Condition: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
rs1057517423 in
TH gene and
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
PMID 22264700 2012 Tyrosine hydroxylase deficiency in Taiwanese infants.
PMID 20823027 2011 Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.
PMID 27934587 2016 Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.
PMID 11196107 2000 Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.
PMID 9703425 1998 A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
PMID 21940685 2012 A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.
PMID 22815559 2012 Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
PMID 8528210 1995 Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
PMID 17696123 2007 Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
PMID 10585338 1999 Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
PMID 18058633 2007 Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.
PMID 9613851 1998 Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.
PMID 15747353 2005 Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.
PMID 7814018 1995 A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.
PMID 16049992 2005 Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
PMID 24753243 2014 Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
PMID 11246459 2000 Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.
PMID 8817341 1996 Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
PMID 15505183 2004 Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
PMID 20056467 2010 Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
PMID 23762320 2013 GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
PMID 20430833 2010 Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
PMID 20198643 2010 Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
PMID 23480488 2013 Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
PMID 25758715 2015 Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
PMID 28087438 2017 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.
PMID 11160968 2001 Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.
PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
PMID 25224241 2014 [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia].
rs549435434 in
TH;MIR4686 gene and
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
PMID 17696123 2007 Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
PMID 25910213 2015 Human gene-centered transcription factor networks for enhancers and disease variants.
PMID 22815559 2012 Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
PMID 17698383 2007 A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.
PMID 9235905 1997 Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription.