Results 41 to 50 of about 5,067,156 (162)
Metallothioneins and copper metabolism are candidate therapeutic targets in Huntington’s disease [PDF]
, 2010 HD (Huntington's disease) is caused by a polyQ (polyglutamine) expansion in the huntingtin protein, which leads to protein misfolding and aggregation of this protein. Abnormal copper accumulation in the HD brain was first reported more than 15 years ago.
Giorgini, Flaviano +18 more
core +1 more source
Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease. [PDF]
, 2013 OBJECTIVES: To study muscle biopsy tissue from patients with juvenile dermatomyositis (JDM) in order to test the reliability of a score tool designed to quantify the severity of histological abnormalities when applied to biceps humeri in addition to ...
Pilkington, Clarissa A +32 more
core +1 more source
Fluids and Barriers of the CNS, 2022 Huntington’s disease (HD) is an inherited neurodegenerative disease caused by expansion of cytosine–adenine–guanine (CAG) repeats in the huntingtin gene, which leads to neuronal loss and decline in cognitive and motor function.
Raleigh M. Linville +5 more
doaj +1 more source
Neurobiology of Disease, 2022 Huntington's Disease (HD) is a devastating disorder characterized by a triad of motor, psychiatric and cognitive manifestations. Psychiatric and emotional symptoms appear at early stages of the disease which are consistently described by patients and ...
Ened Rodríguez-Urgellés +7 more
doaj +1 more source
Impact of the control for corrupted diffusion tensor imaging data in comparisons at the group level : an application in Huntington disease [PDF]
, 2014 This work was supported by the European Union under the Seventh Framework programme– PADDINGTON Project, Grant Agreement No. 261358, and the European Huntington’s Disease Network (EHDN), project 070 – PADDINGTON.Background: Corrupted gradient directions (
Landwehrmeyer, G.B. +13 more
core +1 more source
Genome Biology, 2021 Background Many neurodegenerative diseases develop only later in life, when cells in the nervous system lose their structure or function. In many forms of neurodegenerative diseases, this late-onset phenomenon remains largely unexplained.
Matan Sorek +17 more
doaj +1 more source
Huntington's disease: An immune perspective [PDF]
, 2011 Copyright © 2011 Annapurna Nayaketal. This article has been made available through the Brunel Open Access Publishing Fund.Huntington's disease (HD) is a progressive neurodegenerative disorder that is caused by abnormal expansion of CAG trinucleotide ...
Kishore, U +9 more
core +1 more source
Neurobiology of Disease, 2012 The pathophysiology of Huntington's disease (HD) is primarily associated with striatal degeneration and a number of behavioral symptoms such as involuntary movements, cognitive decline, psychiatric disorders, and in the most juvenile-onset cases with ...
Michele Pignatelli +3 more
doaj +1 more source
Movement Disorders in Developmental and Epileptic Encephalopathies
Movement Disorders Clinical Practice, EarlyView.Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad +2 more
wiley +1 more source
Frontiers in Cell and Developmental Biology, 2021 Huntington's disease (HD) is a severe autosomal-dominant neurodegenerative disorder caused by a mutation within a gene, encoding huntingtin protein. Here we have used the induced pluripotent stem cell technology to produce patient-specific terminally ...
Vladimir A. Vigont +17 more
doaj +1 more source