Associated Papers
Structural insights into brain thyroid hormone transport via MCT8 and OATP1C1.
Ge Y et al.
Cell, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Groeneweg S et al.
Nature Communications, 2025
40075072 (PubMed )
Supplement: 41467_2025_56628_MOESM6_ESM.xlsx › Figure_6E
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG22
Ganglioglioma with novel molecular features presenting in a child with Allan-Herndon-Dudley syndrome.
Adams JW et al.
Bmj Case Reports, 2022
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Philips AK et al.
Orphanet Journal of Rare Diseases, 2014
[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].
Arvio M et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2014
Select a paper to view details