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- A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity
- Taewoo Kim, Su Hyeon Ha, Dallah Yoo, Kyung Sun Park, Tae-Beom Ahn
- J Mov Disord. 2023;16(3):339-342. Published online July 24, 2023
- DOI: https://doi.org/10.14802/jmd.23085
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- Metabolic and Volumetric Alterations in the Basal Ganglia and the Cerebellum in Dopa‐Responsive Dystonia in Symptomatic and Asymptomatic GCH1 Mutation Carriers
Jannik Prasuhn, Leon van Well, Marta M. Pokotylo, Feline Hamami, Joke‐Lina Aßmann, Katja Lohmann, Maximilian G. Ködderitzsch‐Mertins, Julia Henkel, Jan Uter, Alexander Münchau, Christine Klein, Anne Weissbach, Norbert Brüggemann
Movement Disorders.2026;[Epub] CrossRef - Phenylalanine–tyrosine–catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies
Martina Isabella Armas Samaniego, Benjamin Arias-Almeida, Andrés León-Piñeiros, Jorge G. Figueroa, Andrea Vargas-Freire, Melissa López, Natalí Solano-Cueva, Juan Carlos Collantes, María de Lourdes Huiracocha-Tutiven, Gabriele Davide Bigoni-Ordóñez, Juan C
Frontiers in Molecular Biosciences.2026;[Epub] CrossRef
- Metabolic and Volumetric Alterations in the Basal Ganglia and the Cerebellum in Dopa‐Responsive Dystonia in Symptomatic and Asymptomatic GCH1 Mutation Carriers
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