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4. Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. Kersseboom S; Kremers GJ; Friesema EC; Visser WE; Klootwijk W; Peeters RP; Visser TJ Mol Endocrinol; 2013 May; 27(5):801-13. PubMed ID: 23550058 [TBL] [Abstract][Full Text] [Related]
5. Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination. Lee JY; Kim MJ; Deliyanti D; Azari MF; Rossello F; Costin A; Ramm G; Stanley EG; Elefanty AG; Wilkinson-Berka JL; Petratos S EBioMedicine; 2017 Nov; 25():122-135. PubMed ID: 29111262 [TBL] [Abstract][Full Text] [Related]
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8. Brain Gene Expression in Systemic Hypothyroidism and Mouse Models of MCT8 Deficiency: The Mct8-Oatp1c1-Dio2 Triad. Morte B; Gil-Ibañez P; Heuer H; Bernal J Thyroid; 2021 Jun; 31(6):985-993. PubMed ID: 33307956 [No Abstract] [Full Text] [Related]
9. Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients. Islam MS; Namba N; Ohata Y; Fujiwara M; Nakano C; Takeyari S; Miyata K; Nakano Y; Yamamoto K; Nakayama H; Kitaoka T; Kubota T; Ozono K Endocr J; 2019 Jan; 66(1):19-29. PubMed ID: 30369548 [TBL] [Abstract][Full Text] [Related]
10. Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels. Boccone L; Dessì V; Meloni A; Loudianos G Eur J Med Genet; 2013 Apr; 56(4):207-10. PubMed ID: 23419639 [TBL] [Abstract][Full Text] [Related]
11. Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. Armour CM; Kersseboom S; Yoon G; Visser TJ PLoS One; 2015; 10(10):e0139343. PubMed ID: 26426690 [TBL] [Abstract][Full Text] [Related]
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13. Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency. Masnada S; Groenweg S; Saletti V; Chiapparini L; Castellotti B; Salsano E; Visser WE; Tonduti D Metab Brain Dis; 2019 Dec; 34(6):1565-1575. PubMed ID: 31332729 [TBL] [Abstract][Full Text] [Related]
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17. Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations. Anık A; Kersseboom S; Demir K; Catlı G; Yiş U; Böber E; van Mullem A; van Herebeek RE; Hız S; Abacı A; Visser TJ Horm Res Paediatr; 2014; 82(4):261-71. PubMed ID: 25247785 [TBL] [Abstract][Full Text] [Related]
18. [The importance of thyroid hormone transporters]. Braun D Nuklearmedizin; 2015; 54(3):77-81. PubMed ID: 26105714 [TBL] [Abstract][Full Text] [Related]
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