Results 141 to 150 of about 9,130,139 (414)
Scientific Reports, 2017 Huntington disease is a fatal neurodegenerative disorder caused by a CAG repeat expansion in the gene encoding the huntingtin protein. Expression of the mutant protein disrupts various intracellular pathways and impairs overall cell function.
Elisabeth Singer +8 more
doaj +1 more source
Brain Sciences, 2014 Huntington disease and other diseases of polyglutamine expansion are each caused by a different protein bearing an excessively long polyglutamine sequence and are associated with neuronal death.
Guylaine Hoffner, Philippe Djian
doaj +1 more source
How young people find out about their family history of Huntington's disease [PDF]
, 2009 Family communication about adult-onset hereditary illness can be problematic, leaving some relatives inadequately informed or ignorant of their risk.
Forrest Keenan, Karen +4 more
core +1 more source
ChemBioChem, Accepted Article.Glutathione (GSH), a tripeptide essential for maintaining redox balance in the human body, plays a critical role in protecting cells from oxidative stress. A deficiency in GSH is linked to increased oxidative damage and the progression of various disorders, including cancer and neurological diseases.
Francesca Milano +6 more
wiley +1 more source
Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification [PDF]
, 2009 Objective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. Design: Case report. Setting: University assisted reproduction unit.
Chow, JFC +6 more
core +1 more source
Harnessing Viral Proteases for Cellular and Molecular Engineering
Chemistry–Methods, EarlyView.Engineered viral proteases (VIPs) provide programmable control of protein function with high specificity and low toxicity. Integrated with chemogenetic and optogenetic modules, these VIP systems enable logic gate manipulation for targeted regulation of cell signaling, gene expression, protein secretion, and degradation, thereby offering versatile ...
Mingguang Cui +2 more
wiley +1 more source
Detection of Gait Abnormalities caused by Neurological Disorders [PDF]
arXiv, 2020 In this paper, we leverage gait to potentially detect some of the important neurological disorders, namely Parkinson's disease, Diplegia, Hemiplegia, and Huntington's Chorea. Persons with these neurological disorders often have a very abnormal gait, which motivates us to target gait for their potential detection.
arxiv
Natural history of Huntington disease.
JAMA Neurology, 2013 IMPORTANCE Understanding the natural history of Huntington disease will inform patients and clinicians on the disease course and researchers on the design of clinical trials.
E. Dorsey +6 more
semanticscholar +1 more source
Longitudinal Beta-Binomial Modeling using GEE for Over-Dispersed Binomial Data [PDF]
, 2016 Longitudinal binomial data are frequently generated from multiple questionnaires and assessments in various scientific settings for which the binomial data are often overdispersed.
Long, Jeffrey D. +2 more
core +1 more source
Annals of the Child Neurology Society, EarlyView.ABSTRACT Objective Attention‐deficit/hyperactivity disorder (ADHD) has been associated with decreased regional brain volume, yet no consistent localization has emerged across studies. This discrepancy has been attributed to ADHD's diagnostic heterogeneity; however, one alternative is that ADHD is associated with alterations of brain networks, not ...
Juliana Wall +5 more
wiley +1 more source