Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Melissa L. DiBacco"'
Autor:
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Background Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children’s Hospital Intellectual and Developmental Disabilities Researc
Externí odkaz:
https://doaj.org/article/cb335a1bff7e48c685c43cab55795ad8
Publikováno v:
Annals of the Child Neurology Society. 1:75-81
Autor:
Itay Tokatly Latzer, Mariarita Bertoldi, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Paul MacMullin, Daniyal Sachee, Alexander Rotenberg, Henry H. C. Lee, Deniz Aygun, Thomas Opladen, Kathrin Jeltsch, Àngels García‐Cazorla, Jean‐Baptiste Roullet, K. Michael Gibson, Phillip L. Pearl
Publikováno v:
Epilepsia.
Publikováno v:
Journal of Child Neurology. 37:562-567
Objective To determine features of paroxysmal events and background electroencephalographic (EEG) abnormalities associated with electroclinical seizures in critically ill children who undergo continuous video EEG to characterize clinical events. Meth
Publikováno v:
Journal of Child Neurology. 37:5-11
Objective: To describe quantitative EEG (electroencephalography) suppression ratio in children with increased intracranial pressure comparing acute suppression ratio changes to imaging and/or examination findings. Methods: We retrospectively reviewed
Autor:
Arnold J. Sansevere, Mark H. Libenson, Alireza Akhondi-Asl, Bo Zhang, Phillip L. Pearl, Robert C. Tasker, Melissa L. DiBacco
Publikováno v:
Journal of Clinical Neurophysiology. 40:130-135
PURPOSE: We evaluated interictal discharges (IEDs) as a biomarker for the time to development of electrographic seizures (ES). METHODS: Prospective observational study of 254 critically ill children who underwent continuous electroencephalography (cE
Autor:
Jingjing Liu, Harper L. Kaye, Phillip L. Pearl, Melissa L. DiBacco, Melissa Tsuboyama, Alexander Rotenberg
Publikováno v:
J Child Neurol
Background: Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a disorder of GABA degradation with use-dependent downregulation of postsynaptic GABAA/B receptors. We aim to measure the resulting cortical excitation: inhibition ratio using tra
Autor:
Jean Baptiste Roullet, K. Michael Gibson, Melissa L. DiBacco, Phillip L. Pearl, Ellen Hanson, Gajja S. Salomons, Ana Pop
Publikováno v:
DiBacco, M L, Pop, A, Salomons, G S, Hanson, E, Roullet, J B, Gibson, K M & Pearl, P L 2020, ' Novel ALDH5A1 variants and genotype : Phenotype correlation in SSADH deficiency ', Neurology, vol. 95, no. 19, pp. e2675-e2682 . https://doi.org/10.1212/WNL.0000000000010730
Neurology, 95(19), e2675-e2682. Lippincott Williams and Wilkins
Neurology, 95(19), e2675-e2682. Lippincott Williams and Wilkins
ObjectiveTo determine genotype–phenotype correlation in succinic semialdehyde dehydrogenase (SSADH) deficiency.MethodsALDH5A1 variants were studied with phenotype correlation in the SSADH natural history study. Assignment of gene variant pathogenic
Autor:
Tobias Loddenkemper, Mark H. Libenson, Michael J. Rivkin, Ravi R. Thiagarajan, Melissa L. DiBacco, Phillip L. Pearl, Robert C. Tasker, Alireza Akhondi-Asl, Kerri L. LaRovere, Arnold J. Sansevere
Publikováno v:
Neurology. 95:e1372-e1380
ObjectiveTo examine EEG features of major pathophysiology in children undergoing extracorporeal membrane oxygenation (ECMO).MethodsThis was a single-center, retrospective study of 201 pediatric patients on ECMO, using the first 24 hours of continuous
Autor:
Hana M. Mansur, Phillip L. Pearl, Alice McConnell, Carolyn A. Hoffman, K. Michael Gibson, Jean Baptiste Roullet, Melissa L. DiBacco, William B. Rizzo, Mousumi Bose
Publikováno v:
J Child Neurol
Succinic semialdehyde dehydrogenase deficiency (SSADHD), a rare disorder of GABA metabolism, presents with significant neurodevelopmental morbidity. Although there is a growing interest in the concept of quality of life through patient reports as a m