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
Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Iwayama H et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan.
Iwayama H et al.
Frontiers in Neurology, 2021
Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Vancamp P et al.
Frontiers in Endocrinology, 2020
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.
Choi JH et al.
Hormone Research in Paediatrics, 2018
Erratum: Correction: Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.
Unknown Author
Intractable & Rare Diseases Research, 2017
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.
Shimojima K et al.
Intractable & Rare Diseases Research, 2016
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.
Capri Y et al.
Human Mutation, 2013
Genetics and phenomics of thyroid hormone transport by MCT8.
Friesema EC et al.
Molecular and Cellular Endocrinology, 2010
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Vaurs-Barrière C et al.
Annals of Neurology, 2009
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