The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease [0.03%]
亨廷顿舞蹈病运动起病年龄遗传修饰因素(GeM MOA)网站:全基因组关联分析揭示亨廷顿舞蹈病的遗传修饰因素
Kevin Correia,Denise Harold,Kyung-Hee Kim et al.
Kevin Correia et al.
Background: Huntington's disease (HD) is a dominantly inherited disease caused by a CAG expansion mutation in HTT. The age at onset of clinical symptoms is determined primarily by the length of this CAG expansion but is a...
Emily Oster,Shirley W Eberly,E Ray Dorsey et al.
Emily Oster et al.
Background: The cohort-level risk of Huntington disease (HD) is related to the age and symptom level of the cohort, but this relationship has not been made precise. ...
Steve Smith,Gibson DCruz,Richard Gray et al.
Steve Smith et al.
Background: The complex effects of Huntington's disease (HD) negatively impact on every area of independent living. The perspectives of people impacted by HD on how to best manage the disease are not clearly understood. ...
Practice Effects and Stability of Neuropsychological and UHDRS Tests Over Short Retest Intervals in Huntington Disease [0.03%]
亨廷顿病患者短期内重复进行神经心理学和UHDRS评估的习得效应及量表稳定性研究
Leigh J Beglinger,William H Adams,Jess G Fiedorowicz et al.
Leigh J Beglinger et al.
Background: In Huntington disease (HD), cognitive changes due to disease-progression or treatment are potentially confounded by "practice effects" (PE)--performance improvement from prior exposure to test materials. ...
Randomized Controlled Trial
Journal of Huntington's disease. 2015;4(3):251-60. DOI:10.3233/JHD-150159 2015
Safety of Striatal Infusion of siRNA in a Transgenic Huntington's Disease Mouse Model [0.03%]
亨廷顿舞蹈病小鼠模型纹状体递送siRNA的安安全性研究
Emily Johnson,Kathryn Chase,Sarah McGowan et al.
Emily Johnson et al.
Background: The immune system In Huntington's disease (HD) is activated and may overreact to some therapies. RNA interference using siRNA lowers mutant huntingtin (mHTT) protein but could increase immune responses. ...
Heba M Mahdy
Heba M Mahdy
Huntington's disease (HD) is an inherited neurodegenerative disorder. Involuntary choreaform movements are the main symptom. The prevalence of HD in Arab countries is not fully understood, as there are only a few reports indicating disease ...
Neuropsychiatry and White Matter Microstructure in Huntington's Disease [0.03%]
亨廷顿病的神经精神表现与白质微结构的关系
Sarah Gregory,Rachael I Scahill,Kiran K Seunarine et al.
Sarah Gregory et al.
Background: Neuropsychiatric symptoms in Huntington's disease (HD) are often evident prior to clinical diagnosis. Apathy is highly correlated with disease progression, while depression and irritability occur at different ...
Abnormal Weight and Body Mass Index in Children with Juvenile Huntington's Disease [0.03%]
少年亨廷顿舞蹈病患者的体重和体质指数异常
Alexander Tereshchenko,Michael McHugh,Jessica K Lee et al.
Alexander Tereshchenko et al.
Background and objectives: The hallmark clinical manifestation of Huntington's disease (HD), namely lower weight and BMI has been reported in prodromal HD (PreHD) adults and also in PreHD children. Here, we aim to evaluat...
"I'm scared of being like mum": The Experience of Adolescents Living in Families with Huntington Disease [0.03%]
"'像妈妈一样让我害怕"——亨廷顿病家庭中青少年的体验
Cara M Mand,Lynn Gillam,Rony E Duncan et al.
Cara M Mand et al.
Background: The debilitating and very visible motor effects of the incurable, progressive, and fatal neurodegenerative condition Huntington disease (HD) are accompanied by more insidious cognitive, behavioural and persona...
Mass Spectrometry Analysis of Wild-Type and Knock-in Q140/Q140 Huntington's Disease Mouse Brains Reveals Changes in Glycerophospholipids Including Alterations in Phosphatidic Acid and Lyso-Phosphatidic Acid [0.03%]
质谱分析野生型和同源重组Q140/Q140亨廷顿舞蹈病小鼠大脑揭示甘油磷脂的变化包括磷脂酸和溶血磷脂酸的改变
Petr Vodicka,Shunyan Mo,Adelaide Tousley et al.
Petr Vodicka et al.
Background: Huntington's disease (HD) is a neurodegenerative disease caused by a CAG expansion in the HD gene, which encodes the protein Huntingtin. Huntingtin associates with membranes and can interact directly with glyc...