| 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 |
| 2023 | Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea | WORLD JOURNAL OF PEDIATRICS |
| 2023 | Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome
| Clinical Nutrition Research |
| 2015 | Ophthalmological manifestations in patients with Leigh syndrome | BRITISH JOURNAL OF OPHTHALMOLOGY |
| 2018 | Ophthalmoplegia in Mitochondrial Disease
| YONSEI MEDICAL JOURNAL |
| 2023 | Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome
| JOURNAL OF CLINICAL NEUROLOGY |
| 2021 | Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease
| FRONTIERS IN PEDIATRICS |
| 2017 | Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial Disease | PEDIATRIC NEUROLOGY |
| 2005 | Prognostic factors of status epilepticus in children
| YONSEI MEDICAL JOURNAL |
| 2017 | Protein C 결핍에서 발생한 소모성 응고질환으로 인한 뇌내출혈로 야기된 뇌성마비 환자에 대한 증례기록
| Journal of the Korean Child Neurology Society |
| 2010 | Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect
| Korean Journal of Pediatrics |
| 2012 | Rufinamide as an adjuvant treatment in children with Lennox-Gastaut syndrome | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
| 2007 | Safe and Effective Use of the Ketogenic Diet in Children with Epilepsy and Mitochondrial Respiratory Chain Complex Defects | EPILEPSIA |
| 2013 | Seizure outcome of infantile spasms with focal cortical dysplasia | BRAIN & DEVELOPMENT |
| 2019 | Systematic Approach for Drug Repositioning of Anti-Epileptic Drugs
| DIAGNOSTICS |
| 2019 | The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS
| YONSEI MEDICAL JOURNAL |
| 2019 | The Author Reply: Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions
| YONSEI MEDICAL JOURNAL |
| 2024 | The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
| 2019 | The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
| YONSEI MEDICAL JOURNAL |
| 2021 | Toxic Leukoencephalopathy by Accidental Oral Ingestion of an Infant’s Fentanyl Patch
| Annals of Child Neurology |
| 2019 | Transient and Adult Patients with Neurologic Diseases in the Pediatric Emergency Department: Trends and Characteristics
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Ultrastructural Changes in Skeletal Muscle of Infants with Mitochondrial Respiratory Chain Complex I Defects
| JOURNAL OF CLINICAL NEUROLOGY |
| 2021 | Unusual Clinical Presentations in a Patient with Novel ADCK3 Variants
| Annals of Child Neurology |
| 2022 | Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome
| Annals of Child Neurology |
| 2012 | Various indications for a modified Atkins diet in intractable childhood epilepsy. | BRAIN & DEVELOPMENT |
| 2004 | 가와사끼병 환아의 혈청 프로테옴 지도 비교
| Korean Journal of Pediatrics |
| 2006 | 대뇌 피질 발달 기형을 동반한 난치성 소아 간질에서 케톤생성 식이요법의 효과
| Korean Journal of Pediatrics |
