Speech markers of Presymptomatic and Prodromal Huntington’s disease
Objective: To investigate the sensitivity of digital speech measures for detecting subtle cognitive-linguistic and fine motor features in people carrying the expanded HD gene, with…Motor, epileptic, and developmental phenotypes in genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism
Objective: To provide a detailed clinical characterization of genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism Background: Genetic disorders affecting G-protein coupled receptor (GPCRs) signaling…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…Juvenile Huntington’s Disease in Tunisia: Clinical Diversity and Literature review
Objective: We conducted the first JHD clinical and molecular features in Tunisia and North Africa, contributing to better understanding the diverse manifestation of the disease…Normal chorein protein signal on Western blot despite VPS13A mutations in VPS13A disease
Objective: Follow up on patients with strong clinical evidence on VPS13A disease, despite normal chorein band expression in Western blot. Background: VPS13A disease is a…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…
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