Results 51 to 60 of about 93,886 (309)
Neurocardiovascular deficits in the Q175 mouse model of Huntington's disease. [PDF]
, 2017 Cardiovascular dysautonomia as well as the deterioration of circadian rhythms are among the earliest detectable pathophysiological changes in individuals with Huntington's disease (HD). Preclinical research requires mouse models that recapitulate disease
Colwell, Christopher S +7 more
core +1 more source
, 2016 Modules in blood significantly correlated with HD. This file contains the 8 modules that were identified in blood as being correlated to the HD phenotype. The file describes each module according to the most representative annotations per semantic category (biological processes, cellular component, molecular function, disease or syndrome). (DOC 16.5 kb)
Mina, Eleni +8 more
openaire +1 more source
Metacognitive insight into cognitive performance in Huntington’s disease gene carriers
BMJ Neurology Open, 2022 Objectives Insight is an important predictor of quality of life in Huntington’s disease and other neurodegenerative conditions. However, estimating insight with traditional methods such as questionnaires is challenging and subjected to limitations.
Roger A Barker +3 more
doaj +1 more source
Bioinformatic analysis of a microRNA regulatory network in Huntington's disease [PDF]
Journal of Integrative Neuroscience, 2020 Huntington's disease is an autosomal dominant hereditary neurodegenerative disease characterized by progressive dystonia, chorea and cognitive or psychiatric disturbances.
Zhi-Min Wang, Xiao-Yu Dong, Shu-Yan Cong
doaj +1 more source
, 2016 Significantly correlated modules in brain. This file contains the modules from each brain region (caudate, BA4, BA9 and cerebellum) that were associated with the disease phenotype. The numbers (P v a l u e) indicate the correlation of each module with the disease phenotype. Green: negative correlation, red: positive correlation.
Mina, Eleni +8 more
openaire +1 more source
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS Open Bio, EarlyView.Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein +7 more
wiley +1 more source
Juvenile Huntington’s disease: two case reports and a review of the literature
Journal of Medical Case Reports, 2020 Background Huntington’s disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Usually, the disease symptoms first appear around the age of 40, but in 5–10% of cases, they manifest ...
Sigita Lesinskienė +5 more
doaj +1 more source
PromOTing Quality of Life for Individuals with Huntington’s Disease [PDF]
, 2015 Objectives of Presentation: Describe the symptoms of Huntington’s disease and their impact on functional performance. Recognize the role of occupational therapy in improving quality of life for individuals with Huntington’s disease.
Gentile, OTS, Lyndsay +4 more
core +1 more source