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
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
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
Yoshino H et al.
Journal of Neurology, 2018
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.
Scola RH et al.
Arquivos De Neuro-psiquiatria, 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
Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.
Uncini A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.
Steinberger D et al.
Neurology, 2000
Molecular genetics of dopa-responsive dystonia.
Ichinose H et al.
Biological Chemistry, 1999
[The relation between metabolism of biopterin and dystonia-parkinsonism].
Ichinose H et al.
Nihon Shinkei Seishin Yakurigaku Zasshi = Japanese Journal of Psychopharmacology, 1999
Molecular genetics of DOPA-responsive dystonia.
Ichinose H et al.
Advances in Neurology, 1999
High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.
Steinberger D et al.
Annals of Neurology, 1998
Clinical and molecular genetics of primary dystonias.
Müller U et al.
Neurogenetics, 1998
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