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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 3, 2024
Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trialJ Downs, P Jacoby, N Specchio, et al.Epilepsia|August 27, 2024
Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorderJacinta M Saldaris, Peter Jacoby, Jenny Downs, et al.Cell Research|November 23, 2011
Direct reprogramming of human fibroblasts into dopaminergic neuron-like cellsXinjian Liu, Fang Li, Elizabeth A Stubblefield, et al.Genes|August 29, 2024
Clinical Features and Disease Progression in Older Individuals with Rett SyndromeJeffrey L Neul, Timothy A Benke, Eric D Marsh, et al.Epilepsy Research|September 26, 2023
The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorderSonja I Ziniel, Alexandra Mackie, Jacinta Saldaris, et al.Annals of Neurology|May 9, 2024
Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related DisordersJoni N Saby, Patrick J Mulcahey, Timothy A Benke, et al.Epilepsia|July 18, 2019
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and developmentScott T Demarest, Heather E Olson, Angela Moss, et al.Annals of Neurology|June 3, 2010
Megalencephalic leukoencephalopathy with cysts without MLC1 defectMarjo S van der Knaap, Vincent Lai, Wolfgang Köhler, et al.Medrxiv : the Preprint Server for Health Sciences|August 8, 2025
Altered oscillatory coupling reflects possible inhibitory interneuron dysfunction in Rett syndromeDevorah Kranz, Yael Braverman, Michelle McCarthy, et al.American Journal of Medical Genetics. Part A|September 28, 2023
Parental age effects and Rett syndromeXiaolan Fang, Lauren M Baggett, Raymond C Caylor, et al.Pageof 14