Associated Papers
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 2025
Clinical and molecular heterogeneity in CDLK5 disorders.
Vázquez-Montante JJ et al.
Boletin Medico Del Hospital Infantil De Mexico, 2023
Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.
Katayama S et al.
Neural Plasticity, 2020
In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment.
Fahmi M et al.
International Journal of Molecular Sciences, 2019
31717404 (PubMed )
Supplement: ijms-20-05593-s001.zip › supplementary_table.xlsx › Table_S4
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.
Muñoz IM et al.
The Embo Journal, 2018
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
28947817 (PubMed )
Supplement: 41598_2017_11620_MOESM1_ESM.pdf
[Hereditary atransferrinemia].
Loperena L et al.
Boletin Medico Del Hospital Infantil De Mexico, 0
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