Sarah B Thomson,Blair R Leavitt
Sarah B Thomson
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide expansion in the HTT gene, which encodes for an abnormal polyglutamine tract in the huntingtin protein (HTT). This review examines t...
Longitudinal Biochemical Assay Analysis of Mutant Huntingtin Exon 1 Protein in R6/2 Mice [0.03%]
R6/2小鼠突变亨廷顿蛋白 exon1的纵向生化分析
Eva L Morozko,Joseph Ochaba,Sarah J Hernandez et al.
Eva L Morozko et al.
Background: Biochemical analysis of mutant huntingtin (mHTT) aggregation species in HD mice is a common measure to track disease. A longitudinal and systematic study of how tissue processing affects detection of conformer...
Disease Progression in Huntington Disease: An Analysis of Multiple Longitudinal Outcomes [0.03%]
亨廷顿病的疾病进展：多纵向结果分析
Tanya P Garcia,Yuanjia Wang,Ira Shoulson et al.
Tanya P Garcia et al.
Background: Critical to discovering targeted therapies for Huntington disease (HD) are validated methods that more precisely predict when clinical outcomes occur for different patient profiles. ...
Possible Role of the Polyglutamine Elongation in Evolution of Amyloid-Related Evolvability [0.03%]
多谷氨酰胺延长在淀粉样相关进化的进化中的潜在作用
Makoto Hashimoto,Gilbert Ho,Yoshiki Takamatsu et al.
Makoto Hashimoto et al.
The polyglutamine (polyQ) diseases, such as Huntington's disease and the spinocerebellar ataxias, are characterized by the accumulation of elongated polyQ sequences (epolyQ) and mostly occur during midlife. Considering that polyQ disorders ...
Young People Living at Risk of Huntington's Disease: The Lived Experience [0.03%]
年轻的风险性亨廷顿舞蹈病携带者：生活体验研究
Miranda F Lewit-Mendes,Georgia C Lowe,Sharon Lewis et al.
Miranda F Lewit-Mendes et al.
Background: For young people in families with Huntington's disease (HD) the challenge of having an affected family member (AFM) compounds challenges related to being at risk of HD themselves. ...
Selective Neuronal Uptake and Distribution of AAVrh8, AAV9, and AAVrh10 in Sheep After Intra-Striatal Administration [0.03%]
经纹状体给药后鞘内注射AAVrh8、AAV9和AAVrh10在羊中的选择性神经元摄取和分布
Erica Mondo,Richard Moser,Guangping Gao et al.
Erica Mondo et al.
Background: Transgenic sheep are currently the only large animal model of Huntington's disease expressing full-length mutant human huntingtin. These transgenic sheep provide an opportunity to test adeno associated virus (...
Cognitive Performance After a One-Year Multidisciplinary Intensive Rehabilitation Program for Huntington's Disease: An Observational Study [0.03%]
亨廷顿病患者一年综合性强化康复干预的认知效果：一项观察性研究
Marleen R van Walsem,Anu Piira,Geir Mikalsen et al.
Marleen R van Walsem et al.
Background: Studies of physical therapy and multidisciplinary rehabilitation programs for Huntington's disease (HD) have shown improvements in gait function, balance, and physical quality of life. There is a gap in the li...
Observational Study
Journal of Huntington's disease. 2018;7(4):379-389. DOI:10.3233/JHD-180294 2018
Tetrabenazine Treatment Patterns and Outcomes for Chorea Associated with Huntington Disease: A Retrospective Chart Review [0.03%]
亨廷顿病伴 chorea患者四苯扎林的治疗方案和疗效：回顾性病历研究
Daniel O Claassen,Ravi G Iyer,Bijal Shah-Manek et al.
Daniel O Claassen et al.
Background: Huntington disease (HD) is a neurodegenerative disorder characterized by motor impairments (including chorea), along with behavioral, psychiatric, and cognitive symptoms. Tetrabenazine was the first US Food an...
Huntington's Disease and Employment: The Relative Contributions of Cognitive and Motor Decline to the Decision to Leave Work [0.03%]
亨廷顿舞蹈病与就业状况：认知和运动功能减退对工作离职决策的相对影响
Kristen Watkins,Jennifer Purks,Anagha Kumar et al.
Kristen Watkins et al.
Background: Huntington's disease (HD) presents with motor, cognitive, and behavioral symptoms that impair functional capacity and the ability to maintain employment. The relative contribution of cognitive decline to work ...
Observational Study
Journal of Huntington's disease. 2018;7(4):367-377. DOI:10.3233/JHD-180296 2018
Filipe B Rodrigues,Edward J Wild
Filipe B Rodrigues
In the third edition of the Huntington's Disease Clinical Trials Corner we list all currently registered and ongoing clinical trials, expand on the SIGNAL trial (NCT02481674), and cover the recently finished CREST-E trial (NCT00712426). ...