Using Human Neural Tissue Methylation to Decipher Epigenetic Characteristics and Cell Type Pathologies in Huntington’s Disease
Objective: This study combines methylation data from the two largest EWAS studies in Huntington's Disease (HD) human brain tissue [1,2]. Combined, this study yields the…DNA methylation of CDKN2B/CDKN2B-AS1 enhancer in Huntington’s disease and lung cancer
Objective: The aim of this study was to evaluate the DNA methylation of the CDKN2B/CDKN2B-AS1 enhancer with Huntington's disease and lung cancer. Background: Phenomenon of…Fine-grained prediction of Huntington’s disease stage using a meta-model approach
Objective: We developed a machine learning (ML) framework that facilitates prediction of individual-level Huntington’s disease (HD) stage. The proposed meta-model approach classifies participants according to…Atypical gait in a patient with Huntington’s Disease (HD): Functional movement disorders in the spectrum of motor phenotypes in HD
Objective: We describe a case of Huntington’s disease (HD) associated chorea and concurrent functional movement disorder (FMD). Background: HD is a neurodegenerative disorder characterized by…Cost of Predictive Genetic Testing for Huntington’s Disease at Centers of Excellence in the US
Objective: To characterize the cost of Huntington’s disease predictive genetic testing at Centers of Excellence in the US. Background: Despite the availability of predictive genetic…Risk and timing of manifest Huntington’s disease in patients with reduced penetrance alleles
Objective: To estimate risk of Huntington’s disease (HD) over time in patients with reduced penetrance (RP) alleles (36-39 CAG repeats) overall, by individual repeat length,…Using patient-reported quality of life outcomes to assess the validity of smartphone-based remote assessment of motor and cognitive performance in manifest Huntington’s disease patients
Objective: Explore associations between remote monitoring of cognitive and motor functions and digitally administered, self-assessed EuroQol 5-dimension 5-level (EQ-5D-5L) items. Background: Assessment of cognitive and…Nonmotor Symptoms in Huntington disease in relation to the Diagnostic Confidence Level
Objective: To analyze HD gene carriers’ performance on cognitive and behavioral tests according to the Diagnostic Confidence Level (DCL). Background: The diagnosis of manifest HD…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…Characterizing US Healthcare Delivery in Huntington’s Disease (HD)
Objective: The HD-Net research survey aimed to assess care patterns among practice types in the U.S., to identify gaps in the provision of HD care.…
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