Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation

Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation

(2012) W. Edward Visser et al.   CLINICAL ENDOCRINOLOGY

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects

(2009) Catherine Vaurs-Barrière et al.   ANNALS OF NEUROLOGY

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene

(2009) ARTEMIS D GIKA et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Genes involved in leukodystrophies: A glance at glial functions

(2008) Odile Boespflug-Tanguy et al.   Current Neurology and Neuroscience Reports

Genotype-Phenotype Relationship in Patients with Mutations in Thyroid Hormone Transporter MCT8

(2008) Jurgen Jansen et al.   ENDOCRINOLOGY

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations

(2008) W. Edward Visser et al.   HUMAN MUTATION

1H Magnetic Resonance Spectroscopy in Monocarboxylate Transporter 8 Gene Deficiency

(2008) Paul E. Sijens et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Effective Cellular Uptake and Efflux of Thyroid Hormone by Human Monocarboxylate Transporter 10

(2008) Edith C. H. Friesema et al.   MOLECULAR ENDOCRINOLOGY