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Huntington's Disease [PDF]

open access: yesCold Spring Harbor Perspectives in Biology, 2011
Huntington's disease (HD) is the most common inherited neurodegenerative disease and is characterized by uncontrolled excessive motor movements and cognitive and emotional deficits. The mutation responsible for HD leads to an abnormally long polyglutamine (polyQ) expansion in the huntingtin (Htt) protein, which confers one or more toxic functions to ...
openaire   +4 more sources

The Many Facets of Unawareness in Huntington Disease

open access: yesTremor and Other Hyperkinetic Movements, 2014
Background: Unawareness or diminished awareness is present when a patient's perception of obvious disease manifestations and impact differ from that of observers such as clinicians or family members.Methods: We examined studies that specifically ...
Elizabeth McCusker, Clement T. Loy
doaj   +1 more source

MicroRNA-124 slows down the progression of Huntington′s disease by promoting neurogenesis in the striatum

open access: yesNeural Regeneration Research, 2015
MicroRNA-124 contributes to neurogenesis through regulating its targets, but its expression both in the brain of Huntington′s disease mouse models and patients is decreased.
Tian Liu   +3 more
doaj   +1 more source

Suicidal behaviour in huntington disease

open access: yesEuropean Psychiatry, 2021
Introduction Huntington Disease (HD) is a genetic, progressive neurodegenerative disorder. Its clinical features include motor dysfunction, cognitive impairments, and psychiatric symptoms.
R. Mota Freitas, M.T. Valadas
doaj   +1 more source

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

open access: yes, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek   +38 more
core   +3 more sources

Anesthetic management of a patient with Huntington's chorea -A case report- [PDF]

open access: yesKorean Journal of Anesthesiology, 2013
Huntington's chorea is a rare hereditary disorder of the nervous system. It is inherited as an autosomal dominant disorder and is characterized by progressive chorea, dementia and psychiatric disturbances.
Jong-Man Kang   +5 more
doaj   +1 more source

Systemic Air Embolism Associated with Pleural Pigtail Chest Tube Insertion

open access: yesCase Reports in Pulmonology, 2016
Pleural pigtail catheter placement is associated with many complications including pneumothorax, hemorrhage, and chest pain. Air embolism is a known but rare complication of pleural pigtail catheter insertion and has a high risk of occurrence with ...
Emad Alkhankan   +3 more
doaj   +1 more source

The phasor-FLIM fingerprints reveal shifts from OXPHOS to enhanced glycolysis in Huntington Disease. [PDF]

open access: yes, 2016
Huntington disease (HD) is an autosomal neurodegenerative disorder caused by the expansion of Polyglutamine (polyQ) in exon 1 of the Huntingtin protein. Glutamine repeats below 36 are considered normal while repeats above 40 lead to HD.
Digman, Michelle A   +3 more
core   +1 more source

Brain Growth in Children at Risk for Huntington Disease

open access: yesPediatric Neurology Briefs, 2012
Researchers at the University of Iowa and Washington University, St Louis, MO, studied the effect of the mutant Huntington gene (mHTT) on measures of growth in children at risk for Huntington disease (HD).
J Gordon Millichap
doaj   +1 more source

A Systems Biology Approach towards Deciphering the Unfolded Protein Response in Huntington's Disease [PDF]

open access: yes, 2012
Although the disease causing gene huntingtin has been known for some time, the exact cause of neuronal cell death during _Huntington's disease_ (HD) remains unknown.
Kameshwar R. Ayasolla   +2 more
core   +2 more sources

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