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…Genetic features and long-term outcome of Korean patients with Huntington’s disease.
Objective: To investigate the genetic characteristics and long-term outcome of Korean patients with Huntington’s disease. Background: Huntington’s disease is an autosomal dominant neurodegenerative disease, which…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,…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…Mobile application for assessing the likelihood of developing depression in patients with Parkinson’s disease
Objective: To develop a mobile application for assessing the likelihood of developing depression in patients with Parkinson's disease (PwPD), taking into account the number of…GNAO1 related movement disorders: 2 longitudinally-followed cases
Objective: To describe the clinical course, phenomenology, and treatment response in two patients with GNAO1 related movement disorders. Background: Since the initial report of 4…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…Longitudinal dynamics of mutant huntingtin and neurofilament light in Huntington’s disease: the prospective HD-CSF study
Objective: To present the mutant huntingtin (mHTT) and neurofilament light (NfL) findings from the two-year prospective longitudinal HD-CSF study, in which an 80-participant cohort of…SCA48: Ataxia Plus Chorea in a New Spanish Family
Objective: To describe a new family with Spinocerebellar Ataxia 48 (SCA48) characterized by ataxia and mild chorea as the most prominent initial symptoms as well…
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