The genetic study of hereditary chorea in Kazakhstan
Objective: To analyze the genetic background of hereditary chorea in Kazakhstani population. Background: Hereditary chorea (HC) is a group of inherited movement disorders presenting with…Interrater Agreement for Movement Disorder Classification in Children with Mixed Movement Disorders
Objective: To determine interrater agreement on the classification component of the Movement Disorders-Childhood Rating Scale (MD-CRS). Background: The MD-CRS consists of three parts: classification, general assessment, and…A Young Patient with Paroxysmal Choreoathetosis
Objective: To describe a rare pediatric movement disorders. Background: The differential diagnosis of paroxysmal movement disorders in children are broad and challenging. Early recognition by…Burden of Huntington’s disease (HD) on loss of employment status and its association with disease stage
Objective: To evaluate the impact of HD on patients’ employment status and understand its association with disease stage. Background: Work disability is an important outcome…Remote monitoring of physical activity and falls in patients with Huntington’s disease using wearable sensors
Objective: To investigate the use of a novel tele-health system to remotely monitor physical activity and falls in patients with Huntington’s disease. Background: Increased physical…Chorea: A Case Series
Objective: To investigate and characterize the different causes of chorea in our cohort of patients and to compare phenotypically those with a positive and negative…TAU pathology contributes to specific patterns of structural brain damage and neuropsychological heterogeneity in Huntington’s disease
Objective: Explore the associations between CSF levels of neurofilament light chain (Nfl), total TAU (tTAU) and phosphorylated TAU (pTAU), structural brain damage and cognitive performance…Automatic classification of abnormal movement in Huntington’s disease using wearable sensors and machine learning
Objective: To integrate wearable sensors into brief clinical assessments and use machine learning to infer HD disease status and predict UHDRS motor subscores for specific…Aceruloplasminemia Presenting as Huntington’s Disease –Look –Alike with Unique MRI Features
Objective: To report case of generalised chorea due to aceruloplasminemia caused by novel mutation in the CP gene Background: Aceruloplasminemia is a type of Neurodegeneration…Detection of Cognitive Changes in Premanifest Huntington’s disease Using the Repeatable Battery for the Assessment of Neuropsychological Status
Objective: The current study is an examination of cognitive changes in premanifest gene carriers for Huntington’s disease (preHD), individuals with manifest Huntington’s disease (HD), and…
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