نتایج جستجو برای: huntington
تعداد نتایج: 5609 فیلتر نتایج به سال:
The Functional Rating Scale Taskforce for pre-Huntington Disease (FuRST-pHD) is a multinational, multidisciplinary initiative with the goal of developing a data-driven, comprehensive, psychometrically sound, rating scale for assessing symptoms and functional ability in prodromal and early Huntington disease (HD) gene expansion carriers. The process involves input from numerous sources to identi...
3 Christopher A. Drummond1, Michael C. Hill1, Huilin Shi1, Xiaoming Fan1, Jeffrey X. Xie1, 4 Steven T. Haller1, David J. Kennedy1, Jiang Liu2, Michael R. Garrett3, Zijian Xie4, 5 Christopher J. Cooper1, Joseph I. Shapiro2, and Jiang Tian1,¥ 6 7 From the Department of Medicine, Division of Cardiovascular Medicine; Center for 8 Hypertension and Personalized Medicine, College of Medicine, Universi...
Hereditary unstable DNA is composed of strings of trinucleotide repeats, in which three nucleotides are repeated over and over (ie CAGCAGCAGCAG). These repeats are found in several sites within genes; depending on their location, the number of triplet repeats in a string can change as it is passed on to offspring. When the number of repeats increases to a critical size, it can have a variety of...
Rigidity and dystonia in Huntington disease (HD) are associated with atrophy of the caudate nucleus and putamen (B). Extensive neuronal loss and gliosis in the cerebral cortex (A,C) in both HD and Alzheimer disease (AD) are responsible for varying degrees of cognitive impairment (however, neurofibrillary tangles and senile plaques are seen only in AD). Understanding a rare genetic disorder can ...
Recent studies have focused on understanding the neural mechanisms underlying the emergence of clinical signs and symptoms in early stage Huntington disease (HD). Although cell-based assays have focused on cell autonomous effects of mutant huntingtin, animal HD models have revealed alterations in the function of neuronal networks, particularly those linking the cerebral cortex and striatum. The...
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