Associated Papers
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.
Fang S et al.
Journal of Inherited Metabolic Disease, 2025
40320765 (PubMed )
Supplement: JIMD-48-0-s001.xlsx › Sheet1
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature.
Zhang M et al.
Frontiers in Pediatrics, 2022
The Functions of ZIP8, ZIP14, and ZnT10 in the Regulation of Systemic Manganese Homeostasis.
Winslow JWW et al.
International Journal of Molecular Sciences, 2020
Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14.
Zeglam A et al.
Acta Neurologica Belgica, 2019
Genetic Disorders of Manganese Metabolism.
Anagianni S et al.
Current Neurology and Neuroscience Reports, 2019
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K et al.
Nature Communications, 2016
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