Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
|
10407773 |
1999 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
[TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia].
|
15476168 |
2004 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.
|
9182249 |
1996 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.
|
26276013 |
2015 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
|
23480488 |
2013 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.
|
28087438 |
2017 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (TH) gene have been described recently.
|
15747353 |
2005 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Because of its key regulatory role in central and peripheral catecholamine synthesis, TH is associated with the pathogenesis of several neurological and psychiatric diseases, including Parkinson's disease, dystonia, schizophrenia, affective disorders, and cardiovascular diseases.
|
23537934 |
2013 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2.
|
20492352 |
2010 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism.
|
10661862 |
1999 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
|
24753243 |
2014 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We expressed isoform 1 of human TH (hTH1) and its dystonia-associated missense variants in E. coli, analysed their quaternary structure and thermal stability using size-exclusion chromatography, circular dichroism, multi-angle light scattering, transmission electron microscopy, small-angle X-ray scattering and assayed hydroxylase activity.
|
30411798 |
2019 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Our results suggest that the interaction of tyrosine hydroxylase and mutant torsinA may contribute to the phenotype and reported dopaminergic dysfunction in torsinA-mediated dystonia.
|
19761814 |
2009 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
|
8817341 |
1996 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
|
15505183 |
2004 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.
|
15468323 |
2005 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Missense mutation in both alleles of the TH gene is known to cause dopamine-related phenotypes, including dystonia and infantile Parkinsonism.
|
20809526 |
2010 |
Dystonia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
These results indicate that tyrosine hydroxylase in the nigrostriatal dopamine neurons may be most sensitive to tetrahydrobiopterin deficiency causing dystonia.
|
9205791 |
1997 |
Dystonia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
It has been suggested that a form of inherited dystonia responsive to levodopa might be due to an abnormality of tyrosine hydroxylase gene.
|
2565377 |
1989 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Tyrosine hydroxylase deficiency with severe clinical course.
|
19282209 |
2009 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Tyrosine hydroxylase deficiency in Taiwanese infants.
|
22264700 |
2012 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
|
12891655 |
2003 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Magnetic stimulation of the nervous system.
|
2019643 |
1991 |
Dystonia
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
|
9703425 |
1998 |