Huntington disease phenocopies or misdiagnosis: A black South African cohort
Objective: To investigate the occurrence of phenocopy mutations in a cohort of black South African individuals referred to the National Health Laboratory Service (NHLS) for…Strategies for a high quality data in an observational longitudinal study: Enroll-HD experience
Objective: To describe results of a combined risk-based monitoring (RBM) approach in the context of a large global observational longitudinal study, Enroll-HD. Background: Enroll-HD is…Indirect comparison of tolerability of deutetrabenazine and tetrabenazine in the FIRST-HD and TETRA-HD trials
Objective: To compare the tolerability of deutetrabenazine (DTB) and tetrabenazine (TBZ) as observed in the FIRST-HD (NCT01795859) and TETRA-HD (NCT00219804) trials for the treatment of…CSF inflammatory and cell death biomarkers in Huntington’s disease – An exploratory cross-sectional study
Objective: This exploratory work intended to study general inflammatory cytokines, microglial activation markers, and neuronal cell death markers in the cerebrospinal fluid (CSF) of HD…Epidemiology and economic burden of falls and fractures in patients with Huntington’s disease
Objective: To assess epidemiology and economic burden of falls and fractures among Huntington's disease (HD) patients. Background: The clinical course of HD is characterized by…Cortico-striatal functional connectivity in the premanifest and manifest period of Huntingtons disease measured with high-field functional magnetic resonance imaging
Objective: To assess functional connectivity in the premanifest and manifest period of Huntington's disease (HD) by using functional Magnetic Resonance Imaging (fMRI) at high-field (7…Persistent hemichorea and caudate atrophy in untreated diabetic striatopathy
Objective: To describe the natural history and imaging findings in a case of untreated diabetic striatopathy. Background: Diabetic striatopathy (DS) is a rare movement disorder…Evaluation of quality of life (QOL), patient- and clinician-reported outcomes with deutetrabenazine treatment of chorea in Huntington disease in first-HD
Objective: To assess if deutetrabenazine treatment of chorea associated with HD resulted in changes in QoL, Patient Global Impression of Change (PGIC), or Clinical Global…Program evaluation empowerment of people with Huntington’s disease (HD) and their families: Using goal attainment scaling (GAS)
Objective: The purposes of this study was evaluated the feasibility of psychosocial rehabilitation program designed to promotes automomy in people with HD and to describe…Chorea-acanthocytosis: The first described clinical case in Ukraine
Objective: The abstract provides a description of the clinical case of chorea-acanthocytosis diagnosed at the Department of Neurology No. 1 of the Kyiv Regional Clinical…
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