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- W201162870 abstract "Trinucleotide repeat disorders are a set of genetic disorders characterized by the expansion of certain genes of a segment of DNA that contains a repeat of three nucleotides, thus exceeding the normal stable threshold. These repeats in the DNA cause repeats of a specific amino acid in the protein sequence, and it is the repeated amino acid that results in a defective protein. Huntington's disease is a well-known genetic disorder associated with trinucleotide repeat expansions. Patients first present clinically in midlife and manifest a typical phenotype of sporadic, rapid, and involuntary control of limb movement; stiffness of limbs; impaired cognition; severe psychiatric disturbances; and ultimately, death. There have been a number of therapeutic advances in the treatment of Huntington's disease, such as foetal neural transplantation, RNA interference, and transglutaminase inhibitor. Although there is intensive research into Huntington's disease and recent findings seem promising, effective therapeutic strategies may not be developed until the next few decades." @default.
- W201162870 created "2016-06-24" @default.
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- W201162870 date "2011-09-01" @default.
- W201162870 modified "2023-09-23" @default.
- W201162870 title "Therapeutic advances in the management of Huntington's disease." @default.
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