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BMJ, 2010
#### Summary points Huntington’s disease is a devastating inherited neurodegenerative disease characterised by progressive motor, cognitive, and psychiatric symptoms. Patients may present with any of these symptoms, and familiarity with the phenotype is therefore important.
Marianne J U, Novak, Sarah J, Tabrizi
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#### Summary points Huntington’s disease is a devastating inherited neurodegenerative disease characterised by progressive motor, cognitive, and psychiatric symptoms. Patients may present with any of these symptoms, and familiarity with the phenotype is therefore important.
Marianne J U, Novak, Sarah J, Tabrizi
+9 more sources
Prenatal Diagnosis, 1996
Huntington's disease (HD) is a late-onset degenerative disorder of the central nervous system, caused by a dominantly inherited mutation in a gene on chromosome 4p. The identification of the trinucleotide repeat mutation responsible for this disorder has been an important step towards understanding the molecular pathology of HD, but in the meantime has
Shutish C. Patel +2 more
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Huntington's disease (HD) is a late-onset degenerative disorder of the central nervous system, caused by a dominantly inherited mutation in a gene on chromosome 4p. The identification of the trinucleotide repeat mutation responsible for this disorder has been an important step towards understanding the molecular pathology of HD, but in the meantime has
Shutish C. Patel +2 more
openaire +3 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 ...
J F, Gusella, M E, MacDonald
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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 ...
J F, Gusella, M E, MacDonald
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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
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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 ...
I, Shoulson, T N, Chase
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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 ...
I, Shoulson, T N, Chase
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Seminars in Neurology, 2007
Huntington's disease is an autosomal-dominant, progressive neurodegenerative disorder with a distinct phenotype, including chorea and dystonia, incoordination, cognitive decline, and behavioural difficulties. Typically, onset of symptoms is in middle-age after affected individuals have had children, but the disorder can manifest at any time between ...
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Huntington's disease is an autosomal-dominant, progressive neurodegenerative disorder with a distinct phenotype, including chorea and dystonia, incoordination, cognitive decline, and behavioural difficulties. Typically, onset of symptoms is in middle-age after affected individuals have had children, but the disorder can manifest at any time between ...
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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 ...
Marcy E, MacDonald +3 more
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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 ...
Marcy E, MacDonald +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.
, Haskins, , Harrison
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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.
, Haskins, , Harrison
openaire +2 more sources