Study protocol for the iMarkHD study in individuals with Huntington's disease [0.03%]
针对亨廷顿舞蹈病个体的iMarkHD研究方案
Daniel J van Wamelen,Naomi H Martin,Orsolya Makos et al.
Daniel J van Wamelen et al.
Background: Huntington's disease (HD) is still often defined by the onset of motor symptoms, inversely associated with the size of the CAG repeat expansion in the huntingtin gene. Although the cause of HD is known, much remains unknown abou...
Quality of care through the eyes of residents with Huntington's disease living in a nursing home: A qualitative explorative study [0.03%]
居住在养老院的亨廷顿病患者的护理质量：一项定性研究
Joyce Cf Heffels,Mayke Oosterloo,Bram de Boer et al.
Joyce Cf Heffels et al.
Background: Moving to a nursing home is often unavoidable for late-stage patients with Huntington's disease (HD). Specialized care is needed, adjusted to the specific needs and characteristics of this usually young group within the nursing ...
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...