Associated Papers
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.
Nogueira C et al.
Frontiers in Cell and Developmental Biology, 2024
38465286 (PubMed )
Supplement: DataSheet2.docx
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Reply to: Neurometabolic causes of dystonia: Sepiapterin reductase-deficient dopamine- and serotonin-responsive dystonia-plus syndrome.
Phua CS et al.
Journal of the Neurological Sciences, 2021
c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia.
Shalash AS et al.
Neurology. Genetics, 2017
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