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Eye manifestations in Huntington's disease: an update on the potential of ocular biomarkers. [PDF]
J NeurolWoods WA, Barker RA.
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Dysregulation of miRNAs in Sicilian Patients with Huntington's Disease. [PDF]
Diagnostics (Basel)Salemi M +8 more
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When generations meet: navigating nondisclosure preimplantation genetic testing for Huntington's disease. [PDF]
F S RepKaplun A.
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The Epidemiology of Huntington's Disease in Iceland.
Eur NeurolBriem S +4 more
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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
openaire +3 more sources
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
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 +2 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 ...
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
openaire +2 more sources
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 ...
openaire +3 more sources