Last Updated: 09/26/2026
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Found 52 publications
Expert Consensus on Real-World Use of Trofinetide for Rett Syndrome Using a Modified Delphi Method.
Journal: Annals of the Child Neurology Society
Published: December 15, 2025
Associations between EEG measures and clinical severity in CDKL5 deficiency disorder.
Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: December 04, 2025
Natural history of NGLY1 deficiency: motor function & clinical features.
Journal: Human molecular genetics
Published: November 08, 2025
Gait Analysis in Rett Syndrome: Integrating Linear and Nonlinear Techniques.
Journal: Journal of child neurology
Published: September 19, 2025
Using the linear references from the pangenome to discover missing autism variants.
Journal: Nature communications
Published: August 11, 2025
Pangenome discovery of missing autism variants.
Journal: medRxiv : the preprint server for health sciences
Published: August 08, 2025
Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder.
Journal: Brain and behavior
Published: July 21, 2025
A randomized, placebo-controlled, cross-over trial of ketamine in Rett syndrome.
Journal: Journal of neurodevelopmental disorders
Published: October 18, 2024
International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.
Journal: Trials
Published: September 12, 2024
Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.
Journal: Genes
Published: July 12, 2024
Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study.
Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
Published: July 04, 2024
Last Updated: 09/26/2026