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