| 1 | DPDV, DYT5, GCH1, TH
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| Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.
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| Yang K, Yin R, Lan X, Zhang Y, Cheng H, Wang S, Wang C, Lu Y, Xi J, Lu Q, Huang J, Chen Y.
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| Med Sci Monit 24:751-757.
2018
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| 2 | DPDV, TH
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| A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia.
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| Yan YP, Zhang B, Mao YF, Guo ZY, Tian J, Zhao GH, Pu JL, Luo W, Ouyang ZY, Zhang BR.
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| Int J Neurosci 127(8):694-700. doi: 10.1080/00207454.2016.1236381. Epub 2016 Oct 5.
2017
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| 3 | DPDV, TH
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| Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
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| Stamelou M, Mencacci NE, Cordivari C, Batla A, Wood NW, Houlden H, Hardy J, Bhatia KP.
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| Neurology 79(5):435-41. doi: 10.1212/WNL.0b013e318261714a. Epub 2012 Jul 18.
2012
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| 4 | DPDV, DYT5, GCH1, TH
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| Genotype-phenotype correlates in Taiwanese patients with early-onset recessive parkinsonism.
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| Lee MJ, Mata IF, Lin CH, Tzen KY, Lincoln SJ, Bounds R, Lockhart PJ, Hulihan MM, Farrer MJ, Wu RM.
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| Mov Disord 24(1):104-8.
2009
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| 5 | DPDV, TH
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| A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.
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| Janssen RJ, Wevers RA, Haussler M, Luyten JA, Steenbergen-Spanjers GC, Hoffmann GF, Nagatsu T, Van den Heuvel LP.
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| Ann Hum Genet 64(Pt 5):375-82. 2000
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| 6 | TH, DPDV
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| A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
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| Wevers RA, et al.
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| J Inherit Metab Dis 22(4):364-73. 1999
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| 7 | DPDV, DYT5, GCH1, TH
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| Molecular genetics of dopa-responsive dystonia.
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| Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T.
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| Biol Chem 380(12):1355-64. Review. 1999
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| 8 | DPDV, TH
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| A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
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| van den Heuvel LPWJ, et al.
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| Hum Genet 102 : 644-646. 1998
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| 9 | DPDV, TH
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| Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
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| LŸdecke B, et al.
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| Hum Mol Genet 5 : 1023-1028. 1996
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| 10 | DPDV, TH
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| Frequent sequence variant in the human tyrosine hydroxylase gene.
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| LŸdecke B, et al.
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| Hum Genet 95 : 716. 1995
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| 11 | DPDV, TH
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| Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
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| Knappskog PM, et al.
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| Hum Mol Genet 4 : 1209-1212. 1995
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| 12 | DPDV, TH
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| A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.
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| LŸdecke B, et al.
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| Hum Genet 95 : 123-125. 1995
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