Associated Papers
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
Sorrentino U et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.
Jung-Klawitter S et al.
Journal of Inherited Metabolic Disease, 2024
Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency.
Szentiványi K et al.
Prague Medical Report, 2012
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