×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.
11160968
2001
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
12891655
2003
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
15505183
2004
×
Entrez Id:
2643
Gene Symbol:
GCH1
GCH1
0.120
Biomarker
disease
BEFREE
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency .
15505183
2004
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.
15747353
2005
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
BEFREE
Four mutations in the TyrH gene have recently been described in cases of autosomal recessive DOPA-responsive dystonia (Swaans et al., Ann Hum Genet 2000;64:25-31).
15468323
2005
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
16049992
2005
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.
17698383
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.
18058633
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
17696123
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
17696123
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
17696123
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.
17698383
2007
×
Entrez Id:
2643
Gene Symbol:
GCH1
GCH1
0.120
GeneticVariation
disease
BEFREE
Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1 ) deficiency or autosomal recessive tyrosine hydroxylase deficiency .
18345435
2007
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.
18554280
2008
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
19491146
2009
×
Entrez Id:
6531
Gene Symbol:
SLC6A3
SLC6A3
0.010
Biomarker
disease
BEFREE
Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine.In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by loss-of-function mutations in DAT that impair dopamine reuptake (see the related article beginning on page 1595).
19504720
2009
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
UNIPROT
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
20056467
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
20198643
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
CausalMutation
disease
CLINVAR
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
20198643
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
Biomarker
disease
CLINGEN
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
20198643
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
CausalMutation
disease
CLINVAR
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
20430833
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
20430833
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
CausalMutation
disease
CLINVAR
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
20056467
2010
×
Entrez Id:
7054
Gene Symbol:
TH
TH
0.720
GeneticVariation
disease
CLINVAR
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
20056467
2010