Ataxia Telangiectasia Diagnosis in Lower-Middle-Income Countries: A Case Report
Objective: to describe clinical features and diagnostic tests in a patient with Ataxia Telangiectasia (AT) in Vietnam. Background: AT is a rare hereditary syndrome, the…Evaluating Pharmacological Interventions for Friedreich Ataxia: A Network Meta-Analysis of Randomised Trials
Objective: To compare the clinical efficacy of different pharmacological agents in reduction of disease severity of Friedreich Ataxia. Background: Friedreich ataxia is a rare, inherited,…Volatile solvent abuse and Cerebellar ataxia: A case series
Objective: Delineation of clinical and radiological features of cerebellar ataxia from volatile solvent abuse. Background: Volatile solvents like glues, correction fluid, acrylic paints, varnishes, lacquers…Challenges of Huntington’s disease and chorea in Guinea: the benefits of genetic testing in tropical environments
Objective: The aim of this study was to identify the genetic underlier of individuals presenting with chorea, allowing for the diagnosis of these patients, and…Rapid Onset Kinematic Effects of Thalamic/Subthalamic DBS in Cervical Dystonia
Objective: To assess the acute effect of combined ventrolateral thalamus (VL-Th) and subthalamic nucleus (STN) stimulation in Cervical Dystonia (CD) on clinical and kinematic measurements…Treatment of Craniofacial Dystonias with Methylphenidate: A Case Series.
Objective: To determine benefit from using methylphenidate for patients with uncontrolled blepharospasm and/or oromandibular dystonia. Background: The preferred treatment for blepharospasm and related craniofacial dystonias…Genetic Variant in the VPS16 Gene in a 44-year-old Patient with Generalized Dystonia
Objective: To report a case of generalized dystonia with a genetic variant in VPS16 gene, possibly related to AD dystonia 30. Background: Dystonia is characterized…Exploring the non-invasive epigenetic screening test for hereditary dystonia DYT-KMT2B
Objective: To explore the altered H3K4me3 levels in non-neural tissue of DYT-KMT2B patients. Background: DYT-KMT2B, also known as DYT28, is a childhood-onset hereditary dystonia caused…Somnolence-Related Events Over Time with Valbenazine Treatment for Chorea Associated with Huntington’s Disease
Objective: To present somnolence-related events over time from 2 studies of once-daily valbenazine, which is approved for chorea in adults with Huntington’s disease: KINECT®-HD (K-HD,…Longitudinal Relationship Between Brain Metabolism and Clinical Changes in Huntington’s Disease
Objective: To understand the relationship between progression of the clinical symptoms and patterns of brain hypometabolism progression in a large cohort of Huntington’s disease (HD)…
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