Associated Papers
Gene polymorphisms and thyroid hormone signaling: implication for the treatment of hypothyroidism.
Penna GC et al.
Endocrine, 2024
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Vancamp P et al.
Frontiers in Endocrinology, 2020
Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.
Azzolini S et al.
Brain & Development, 2014
Genetics and phenomics of thyroid hormone transport by MCT8.
Friesema EC et al.
Molecular and Cellular Endocrinology, 2010
Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8.
Friesema EC et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2006
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
Dumitrescu AM et al.
American Journal of Human Genetics, 2004
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