Whole exome sequencing in 62 families with early-onset movement disorders, cerebellar ataxia and hereditary spastic paraplegia from Kazakhstan, Tajikistan, and Azerbaijan
Objective: To report the results of whole-exome sequencing (WES) in 62 families with early-onset movement disorders, cerebellar ataxia, and hereditary spastic paraplegia (HSP) from Kazakhstan,…Cannabis treatment in patients with Huntington’s disease in a clinic cohort was safe and effective
Objective: To estimate the safety and efficacy of Cannabis treatment in HD patients. Background: Huntington's disease (HD) is a neurodegenerative progressive disorder inherited in an…GNAO1 related disorders: a clinical, genetic, and therapeutic update
Objective: To review the clinical phenotype and molecular findings of 125 cases with GNAO1-related disorders, delineating the typical phenotype and the phenotypic expansions and tracing…Molecular diagnosis Approch for Huntington’s Disease in Tunisia
Objective: The aim of this study is to establish a molecular diagnosis approach for huntington's Disease (HD) Background: Huntington's disease (HD) is a rare and…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…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,…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…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…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…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…
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