Browsing "1. Journal Papers" by Author : 1249

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Issue DateTitleJournal Title
2017Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION
2018BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumorsNATURE MEDICINE
2015Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsyNATURE MEDICINE
2018Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical DyslaminationNEURON
2019Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsyJOURNAL OF CLINICAL INVESTIGATION
2018Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylationNEUROLOGY-GENETICS
2010Comparison of temporal lobectomies of children and adults with intractable temporal lobe epilepsyCHILDS NERVOUS SYSTEM
2023Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development NATURE GENETICS
2023Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental DisordersJOURNAL OF MOLECULAR DIAGNOSTICS
2016Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)PEDIATRIC NEPHROLOGY
2019Epilepsy Surgery for Children With Low-Grade Epilepsy-Associated Tumors: Factors Associated With Seizure Recurrence and Cognitive FunctionPEDIATRIC NEUROLOGY
2020Epilepsy surgery for pediatric patients with mild malformation of cortical developmentSEIZURE-EUROPEAN JOURNAL OF EPILEPSY
2022Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) Annals of Child Neurology
2021Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) ACTA NEUROPATHOLOGICA COMMUNICATIONS
2017Long-term epilepsy-associated tumor in the amygdala of a 16-year-old boy: report of a rare case having intranuclear filamentsBRAIN TUMOR PATHOLOGY
2008Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditionsEPILEPSIA
2011Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery.EPILEPSIA
2012New Classification of Focal Cortical Dysplasia: Application to Practical Diagnosis Journal of Epilepsy Research
2009Outcome of surgical treatment in non-lesional intractable childhood epilepsySEIZURE-EUROPEAN JOURNAL OF EPILEPSY
2019Precise detection of low-level somatic mutation in resected epilepsy brain tissueACTA NEUROPATHOLOGICA
2010Resective pediatric epilepsy surgery in Lennox-Gastaut syndrome PEDIATRICS
2017Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical DysplasiaAMERICAN JOURNAL OF HUMAN GENETICS
2016Surgical treatment of pediatric focal cortical dysplasia: Clinical spectrum and surgical outcomeNEUROLOGY
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