Associated Papers
Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency.
de Gusmao CM et al.
Movement Disorders Clinical Practice, 2025
Phenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single-Center Retrospective Analysis of 51 Cases.
Ban T et al.
Movement Disorders Clinical Practice, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Novel Phenotypes and Deep Intronic Variant Expand TH-Associated Dopa-Responsive Dystonia Spectrum.
Zheng X et al.
Annals of Clinical and Translational Neurology, 2025
Structural recognition and stabilization of tyrosine hydroxylase by the J-domain protein DNAJC12.
Tai MDS et al.
Nature Communications, 2025
Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes.
Zhang J et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.
Jung-Klawitter S et al.
Journal of Inherited Metabolic Disease, 2024
Mouse models for inherited monoamine neurotransmitter disorders.
Thöny B et al.
Journal of Inherited Metabolic Disease, 2024
Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report.
Reyes ZMD et al.
Bmc Medical Genomics, 2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
Prolonged Episodic Dystonia in Tyrosine Hydroxylase Deficiency Due to Homozygous c.698G>A (p.Arg233His) Mutation-A Diagnostic Challenge.
Panda S et al.
Movement Disorders Clinical Practice, 2022
Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia-A Focus on Tyrosine Hydroxylase Deficiency.
Nygaard G et al.
Journal of Personalized Medicine, 2021
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Tristán-Noguero A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Identification of TH Variants in Chinese Dopa-Responsive Dystonia Patients and Long-Term Outcomes.
Li XY et al.
Frontiers in Neurology, 2021
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.
Kim MJ et al.
Journal of Clinical Medicine, 2020
Tyrosine hydroxylase deficiency-Clinical insights and a novel deletion in TH gene in an Indian patient.
Bijarnia-Mahay S et al.
Jimd Reports, 2020
Tyrosine and tryptophan hydroxylases as therapeutic targets in human disease.
Waløen K et al.
Expert Opinion on Therapeutic Targets, 2017
Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms.
Hole M et al.
Biochimica Et Biophysica Acta, 2015
[Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia].
Tan D et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
Fossbakk A et al.
Human Mutation, 2014
Computational study of human tyrosine hydroxylase mutants to uphold [4-(Propan-2-yl) Phenyl]Carbamic acid as a potential inhibitor.
Nawaz MS et al.
Cns & Neurological Disorders Drug Targets, 2014
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
Stamelou M et al.
Neurology, 2012
Tyrosine hydroxylase deficiency in Taiwanese infants.
Chi CS et al.
Pediatric Neurology, 2012
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.
Yeung WL et al.
Journal of Child Neurology, 2011
The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones.
Leandro J et al.
Molecular Genetics and Metabolism, 2011
A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.
Haugarvoll K et al.
Journal of Parkinson's Disease, 2011
Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2.
Calvo AC et al.
Journal of Neurochemistry, 2010
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Willemsen MA et al.
Brain : a Journal of Neurology, 2010
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
Mak CM et al.
Molecular Genetics and Metabolism, 2010
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
Verbeek MM et al.
Annals of Neurology, 2007
Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease.
Yeung WL et al.
Brain & Development, 2006
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
Wevers RA et al.
Journal of Inherited Metabolic Disease, 1999
Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.
Nagatsu T et al.
Molecular Neurobiology, 1999