Associated Papers
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P4-dominant
Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome.
Raja M et al.
The Journal of Membrane Biology, 2020
New insights into GluT1 mechanics during glucose transfer.
Galochkina T et al.
Scientific Reports, 2019
Development of a rapid functional assay that predicts GLUT1 disease severity.
Zaman SM et al.
Neurology. Genetics, 2018
The many faces of Glut1 deficiency syndrome.
Tzadok M et al.
Journal of Child Neurology, 2014
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