Showing results (1-10 of 15) with videos related to
Sort By:
Pageof 2
BMJ Case Reports|July 27, 2025
Rapid genetic testing in the PICU: uncovering COL4A2-related GOULD syndrome in super-refractory status epilepticusKyle Chandler Sporn, Ria Garg, Ai SakonjuRadiology Case Reports|June 21, 2021
Pediatric fibrocartilaginous spine embolism induced by traumaNeveada Raventhiranathan, Kalliopi Petropoulou, Ai Sakonju, et al.Nature Clinical Practice. Neurology|September 23, 2006
Anti-Ma2-associated encephalitis with normal FDG-PET: a case of pseudo-Whipple's diseaseJames Castle, Ai Sakonju, Josep Dalmau, et al.Brain & Development|November 14, 2008
Aicardi syndrome mimicking intrauterine hydrocephalusDeivasumathy Muthugovindan, Eric H Kossoff, Ai Sakonju, et al.Clinical Case Reports|December 3, 2019
Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18Dawn Brianna Lammert, David Miedema, Josiree Ochotorena, et al.Journal of Child Neurology|October 3, 2022
Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 DiseaseMai-Lan Ho, Elaine C Wirrell, Kalliopi Petropoulou, et al.Muscle & Nerve|August 26, 2010
Compound muscle action potential and motor function in children with spinal muscular atrophyAga Lewelt, Kristin J Krosschell, Charles Scott, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2020
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophyDenise M Kay, Colleen F Stevens, April Parker, et al.Neurology|July 14, 2022
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 YearsBo Hoon Lee, Stella Deng, Claudia A Chiriboga, et al.Muscle & Nerve|August 24, 2017
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type IKristin J Krosschell, John T Kissel, Elise L Townsend, et al.Pageof 2