Associated Papers
SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights.
Risso B et al.
International Journal of Molecular Sciences, 2025
41373710 (PubMed )
Supplement: ijms-26-11560-s001.zip › ijms-4001327-supplementary.xlsx › Foglio1
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Coleman M et al.
Brain Communications, 2025
39926610 (PubMed )
Supplement: fcaf034_supplementary_data.pdf
Neuropathology and epilepsy surgery - 2024 update.
Blümcke I
Free Neuropathology, 2024
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Lai D et al.
Brain : a Journal of Neurology, 2022
SLC35A2-CDG: Novel variant and review.
Quelhas D et al.
Molecular Genetics and Metabolism Reports, 2021
Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.
Abuduxikuer K et al.
Frontiers in Genetics, 2021
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG et al.
Human Mutation, 2019
Indispensability of transmembrane domains of Golgi UDP-galactose transporter as revealed by analysis of genetic defects in UDP-galactose transporter-deficient murine had-1 mutant cell lines and construction of deletion mutants.
Ishida N et al.
Journal of Biochemistry, 1999
Select a paper to view details