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Pediatric Neurology|April 1, 2019
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical ReviewHeather E Olson, Scott T Demarest, Elia M Pestana-Knight, et al.Med (New York, N.Y.)|June 25, 2024
Trofinetide for the treatment of Rett syndrome: Results from the open-label extension LILAC studyAlan K Percy, Jeffrey L Neul, Timothy A Benke, et al.Neurology. Genetics|December 22, 2017
<i>CDKL5</i> variants: Improving our understanding of a rare neurologic disorderRalph D Hector, Vera M Kalscheuer, Friederike Hennig, et al.Epilepsy & Behavior : E&B|April 13, 2021
Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohortÁngel Aledo-Serrano, Patricia Gómez-Iglesias, Rafael Toledano, et al.Nature Medicine|June 8, 2023
Trofinetide for the treatment of Rett syndrome: a randomized phase 3 studyJeffrey L Neul, Alan K Percy, Timothy A Benke, et al.Pediatric Neurology|January 17, 2024
Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett SyndromeJeffrey L Neul, Alan K Percy, Timothy A Benke, et al.American Journal of Medical Genetics. Part A|June 14, 2025
Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 VariantsTalia Thompson, Dennis Gurfinkel, Lori Silveira, et al.Med (New York, N.Y.)|July 18, 2024
Trofinetide for the treatment of Rett syndrome: Long-term safety and efficacy results of the 32-month, open-label LILAC-2 studyAlan K Percy, Jeffrey L Neul, Timothy A Benke, et al.Journal of Neurodevelopmental Disorders|January 25, 2025
A randomized, placebo-controlled, cross-over trial of ketamine in Rett syndromeKathleen Campbell, Jeffrey L Neul, David N Lieberman, et al.Human Molecular Genetics|June 27, 2023
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-functionScott J Myers, Hongjie Yuan, Riley E Perszyk, et al.Pageof 14