Phase-targeted auditory stimulation enhances slow-wave activity during sleep in Huntington's disease: A pilot crossover study [0.03%]
听觉刺激增强亨廷顿病患者睡眠慢波活动：一项交叉试验研究
Andreas A Braun,Jonas Buff,Nora-Hjördis Moser et al.
Andreas A Braun et al.
BackgroundSleep disturbances, including fragmentation and reduced slow-wave sleep (SWS), are common in Huntington's disease (HD). SWS contributes to synaptic homeostasis, metabolic clearance, and memory consolidation. Phase-targeted auditor...
Differential sensitivity of the MMSE and MoCA for staging and longitudinal cognitive change in Huntington's disease [0.03%]
亨廷顿病的认知损害分期和纵向认知变化中MMSE和MoCA的不同敏感性
Krisha Bagga,Ben Shifflett,Anvit Sidhu et al.
Krisha Bagga et al.
ObjectiveTo compare the sensitivity of the Mini-Mental State Examination (MMSE) and the Montreal Cognitive Assessment (MoCA) for detecting cognitive change in Huntington's disease (HD) subjects stratified by baseline performance quartiles a...
Clinical implications of loss of interruption variants for diagnosis, genetic counselling, and clinical trials in Huntington's disease [0.03%]
临床意义中断变异的丧失对亨廷顿舞蹈病的诊断、遗传咨询和临床试验的影响
Hailey Findlay Black,Jessica Levesley,Chris Kay et al.
Hailey Findlay Black et al.
Age of onset in Huntington disease (HD) is influenced by cis-acting genetic variants, particularly the loss of interrupting codons in the HTT CAG and CCG repeats (CAG-CCG LOI variant). The CAG-CCG LOI variant is not detectable by current di...
Blair R Leavitt,Leslie M Thompson
Blair R Leavitt
The sparse evidence-base for self-injurious behavior in Huntington's disease: A call to action [0.03%]
亨廷顿舞蹈症自伤行为的稀疏证据：行动起来
Inga Stewart,Fiona Stone,Esther Gathii
Inga Stewart
The holistic burden of Huntington's disease: A qualitative study of multigenerational impact on individuals and family caregivers across Europe [0.03%]
亨廷顿病的全面负担——欧洲多代家庭个体和家庭照顾者的质性研究
Charlie Albert Smith,Savita Bakhshi Anand,Astri Arnesen et al.
Charlie Albert Smith et al.
Huntington's disease (HD) is a progressive, inherited neurodegenerative condition that imposes a profound, multidimensional burden on individuals with HD and their families. This qualitative study explored the physical, emotional, socioecon...
TRACE: Open-source software for quantifying somatic variation of tandem repeats by capillary electrophoresis [0.03%]
基于毛细管电泳的体细胞串联重复序列突变量化开源软件TRACE
Andrew Jiang,Kevin Correia,Tammy Gillis et al.
Andrew Jiang et al.
Expanded short tandem DNA repeats are implicated in over 60 human disorders. In many, somatic instability (SI) of the repeat plays a critical role in disease pathogenesis. For example, SI in vulnerable neurons is a key driver of clinical sy...
Development-related gene expression disruption in the human midcingulate cortex in Huntington's disease [0.03%]
亨廷顿舞蹈病患者中央扣带回区域与发育相关基因表达的改变
Shelly Scheepers,Mackenzie W Ferguson,Thulani H Palpagama et al.
Shelly Scheepers et al.
Huntington's disease (HD) patients with anterior cingulate cortex atrophy typically exhibit mood symptomatology. However, the midcingulate cortex's (MCC) role in HD is poorly understood. mRNA sequencing was utilized to examine the MCC trans...
Towards AI-driven prediction of HTT CAG size in super-expanded human spiny projection neurons from Huntington disease donors [0.03%]
基于AI预测亨廷顿舞蹈病供者的超扩增人类棘突投射神经元中的HTT CAG大小
Simone Maestri,Davide Scalzo,Martina Zobel et al.
Simone Maestri et al.
Somatic instability (SI) of the CAG tract in HTT is a major driver of neurodegeneration of Spiny Projection Neurons (SPNs), the primary neuronal subtype affected in Huntington's disease (HD). SPNs can accumulate hundreds of CAG repeats duri...
Laura Lynn Chan,Blair R Leavitt
Laura Lynn Chan
Huntingtin (HTT) is an essential pleiotropic gene. Primarily known for its pathogenic role in Huntington's disease (HD), a progressive autosomal dominant neurodegenerative disorder. HD is caused by a CAG expansion located in HTT exon 1 that...