Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.
Mastrangelo M et al.
European Journal of Pediatrics, 2024
38954008 (PubMed )
Supplement: 431_2024_5657_MOESM2_ESM.xlsx › Valutazione_varianti
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 2023
37107571 (PubMed )
Supplement: genes-14-00813-s001.zip › genes-2265012-supplementary.pdf
Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.
Daci A et al.
International Journal of Molecular Sciences, 2018
Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Berg AT et al.
Jama Pediatrics, 2017
Atypical Manifestations in Glut1 Deficiency Syndrome.
De Giorgis V et al.
Journal of Child Neurology, 2016
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG et al.
Brain : a Journal of Neurology, 2010
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