- A Case of Dopa-Responsive Dystonia, Segawa Disease
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Kang HC, Lee HS, Kim HD
- KMID: 1582228
- J Korean Child Neurol Soc.
- 2004 May;12(1):99-104.
Segawa disease, hereditary progressive dystonia with marked diurnal fluctuations or defined dopa-responsive dystonia has age-dependent clinical courses, which are characterized with marked progression in the first one and half... -
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- The Effect of GTP Cyclohydrolase I on the Activity and Expression of Tyrosine Hydroxylase and Cell Growth
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Lee YJ, Han IS, Yi SD
- KMID: 2342761
- J Korean Neurol Assoc.
- 1999 Jan;17(1):122-130.
BACKGROUND: Parkinson's Disease (PD) is a progressive neurodegenerative disorder characterized by resting tremor, rigidity, and bradykinesia. L-3,4-dihydroxyphenylalanine (L-dopa) has been used for over last 3 decades to treat this disorder,... -
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- Dopa-responsive Dystonia with a Novel Initiation Codon Mutation in the GCH1 Gene Misdiagnosed as Cerebral Palsy
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Lee JH, Ki CS, Kim DS, Cho JW, Park KP, Kim S
- KMID: 1779403
- J Korean Med Sci.
- 2011 Sep;26(9):1244-1246.
- doi: 10.3346/jkms.2011.26.9.1244
Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by childhood-onset dystonia and a dramatic response to relatively low doses of levodopa. However, patients with DRD can be misdiagnosed as cerebral... -
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- Effects of Deletions in the Regulatory Domain on the Stability and Enzymatic Characteristics of Tyrosine Hydroxylase
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Yoo YS, Yi SD, Lim JK, Kim YS, Nam EJ, Joo WS, Lee U, Lee YJ
- KMID: 1582539
- J Korean Neurol Assoc.
- 2002 Jan;20(1):60-66.
BACKGROUND: Various vectors have been developed and tried for the delivery of tyrosine hydroxylase (TH) in order to supplement dopamine, which is severely deficient in Parkinson's disease, however, none of... -
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- Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele
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Kim YS, Choi YB, Lee JH, Yang SH, Cho JH, Shin CH, Lee SD, Paik MK, Hong KM
- KMID: 756328
- Exp Mol Med.
- 2008 Jun;40(3):271-275.
- doi: 10.3858/emm.2008.40.3.271
Recently it was shown that single nucleotide polymorphisms (SNPs) can explain individual variation because of the small changes of the gene expression level and that the 50% decreased expression of... -
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