Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG22
Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening.
Lin P et al.
Pharmacogenomics and Personalized Medicine, 2025
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
Wayhelova M et al.
Orphanet Journal of Rare Diseases, 2024
38321498 (PubMed )
Supplement: 13023_2024_3056_MOESM5_ESM.xlsx › All_variants
Treatment with TRIAC in pediatric patients with MCT8.
Gazek N et al.
Archivos Argentinos De Pediatria, 2023
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
Friesema EC et al.
Lancet (london, England), 0
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