA) EEG analysis to differentiate between patients with fragile X-associated tremor/ataxia syndrome (FXTAS), Parkinson’s…
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