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- W2028349338 abstract "Expansion of trinucleotide repeats has been identified as a common mechanism of hereditary neurodegenerative diseases including spinal and bulbar muscular atrophy (SBMA), Huntington's disease, dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), fragile X syndrome, myotonic dystrophy and Friedreich's ataxia. These diseases share unique features, which are difficult to explain based on Mendelian inheritance. These unique clinical genetic features include genetic anticipation and a broad spectrum of clinical presentations, which have been shown to be associated with the instability of the trinucleotide repeats. Recent studies suggest that gene products with expanded polyglutamine tracts may be toxic to neuronal cells, and the mechanisms of neurotoxicity should be thoroughly investigated. To develop therapeutic measures, creation of animal models or cell culture systems for the investigation of neurotoxicity will be indispensable.(Internal Medicine 36: 3-8, 1997)" @default.
- W2028349338 created "2016-06-24" @default.
- W2028349338 creator A5056125632 @default.
- W2028349338 date "1997-01-01" @default.
- W2028349338 modified "2023-09-23" @default.
- W2028349338 title "Molecular Genetics of Triplet Repeats: Unstable Expansion of Triplet Repeats as a New Mechanism for Neurodegenerative Diseases." @default.
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- W2028349338 doi "https://doi.org/10.2169/internalmedicine.36.3" @default.
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