Associated Papers
Mouse models for inherited monoamine neurotransmitter disorders.
Thöny B et al.
Journal of Inherited Metabolic Disease, 2024
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
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 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
GCH1 mutations in hereditary spastic paraplegia.
Varghaei P et al.
Clinical Genetics, 2021
A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.
Jiang X et al.
Metabolism: Clinical and Experimental, 2019
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.
Zhang W et al.
Neuroscience Letters, 2017
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