Revisiting huntingtin activity and localization signals in the context of protein structure [0.03%]
重新探讨 Huntingtin 的活性和定位信号在蛋白质结构中的作用
Ray Truant,Rachel J Harding,Kaitlyn Neuman et al.
Ray Truant et al.
Protein localization signals and activity motifs have been defined within huntingtin since 2003. Advances in technology in protein structure determination by cryo-electron microscopy (EM) have led to 2.6 Å resolution structures of huntingt...
Cognitive impairment in Huntington's disease and its impact on functioning: Concept elicitation and cognitive debriefing for the Huntington's Disease Everyday Functioning (Hi-DEF) scale [0.03%]
亨廷顿舞蹈症中的认知障碍及其对功能表现的影响：亨廷顿舞蹈症日常生活功能量表(Hi-DEF)的概念提取与认知深度访谈研究
Jennifer Petrillo,A Alex Levine,Jason Johannesen et al.
Jennifer Petrillo et al.
Background: Cognitive impairment in Huntington's disease (HD) is a key driver of disability that can have deleterious impacts on everyday functioning. Currently available patient-reported outcome measures may not adequate...
Exploring relationships among gait, balance, and physical activity in individuals with Huntington's disease [0.03%]
探索亨廷顿病患者的步态、平衡和身体活动之间的关系
Lauren E Tueth,Allison M Haussler,Sidney T Baudendistel et al.
Lauren E Tueth et al.
Background: Individuals with Huntington's disease (HD) experience a variety of motor and non-motor symptoms, but little is known about how these symptoms are related to one another. It is important to characterize the def...
Mena Farag,Sarah J Tabrizi,Edward J Wild
Mena Farag
In this edition of the Huntington's Disease Clinical Trials Update, we expand on the ongoing extension study of PTC518 from PTC Therapeutics, including 12-month interim results from the parent study. We also discuss 24-month interim results...
Social cognition profile in early Huntington disease: Insight from neuropsychological assessment and structural neuroimaging [0.03%]
早期亨廷顿病的社会认知特征：来自神经心理学评估和结构神经成像的见解
Marie Caillaud,Mickael Laisney,Alexandre Bejanin et al.
Marie Caillaud et al.
Background: Huntington's disease (HD) is traditionally associated with motor, cognitive, and neuropsychiatric symptoms. Recent observations suggest that disturbances in social cognition may feature prominently in HD, pote...
Sleep-wake cycle and 24-h motor activity in early-mid Huntington's disease patients: An actigraphy-based study [0.03%]
睡眠-觉醒周期和早期中程亨廷顿病患者的24小时运动活动：一项基于actigraphy的研究
Cesa Scaglione,Maria Vitiello,Lorenzo Tonetti et al.
Cesa Scaglione et al.
Background: Disrupted 24-h sleep-wake and rest-activity cycles are known common features in Huntington's disease (HD) patients; however, critical periods during the 24-h cycle have been less studied. Objective: To analyze the differences be...
Are people living with Huntington's disease experiencing person-centered integrated care? [0.03%]
患有亨廷顿病的人是否体验到了以患者为中心的综合护理？
Sandra Bartolomeu Pires,Dorit Kunkel,Nicholas Goodwin et al.
Sandra Bartolomeu Pires et al.
Background: Huntington's disease (HD) is among the most complex long-term neurological conditions, necessitating care and management from multiple partners within and beyond the health sector. However, there is a paucity of evidence describ...
Lack of Evidence for Kynurenine Pathway Dysfunction in Huntington's Disease: CSF and Plasma Analyses from the HDClarity Study [0.03%]
亨廷顿舞蹈病缺乏色氨酸代谢通路功能障碍的证据：来自HDClarity研究的脑脊液和血浆分析结果
Vinod Khetarpal,Todd Herbst,Celia Dominguez et al.
Vinod Khetarpal et al.
Background: Evidence from animal studies and post-mortem studies of brains from people with Huntington's disease (PwHD) has suggested that the kynurenine pathway (KP) may be dysregulated in Huntington's disease (HD). ...
Jared T Hinkle,Erin Wildermuth,Xiao J Tong et al.
Jared T Hinkle et al.
Background: Anosognosia, or unawareness of symptoms, is common in Huntington's disease (HD), but the neuroanatomical basis of this is unknown. Objective: ...
Changes in 24(S)-Hydroxycholesterol Are Associated with Cognitive Performance in Early Huntington's Disease: Data from the TRACK and ENROLL HD Cohorts [0.03%]
24S-羟基胆固醇的变化与早期亨廷顿舞蹈病认知表现的关系：来自TRACK和ENROLL HD队列的数据
Sarah M Gray,Jing Dai,Anne C Smith et al.
Sarah M Gray et al.
Background: There is evidence for dysregulated cholesterol homeostasis in Huntington's disease (HD). The brain-specific cholesterol metabolite 24(S)-hydroxycholesterol (24(S)-OHC) is decreased in manifest HD. 24(S)-OHC is...