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Huntington's disease [PDF]

open access: yesThe Biomedical & Life Sciences Collection, 2004
Huntington’s disease is an inherited, autosomal dominant, degenerative neurological disorder characterized by dyskinesia (e.g., chorea and other motor abnormalities), nonaphasic dementia, and disorders of mood such as depression (Folstein, 1989; Folstein et al., 1990).
Jean Paul G. Vonsattel, Maxim Lianski
  +15 more sources

Huntington’s Disease [PDF]

open access: yesCold Spring Harbor Perspectives in Biology, 2011
Huntington's disease (HD) is an inherited disorder that causes neurological, cognitive, and psychiatric symptoms. Most patients with HD develop symptoms in all three of these domains, often concurrently. Problems in one area can impact and magnify symptoms in another domain.
openaire   +6 more sources

Longitudinal study of informed consent in innovative therapy research: experience and provisional recommendations from a multicenter trial of intracerebral grafting. [PDF]

open access: yesPLoS ONE, 2015
There is an urgent need to assess and improve the consent process in clinical trials of innovative therapies for neurodegenerative disorders.We performed a longitudinal study of the consent of Huntington's disease patients during the Multicenter Fetal ...
Laurent Cleret de Langavant   +12 more
doaj   +1 more source

Huntington disease [PDF]

open access: yesNature Reviews Disease Primers, 2015
Huntington disease is devastating to patients and their families - with autosomal dominant inheritance, onset typically in the prime of adult life, progressive course, and a combination of motor, cognitive and behavioural features. The disease is caused by an expanded CAG trinucleotide repeat (of variable length) in HTT, the gene that encodes the ...
Bates, Gillian P.   +11 more
  +8 more sources

DNA Mismatch Repair and its Role in Huntington’s Disease

open access: yesJournal of Huntington's Disease, 2021
DNA mismatch repair (MMR) is a highly conserved genome stabilizing pathway that corrects DNA replication errors, limits chromosomal rearrangements, and mediates the cellular response to many types of DNA damage.
R. Iyer, A. Pluciennik
semanticscholar   +1 more source

A Triple Insider's Take on Arts Therapy, Arts-based Community Development, and Huntington's Disease

open access: yesVoices, 2015
In this article, I reflect on my experiences as someone with Huntington's Disease who works professionally as a development ethnomusicologist, and who creates musical, video, and graphic arts for healing in communities I know.
Brian Schrag
doaj   +1 more source

Monkey hybrid stem cells develop cellular features of Huntington's disease

open access: yesBMC Cell Biology, 2010
Background Pluripotent stem cells that are capable of differentiating into different cell types and develop robust hallmark cellular features are useful tools for clarifying the impact of developmental events on neurodegenerative diseases such as ...
Lorthongpanich Chanchao   +9 more
doaj   +1 more source

Huntington’s disease alters human neurodevelopment

open access: yesScience, 2020
Neural progenitors disrupted Symptoms of Huntington's disease (HD) manifest in adulthood despite the aberrant protein being present much earlier in persons carrying the disease-causing mutation. Barnat et al.
M. Barnat   +17 more
semanticscholar   +1 more source

A 24-Hour Study of the Hypothalamo-Pituitary Axes in Huntington's Disease. [PDF]

open access: yesPLoS ONE, 2015
Huntington's disease is an inherited neurodegenerative disorder characterised by motor, cognitive and psychiatric disturbances. Patients exhibit other symptoms including sleep and mood disturbances, muscle atrophy and weight loss which may be linked to ...
Eirini Kalliolia   +10 more
doaj   +1 more source

Gut dysbiosis in Huntington’s disease: associations among gut microbiota, cognitive performance and clinical outcomes

open access: yesBrain Communications, 2020
Huntington’s disease is characterized by a triad of motor, cognitive and psychiatric impairments, as well as unintended weight loss. Although much of the research has focused on cognitive, motor and psychiatric symptoms, the extent of peripheral ...
Cory I Wasser   +6 more
semanticscholar   +1 more source

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