Browsing "1. Journal Papers" by Author : 3263

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Showing results 1 to 60 of 148

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Issue DateTitleJournal Title
2006A Case of Cogential Fiber Type Disproportion With Multiple Anomalies Journal of the Korean Child Neurology Society
2011A Case of Early Onset MELAS Patient with Wolff-Parkinson-White Syndrome Journal of the Korean Child Neurology Society
2020A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene Journal of Genetic Medicine(대한의학유전학회지)
2022A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1 Annals of Child Neurology
2011A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis Journal of the Korean Child Neurology Society
2022A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease with Acute Bilateral Total Blindness Annals of Child Neurology
2010A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiencyBRAIN & DEVELOPMENT
2021A female patient with Xp21 gene deletion syndrome Journal of Genetic Medicine(대한의학유전학회지)
2017A Large Saccular Aneurysm of the Basilar Artery in a Girl With Acute HemiparesisPEDIATRIC NEUROLOGY
2012A multicenter trial of oxcarbazepine oral suspension monotherapy in children newly diagnosed with partial seizures: a clinical and cognitive evaluationSEIZURE-EUROPEAN JOURNAL OF EPILEPSY
2023A Patient with Doose Syndrome Who Received Low Glycemic Index Treatment Annals of Child Neurology
2022A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy Annals of Child Neurology
2011A1 Segment Hypoplasia/aplasia Detected by Magnetic Resonance Angiography in Neuropediatric Patients Journal of the Korean Child Neurology Society
2018Adverse Events During Perampanel Adjunctive Therapy in Intractable Epilepsy JOURNAL OF CLINICAL NEUROLOGY
2017An Analysis of a Novel, Short-Term Therapeutic Psychoeducational Program for Children and Adolescents with Chronic Neurological Illness and Their Parents; Feasibility and Efficacy FRONTIERS IN NEUROSCIENCE
2012An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis Journal of the Korean Child Neurology Society
2006Analysis of renal biopsies performed in children with abnormal findings in urinary mass screeningACTA PAEDIATRICA
2021Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation FRONTIERS IN NEUROLOGY
2018Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary noteJOURNAL OF INHERITED METABOLIC DISEASE
2010Caregiver's burden and quality of life in mitochondrial diseasePEDIATRIC NEUROLOGY
2020Causality Assessment Guidelines for Adverse Events Following Immunization With a Focus on Guillain-Barré Syndrome VACCINES
2017Cause of Death in Children With Mitochondrial DiseasesPEDIATRIC NEUROLOGY
2021Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial diseaseEUROPEAN JOURNAL OF PEDIATRICS
2008Changing the paradigm of 1-stage total callosotomy for the treatment of pediatric generalized epilepsyJOURNAL OF NEUROSURGERY-PEDIATRICS
2015Chronic inflammatory demyelinating polyneuropathy in children: a report of four patients with variable relapsing courses Korean Journal of Pediatrics
2006Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect Journal of the Korean Child Neurology Society
2020Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome FRONTIERS IN NEUROLOGY
2009Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseasesACTA PAEDIATRICA
2013Clinical Presentations and the Bacterial Meningitis Score in Children with Cerebrospinal Fluid (CSF) Pleocytosis Journal of the Korean Child Neurology Society
2021Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Annals of Child Neurology
2011Comparative trial of low- and high-dose zonisamide as monotherapy for childhood epilepsySEIZURE-EUROPEAN JOURNAL OF EPILEPSY
2021Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report CHILDREN-BASEL
2014Congenital muscular dystrophy type 1A with residual merosin expression Korean Journal of Pediatrics
2018Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation FRONTIERS IN NEUROLOGY
2021DYNC2H1 variants cause Leber congenital amaurosis without syndromic featuresCLINICAL GENETICS
2012Early cardiac evaluation in children with non-specific mitochondrial disease with isolated mitochondrial respiratory chain complex I defect.JOURNAL OF PAEDIATRICS AND CHILD HEALTH
2024Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of ChildhoodINDIAN JOURNAL OF PEDIATRICS
2020Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction Therapeutic Advances in Neurological Disorders
2022Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
2012Effects of cytochrome P450 (CYP)2C19 polymorphisms on pharmacokinetics of phenobarbital in neonates and infants with seizuresARCHIVES OF DISEASE IN CHILDHOOD
2012Effects of lamotrigine on cognition and behavior compared to carbamazepine as monotherapy for children with partial epilepsy.BRAIN & DEVELOPMENT
2024Effects of the coronavirus disease outbreak on the development of neurological disorders in children: A comparison of the incidence of febrile seizure and epilepsy using an interrupted time-series approach JOURNAL OF INFECTION AND PUBLIC HEALTH
2007Efficacy and Tolerability of the Ketogenic Diet According to Lipid:Nonlipid Ratios—Comparison of 3:1 with 4:1 DietEPILEPSIA
2018Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations JOURNAL OF CLINICAL NEUROLOGY
2012Efficacy of VeinViewer in pediatric peripheral intravenous access: a randomized controlled trial.EUROPEAN JOURNAL OF PEDIATRICS
2018Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing BMC MEDICAL GENOMICS
2010Electrocardiography as an early cardiac screening test in children with mitochondrial disease Korean Journal of Pediatrics
2017Enteral Tube Feeding in Paediatric Mitochondrial Diseases SCIENTIFIC REPORTS
2020EPG5 유전자 변이가 확인된 Vici 증후군 1례 Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지)
2021Epidemiological Features and Economic Burden of Guillain-Barré Syndrome in South Korea: A Nationwide Population-Based Study JOURNAL OF CLINICAL NEUROLOGY
2016Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)PEDIATRIC NEPHROLOGY
2012Epilepsy in Korean patients with Angelman syndrome Korean Journal of Pediatrics
2019Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations Frontiers in Neurology
2014Epilepsy-related clinical factors and psychosocial functions in pediatric epilepsyEPILEPSY & BEHAVIOR
2009Evaluation of renal function in children with mitochondrial respiratory chain complex defect: usefulness of cystatin CACTA PAEDIATRICA
2021FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia Annals of Child Neurology
2019Focal cerebellar infarction as an initial sign of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesJournal of Inherited Metabolic Disease
2017Fukuyama 선천성 근이영양증에서의 분자유전학적 분석 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2012Genetic and epileptic features in Rett syndrome YONSEI MEDICAL JOURNAL
2022Genotype-phenotype analysis of MT-ATP6-associated Leigh syndromeACTA NEUROLOGICA SCANDINAVICA

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