Associated Papers
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF et al.
Biorxiv : the Preprint Server for Biology, 2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia.
Alves Júnior AC et al.
Molecular Genetics and Metabolism Reports, 2022
Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.
Li N et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
Yoshino H et al.
Journal of Neurology, 2018
A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report.
Yang CC et al.
Clinical Neurology and Neurosurgery, 2018
Atypical presentation of dopa-responsive dystonia in Taiwan.
Weng YC et al.
Brain and Behavior, 2018
Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.
Leuzzi V et al.
Jimd Reports, 2013
High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia.
Wu-Chou YH et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010
Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.
Cao L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
Trender-Gerhard I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family.
Souza CP et al.
Genetics and Molecular Research : Gmr, 2008
[Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
Ye J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Thöny B et al.
Human Mutation, 2006