Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Glucose transporter type 1 deficiency syndrome and paroxysmal exercise-induced dyskinesia.
Matar R et al.
Practical Neurology, 2025
Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.
Fischer J et al.
Journal of Molecular Endocrinology, 2015
Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information.
Kleinau G et al.
Thyroid Research, 2011
Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.
Kinne A et al.
The Journal of Biological Chemistry, 2010
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