Epidemiology of Huntington Disease in Tatarstan republic, Russia. One-moment investigation
Objective: This study aims to estimate the prevalence of HD and analyze structure of patients in Tatarstan republic based on data of Republican Consultative and…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…Development of the Huntington’s Disease Integrated Staging System (HD-ISS)
Objective: To propose a new HD framework, referred to as the HD-ISS, that comprises an HD biological research definition and evidence-based staging centered on prognostic…Analysis of cases with Huntington’s disease phenotype and negative genetic test for huntingtin mutations in the Center for Movement Disorders (CETRAM) in Chile
Objective: To describe cases referred to CETRAM suspected of Huntington's disease (HD) according their phenotype, in whom an alternative diagnosis was proposed after ruling out…Genetic analysis of Huntington’s Disease in a Brazilian Amazonian population
Objective: Characterize genetically a series of cases of patients with Huntington’s disease and their family members at risk in the city of Manaus, capital of…The roles of Huntingtin Associated Protein 40 in Huntingtin functions and Huntington’s disease pathogenesis
Objective: Huntington’s disease (HD) is caused by an abnormal expansion of a glutamine tract (polyQ) in huntingtin (HTT), a large scaffold protein with numerous reported…Biological and Clinical Manifestations of Huntington’s disease in Gene Carriers Very Far from Predicted Onset: The Young Adult Study
Objective: To perform a deep phenotyping of a Huntington’s Disease (HD) cohort further from onset than previously studied to establish when disease related markers first…Defining time and anatomical specificity of basal ganglia white matter loss in premanifest Huntington’s disease
Objective: To identify when white matter connections first begin to degenerate in HD and which connections are most susceptible to early degeneration. Background: Huntington’s disease…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…Klebsiella pneumoniae meningitis presenting with chorea
Objective: Klebsiella pneumoniae causes different type of community-acquire and nosocomial infections including pneumonia, sepsis and liver abscess. Klebsiella pneumoniae is considered as the uncommon pathogen…