Associated Papers
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF et al.
Biorxiv : the Preprint Server for Biology, 2023
37214873 (PubMed )
Supplement: media-1.pdf
A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.
Ghanei M et al.
Human Heredity, 2023
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Weissbach A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency.
Li L et al.
Frontiers in Genetics, 2022
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.
Ohta E et al.
Archives of Neurology, 2006
A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease).
Ohta E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2005
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
Liu TT et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2001
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