| 2012 | Early cardiac evaluation in children with non-specific mitochondrial disease with isolated mitochondrial respiratory chain complex I defect. | JOURNAL OF PAEDIATRICS AND CHILD HEALTH |
| 2024 | Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood | INDIAN JOURNAL OF PEDIATRICS |
| 2020 | Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction
| Therapeutic Advances in Neurological Disorders |
| 2022 | Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction
| THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS |
| 2012 | Effects of cytochrome P450 (CYP)2C19 polymorphisms on pharmacokinetics of phenobarbital in neonates and infants with seizures | ARCHIVES OF DISEASE IN CHILDHOOD |
| 2012 | Effects of lamotrigine on cognition and behavior compared to carbamazepine as monotherapy for children with partial epilepsy. | BRAIN & DEVELOPMENT |
| 2024 | Effects 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 |
| 2007 | Efficacy and Tolerability of the Ketogenic Diet According to Lipid:Nonlipid Ratios—Comparison of 3:1 with 4:1 Diet | EPILEPSIA |
| 2018 | Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
| JOURNAL OF CLINICAL NEUROLOGY |
| 2012 | Efficacy of VeinViewer in pediatric peripheral intravenous access: a randomized controlled trial. | EUROPEAN JOURNAL OF PEDIATRICS |
| 2018 | Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
| BMC MEDICAL GENOMICS |
| 2010 | Electrocardiography as an early cardiac screening test in children with mitochondrial disease
| Korean Journal of Pediatrics |
| 2017 | Enteral Tube Feeding in Paediatric Mitochondrial Diseases
| SCIENTIFIC REPORTS |
| 2020 | EPG5 유전자 변이가 확인된 Vici 증후군 1례
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
| 2021 | Epidemiological Features and Economic Burden of Guillain-Barré Syndrome in South Korea: A Nationwide Population-Based Study
| JOURNAL OF CLINICAL NEUROLOGY |
| 2016 | Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) | PEDIATRIC NEPHROLOGY |
| 2012 | Epilepsy in Korean patients with Angelman syndrome
| Korean Journal of Pediatrics |
| 2019 | Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
| Frontiers in Neurology |
| 2014 | Epilepsy-related clinical factors and psychosocial functions in pediatric epilepsy | EPILEPSY & BEHAVIOR |
| 2009 | Evaluation of renal function in children with mitochondrial respiratory chain complex defect: usefulness of cystatin C | ACTA PAEDIATRICA |
| 2021 | FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia
| Annals of Child Neurology |
| 2019 | Focal cerebellar infarction as an initial sign of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | Journal of Inherited Metabolic Disease |
| 2017 | Fukuyama 선천성 근이영양증에서의 분자유전학적 분석
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
| 2012 | Genetic and epileptic features in Rett syndrome
| YONSEI MEDICAL JOURNAL |
| 2022 | Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome | ACTA NEUROLOGICA SCANDINAVICA |
| 2019 | Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1
| Korean Journal of Pediatrics |
| 2023 | Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome | PEDIATRIC NEUROLOGY |
| 2022 | High-Dose Prednisolone Therapy for Lennox-Gastaut Syndrome Caused by Fentanyl Intoxication-Induced Toxic Leukoencephalopathy
| Annals of Child Neurology |
| 2020 | Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4
| CHILDREN-BASEL |
| 2020 | Incidence of Guillain-Barré Syndrome is not Associated with Influenza Vaccination in the Elderly
| VACCINES |
| 2010 | Initial experiences with proton MR spectroscopy in treatment monitoring of mitochondrial encephalopathy
| YONSEI MEDICAL JOURNAL |
| 2018 | Integrated diagnostic approach of pediatric neuromuscular disorders
| Journal of Genetic Medicine (대한의학유전학회지) |
| 2010 | Iron deficiency in children with mitochondrial disease | METABOLIC BRAIN DISEASE |
| 2014 | Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.
| YONSEI MEDICAL JOURNAL |
| 2022 | Jacobsen syndrome with bilateral periventricular white matter lesions | WORLD JOURNAL OF PEDIATRICS |
| 2016 | Juvenile Myasthenia Gravis in Korea: Subgroup Analysis According to Sex and Onset Age | JOURNAL OF CHILD NEUROLOGY |
| 2018 | KL1333, a Novel NAD+ Modulator, Improves Energy Metabolism and Mitochondrial Dysfunction in MELAS Fibroblasts
| FRONTIERS IN NEUROLOGY |
| 2006 | Landau-Kleffner syndrome with mitochondrial respiratory chain-complex I deficiency | PEDIATRIC NEUROLOGY |
| 2023 | Leigh Syndrome with MT-ND5 Mutation and Hypertrophic Cardiomyopathy | INDIAN JOURNAL OF PEDIATRICS |
| 2010 | Leigh 증후군 환아에서의 안과적 이상 소견
| Korean Journal of Pediatrics |
| 2015 | Leigh 증후군 환자의 임상적 생화학적 진단
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
| 2019 | Lennox-Gastaut Syndrome in Mitochondrial Disease
| YONSEI MEDICAL JOURNAL |
| 2017 | Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental Decline
| FRONTIERS IN NEUROLOGY |
| 2018 | Long-term Outcome of Resective Epilepsy Surgery in Patients With Lennox-Gastaut Syndrome | PEDIATRICS |
| 2019 | Magnetic resonance spectroscopy in Leigh-MELAS overlap syndrome | World Journal of Pediatrics |
| 2012 | Mitochondria DNA polymorphisms are associated with susceptibility to endometriosis. | DNA AND CELL BIOLOGY |
| 2020 | Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome | EUROPEAN JOURNAL OF ENDOCRINOLOGY |
| 2013 | Mitochondrial disease and epilepsy | BRAIN & DEVELOPMENT |
| 2008 | Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions | EPILEPSIA |
| 2022 | Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndrome | CLINICAL GENETICS |
| 2017 | Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers
| FRONTIERS IN NEUROLOGY |
| 2014 | Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy.
| Korean Journal of Pediatrics |
| 2018 | Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease
| YONSEI MEDICAL JOURNAL |
| 2015 | Neonatal mitochondrial respiratory chain defect and vaginal embryonal rhabdomyosarcoma : possibility of oncogenesis?
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
| 2006 | Neurologic manifestations and treatment of Henoch–Schönlein purpura | BRAIN & DEVELOPMENT |
| 2008 | Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects. | EUROPEAN RADIOLOGY |
| 2008 | Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis. | METABOLIC BRAIN DISEASE |
| 2007 | Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes | CHILDS NERVOUS SYSTEM |
| 2023 | Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea
| FRONTIERS IN NEUROLOGY |
| 2023 | Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea
| YONSEI MEDICAL JOURNAL |
