Matches in SemOpenAlex for { <https://semopenalex.org/work/W2142783642> ?p ?o ?g. }
- W2142783642 abstract "Huntington's Disease (HD) is an autosomal dominant, neurodegenerative disease. It is characterized by severe involuntary motor dysfunction, so-called choreic movements, neurological and psychiatric symptoms and cognitive impairments that lead to dementia (Bates et al., 2002). Genetic markers for the gene that causes HD were identified in 1983, located on the short arm of chromosome four (Gusella et al., 1983). Ten years later in 1993 the gene was cloned (Huntington’s Disease Collaborative Research Group, 1993). HD was thus from the mid-1980s one of the first diseases where it was possible to predict whether an asymptomatic individual had inherited the genetic markers and would therefore become ill in the future. The clinical diagnosis of HD is based on the presence of motor symptoms and a positive mutation analysis, or on neurological and psychiatric symptoms in patients with a family history of HD." @default.
- W2142783642 created "2016-06-24" @default.
- W2142783642 creator A5032968308 @default.
- W2142783642 creator A5066862225 @default.
- W2142783642 date "2012-02-15" @default.
- W2142783642 modified "2023-10-04" @default.
- W2142783642 title "Cognition in Huntington's Disease" @default.
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