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The Lancet, 2010 Multiple lines of evidence have implicated neuroinflammation as both a cause and an effect of neurodegeneration in Huntington’s disease (HD). Studies of post mortem human HD brains and HD mouse models have demonstrated that the huntingtin protein (mHTT) has neurotoxic effects due to cell-autonomous defects in neurons and through cell-cell interactions ...
Hoppitt, T +4 more
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Nature 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 ...
Gillian P. Bates +11 more
semanticscholar +6 more sources
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 ...
Gillian P. Bates +11 more
semanticscholar +6 more sources
Seminars in Cell Biology, 1995
Early in 1993, an unstable, expanded trinucleotide repeat in a novel gene of unknown function was identified on HD chromosomes. This discovery unleased a flurry of experimentation that has established the expanded CAG repeat the almost universal cause of the characteristic neurologic symptoms and pathology of this neurodegenerative disorder of midlife ...
Marcy E. MacDonald, James F. Gusella
openaire +4 more sources
Early in 1993, an unstable, expanded trinucleotide repeat in a novel gene of unknown function was identified on HD chromosomes. This discovery unleased a flurry of experimentation that has established the expanded CAG repeat the almost universal cause of the characteristic neurologic symptoms and pathology of this neurodegenerative disorder of midlife ...
Marcy E. MacDonald, James F. Gusella
openaire +4 more sources
Annual Review of Medicine, 1975
Huntington'S disease (HD) is an autosomal dominant disorder associated with neuronal degeneration especially involving the basal ganglia and cerebral cortex. The cardinal signs of dementia and involuntary movements usually appear in middle life. Although the pathogenesis of this disease remains unknown, its course progres sive, and the efficacy of ...
T N Chase +3 more
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Huntington'S disease (HD) is an autosomal dominant disorder associated with neuronal degeneration especially involving the basal ganglia and cerebral cortex. The cardinal signs of dementia and involuntary movements usually appear in middle life. Although the pathogenesis of this disease remains unknown, its course progres sive, and the efficacy of ...
T N Chase +3 more
openaire +3 more sources
2014
Changes in the level and activity of brain-derived neurotrophic factor (BDNF) have been described in a number of neurodegenerative disorders since early 1990s. However, only in Huntington disease (HD) gain- and loss-of-function experiments have mechanistically linked these abnormalities with the genetic defect.In this chapter we will describe how ...
C. Zuccato, E. Cattaneo
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Changes in the level and activity of brain-derived neurotrophic factor (BDNF) have been described in a number of neurodegenerative disorders since early 1990s. However, only in Huntington disease (HD) gain- and loss-of-function experiments have mechanistically linked these abnormalities with the genetic defect.In this chapter we will describe how ...
C. Zuccato, E. Cattaneo
openaire +3 more sources
NeuroMolecular Medicine, 2003
Huntington's disease (HD) research is aimed at understanding the root cause of the disorder, for the thrill of uncovering new biology, and for the serious purpose of finding effective therapeutic agents. Molecular genetics has revealed the disease trigger, an inherited unstable CAG expansion in a novel 4p16.3 gene (HD), that lengthens a polyglutamine ...
Vanessa C. Wheeler +3 more
openaire +4 more sources
Huntington's disease (HD) research is aimed at understanding the root cause of the disorder, for the thrill of uncovering new biology, and for the serious purpose of finding effective therapeutic agents. Molecular genetics has revealed the disease trigger, an inherited unstable CAG expansion in a novel 4p16.3 gene (HD), that lengthens a polyglutamine ...
Vanessa C. Wheeler +3 more
openaire +4 more sources
Current Treatment Options in Neurology, 2000
Huntington's disease is a neurodegenerative disorder inherited in an autosomal dominant fashion that results in involuntary movements, psychiatric symptoms, and cognitive dysfunction. The illness typically begins in midlife and progresses over 15 to 20 years, producing increasing disability.
Madaline B. Harrison, Barbara A. Haskins
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Huntington's disease is a neurodegenerative disorder inherited in an autosomal dominant fashion that results in involuntary movements, psychiatric symptoms, and cognitive dysfunction. The illness typically begins in midlife and progresses over 15 to 20 years, producing increasing disability.
Madaline B. Harrison, Barbara A. Haskins
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2012
Huntington’s disease (HD) is an autosomal dominantly inherited, fatal neurodegenerative disorder, named for George Huntington, the author of the first definitive report of the condition in 1872. It is characterized by the progressive development of involuntary choreiform movements, although neuropsychiatric symptoms are sometimes the earliest and often
M. Flint Beal, Raphael M. Bonelli
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Huntington’s disease (HD) is an autosomal dominantly inherited, fatal neurodegenerative disorder, named for George Huntington, the author of the first definitive report of the condition in 1872. It is characterized by the progressive development of involuntary choreiform movements, although neuropsychiatric symptoms are sometimes the earliest and often
M. Flint Beal, Raphael M. Bonelli
openaire +3 more sources
Psychiatric Clinics of North America, 1997
Huntington's disease is a genetically inherited degenerative neuropsychiatric disorder, characterized by motor alterations, including involuntary movements such as chorea, dementia and psychiatric disturbances. In this article, the authors review the clinical features of the disease. They also analyze some genetic and pathophysiologic aspects, that can
Mônica Santoro Haddad +1 more
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Huntington's disease is a genetically inherited degenerative neuropsychiatric disorder, characterized by motor alterations, including involuntary movements such as chorea, dementia and psychiatric disturbances. In this article, the authors review the clinical features of the disease. They also analyze some genetic and pathophysiologic aspects, that can
Mônica Santoro Haddad +1 more
openaire +3 more sources
Care Management Journals, 2008
Huntington's disease (HD) is a hereditary neurodegenerative disorder involving slow, progressive loss of functional capacities. Motor, psychiatric, and cognitive deterioration interfere with activities of independent living, gait, speech, and, ultimately, swallowing.
openaire +3 more sources
Huntington's disease (HD) is a hereditary neurodegenerative disorder involving slow, progressive loss of functional capacities. Motor, psychiatric, and cognitive deterioration interfere with activities of independent living, gait, speech, and, ultimately, swallowing.
openaire +3 more sources