Štúdie a články
Slovenské články a štúdie
Vedecko-odborný lekársky časopis PEDIATRIA, 5/2014
Doc. MUDr. Vladimír Bzdúch, CSc., MUDr. Miriam Kolníková, PhDr. Katarína Jariabková, PhD.
Rettov syndróm: História, klinické príznaky a atypické formy
Zahraničné články a štúdie preložené do slovenčiny
CDKL5 UK - Dr. David Millar, CDKL5 UK Study / Štúdia CDKL5 UK, 8/2015
Protein Replacement Therapy Update /Proteínová substitučná terapia, 6/2015
Zahraničné články a štúdie v pôvodnom znení
Human Mlecular Genetic, 3/2017
Raffaele Mazziotti, Leonardo Lupori, Giulia Sagona, Mariangela Gennaro, Grazia Della Sala, Elena Putignano, Tommaso Pizzorusso
Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice
Folia Biol (Praha), 4/2016
Záhoráková D., Langová M., Brožová K., Laštůvková J., Kalina Z., Rennerová L., Martásek P.
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy
Journal of Neurodevelopmental Disorders 2015, 7:2, 1/2015
There is variability in the attainment of developmental milestones in the CDKL5 disorder.
Journal of Biological Chemistry 2015, 1/2015
Synaptic synthesis, dephosphorylation and degradation: a novel paradigm for an activity dependent neuronal control of CDKL5.
www.ScienceTranslationalmedicine.org 2014, 11/2014
Catastrophic Childhood Epilepsy: A Recent Convergence of Basic and Clinical Science.
European Journal of Human Genetics 2014, 10/2014
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
Neurobiology of Diseases 2014, 10/2014
Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling.
BMC Medical Genetics 2014, 10/2014
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
PLOS 2014, 5/2014
Mapping pathological phenotypes in a mouse model of CDKL5 Disorder.
CDKL5 UK, 5/2013
Protein replacement therapy
Pediatric Neurology 2013, 5/2013
CDKL5 and ARX mutations in males with early-onset epilepsy.
European Journal of Human Genetics 2013, 8/2012
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
Developmental Medicine & Child Neurology 2012, 7/2012
Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.