Protective Proteolysis in Huntington's Disease: Unraveling the Role of Post-Translational Myristoylation of Huntingtin in Autophagy [0.03%]
亨廷顿舞蹈病中的保护性蛋白水解：猎取蛋白翻译后肌醇化在自噬作用中所扮演的角色的再发现
Yasmeen Alshehabi,Dale D O Martin
Yasmeen Alshehabi
Huntington's disease (HD) is a devastating neurodegenerative disorder characterized by impaired motor function and cognitive decline, ultimately leading to death. HD is caused by a polyglutamine expansion in the N-terminal region of the hun...
Speech Biomarkers in Huntington's Disease: A Longitudinal Follow-Up Study in Premanifest Mutation Carriers [0.03%]
亨廷顿舞蹈病的语音生物标志物研究——无症状突变基因携带者的纵向队列研究
Carsten Saft,Julia Jessen,Rainer Hoffmann et al.
Carsten Saft et al.
Speech alterations have been reported in manifest Huntington's disease (HD) and premanifest mutation carriers (preHD). The aim of our study was to explore these alterations in preHD and whether they can be used as biomarkers. 13 preHD mutat...
Marian DiFiglia,Blair R Leavitt,Douglas Macdonald et al.
Marian DiFiglia et al.
The field of Huntington's disease research covers many different scientific disciplines, from molecular biology all the way through to clinical practice, and as our understanding of the disease has progressed over the decades, a great deal ...
Refining the Language of Huntington's Disease Progression with the Huntington's Disease Integrated Staging System (HD-ISS) [0.03%]
亨廷顿病进展的语言：亨廷顿病综合分期系统(HD-ISS)的研究
Cristina Sampaio,Sandra K Kostyk,Sarah J Tabrizi et al.
Cristina Sampaio et al.
Genetic Interventions for Spinocerebellar Ataxia and Huntington's Disease: A Qualitative Study of the Patient Perspective [0.03%]
基因干预治疗脊髓小脑共济失调和亨廷顿病：患者视角的定性研究
Nienke J H van Os,Mayke Oosterloo,Brigitte A B Essers et al.
Nienke J H van Os et al.
Background: For various genetic disorders characterized by expanded cytosine-adenine-guanine (CAG) repeats, such as spinocerebellar ataxia (SCA) subtypes and Huntington's disease (HD), genetic interventions are currently ...
White Matter Microstructure Changes Revealed by Diffusion Kurtosis and Diffusion Tensor Imaging in Mutant Huntingtin Gene Carriers [0.03%]
利用扩散阻力度和扩散张量成像检测亨廷顿舞蹈病基因突变携带者白质微结构变化
Jin-Hui Yin,Ya-Ou Liu,Hong-Liang Li et al.
Jin-Hui Yin et al.
Background: Diffusion magnetic resonance imaging (dMRI) has revealed microstructural changes in white matter (WM) in Huntington's disease (HD). Objective:...
Wenxin Song,Lauren Daneman,Alexis Cohen-Oram et al.
Wenxin Song et al.
Huntington's disease (HD) is an autosomal dominant disorder that affects the basal ganglia, caused by CAG repeats in the huntingtin gene. Delusional infestation (DI) is a rare psychotic manifestation of the disease. This report presents two...
Oropharyngeal Dysphagia Phenotypes Across Huntington's Disease Stages: Endoscopic Findings and Tongue Pressure Analysis [0.03%]
亨廷顿病不同阶段的口咽吞咽障碍表型：内镜检查和舌压分析结果
Nicole Pizzorni,Andrea Ciammola,Chiara Pirola et al.
Nicole Pizzorni et al.
Background: Oropharyngeal dysphagia (OD) is a common symptom in Huntington's disease (HD) and is associated with severe health and psychosocial consequences. Different OD phenotypes are defined on the basis of characteris...
Neuroimaging to Facilitate Clinical Trials in Huntington's Disease: Current Opinion from the EHDN Imaging Working Group [0.03%]
促进亨廷顿舞蹈病临床试验的影像学研究：EHDN影像工作组的最新意见
Nicola Z Hobbs,Marina Papoutsi,Aline Delva et al.
Nicola Z Hobbs et al.
Neuroimaging is increasingly being included in clinical trials of Huntington's disease (HD) for a wide range of purposes from participant selection and safety monitoring, through to demonstration of disease modification. Selection of the ap...
Intensification of Diurnal Abnormal Movements During Sleep in Huntington's Disease [0.03%]
亨廷顿病患者的睡眠异常运动日间加重现象
Louis Salaun,Thomas Bonduelle,Imad Ghorayeb et al.
Louis Salaun et al.
Huntington's disease (HD) is a rare neurodegenerative disorder with a distinct phenotype, including involuntary movements, cognitive decline, and behavioral disturbances. Sleep disorder include insomnia, increased sleep onset latency, decre...