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Medrxiv : the Preprint Server for Health Sciences|September 2, 2025
Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR PathwayAaron D Besterman, Gerhard Hellemann, Irma Gutierrez-Mejia, et al.Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|March 9, 2026
An Open-Source Pipeline for Calcium Imaging and All-Optical Physiology in Human Stem Cell-Derived NeuronsWardiya Afshar-Saber, Federico M Gasparoli, Ziqin Yang, et al.Annals of the Child Neurology Society|August 7, 2026
Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis ComplexWendy Xiao Herman, Gillian N Miller, Mustafa Sahin, et al.Cerebral Cortex (New York, N.Y. : 1991)|June 5, 2012
Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disordersWilliam W Lewis, Mustafa Sahin, Benoit Scherrer, et al.Proceedings of the National Academy of Sciences of the United States of America|June 10, 2011
Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficitsBikem Akten, Min Jeong Kye, Le T Hao, et al.Annals of Neurology|October 20, 2021
Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite StudyJamie K Capal, Marian E Williams, Deborah A Pearson, et al.Pediatric Neurology|August 7, 2025
Developmental Trajectories of Adaptive Functioning and Behavior Problems in Children With Co-Occurring Tuberous Sclerosis Complex and Autism Spectrum Disorder, With and Without SeizuresLynnel C Goodman, Melissa A Richard, John P Woodhouse, et al.Journal of Neurodevelopmental Disorders|November 6, 2021
Parent-reported measure of repetitive behavior in Phelan-McDermid syndromeSiddharth Srivastava, Emma Condy, Erin Carmody, et al.American Journal of Medical Genetics. Part A|December 2, 2017
Clinical and genetic characterization of AP4B1-associated SPG47Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, et al.Epilepsia|July 13, 2019
Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complexPeter E Davis, Kush Kapur, Rajna Filip-Dhima, et al.Pageof 57