Validation of smartphone-based active tests with structural neuroimaging in Huntington’s disease
Objective: Explore the association of smartphone-based active tests in the Roche Huntington’s disease (HD) Digital Monitoring Platform (dMP) with brain imaging. Background: Remote digital monitoring…Comparison of correlations of structural magnetic resonance imaging measures with smartphone-based active tests and clinical tests in Huntington’s disease
Objective: The current study aims to explore the similarities and differences between neuronal correlates of established clinical or novel Roche Huntington’s disease (HD) Digital Monitoring…The Huntington’s Disease Structured Interview of Function (HD-SIF): A remotely administered caregiver interview for later stage HD
Objective: To create structured interviews for the UHDRS ’99 functional scales that can be remotely administered to caregivers of Huntington’s disease gene expansion carriers (HDGECs)…An unusual case of belly dancer´s dyskinesia in a man with Huntington disease
Objective: Our objective was to describe the presence of Belly Dancer’s dyskinesia (BBD) in a Huntington`s Disease (HD) patient with predominantly behavorial symptoms. Background: BDD…Quantifying Tremor in the R6/2 Mouse model of Huntington’s Diease
Objective: To better characterize and precisely quantify the tremor widely observed in R6/2 mouse models of Huntington’s disease. Background: Tremor is a prominent feature of…Healthcare utilization in individuals with late onset versus adult-onset Huntington’s disease
Objective: To assess healthcare utilization (HCU) among patients (pts) with late-onset Huntington’s disease (LoHD) versus adult-onset HD (AoHD) and non-HD controls. Background: HD typically manifests…Visual cognition differences between asymptomatic and symptomatic carriers of Huntington’s disease (HD)
Objective: This study aims to analyze the visual cognition profile of asymptomatic and symptomatic carriers of Huntington's disease (HD), compared with healthy controls (HC), and…Akinetic-rigid motor presentation among adult-onset HD participants in Enroll-HD
Objective: To characterize a variant of adult Huntington’s disease (HD) with akinetic-rigid syndrome (ARS) as initial motor manifestation Background: HD Cases have been reported with…Founder effect in (TTTTA)exp(TTTCA)exp and pure (TTTTA)exp in familial cortical myoclonic tremor with epilepsy type 1-SAMD12 locus
Objective: To detect the founder effect between familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) patients with (TTTTA)exp(TTTCA)exp (exp, expansion) in SAMD12 and healthy controls with…Intergenerational repeat instability of TTTCA expansions in SAMD12 might be the major cause of the genetic anticipation in familial cortical myoclonic tremor with epilepsy
Objective: To delineate and analyze the relationship between genetic and clinical features in 78 patients from 23 familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) pedigrees. Background:…
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