| 2023 | A Patient with Doose Syndrome Who Received Low Glycemic Index Treatment
| Annals of Child Neurology |
| 2023 | Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome | PEDIATRIC NEUROLOGY |
| 2022 | A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease with Acute Bilateral Total Blindness
| Annals of Child Neurology |
| 2022 | A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy
| Annals of Child Neurology |
| 2022 | A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1
| Annals of Child Neurology |
| 2022 | Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction
| THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS |
| 2022 | Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndrome | CLINICAL GENETICS |
| 2022 | Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome | ACTA NEUROLOGICA SCANDINAVICA |
| 2022 | Jacobsen syndrome with bilateral periventricular white matter lesions | WORLD JOURNAL OF PEDIATRICS |
| 2022 | High-Dose Prednisolone Therapy for Lennox-Gastaut Syndrome Caused by Fentanyl Intoxication-Induced Toxic Leukoencephalopathy
| Annals of Child Neurology |
| 2022 | Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome
| Annals of Child Neurology |
| 2021 | Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation
| FRONTIERS IN NEUROLOGY |
| 2021 | A female patient with Xp21 gene deletion syndrome
| Journal of Genetic Medicine(대한의학유전학회지) |
| 2021 | Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease
| FRONTIERS IN PEDIATRICS |
| 2021 | DYNC2H1 variants cause Leber congenital amaurosis without syndromic features | CLINICAL GENETICS |
| 2021 | Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
| Annals of Child Neurology |
| 2021 | Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report
| CHILDREN-BASEL |
| 2021 | Epidemiological Features and Economic Burden of Guillain-Barré Syndrome in South Korea: A Nationwide Population-Based Study
| JOURNAL OF CLINICAL NEUROLOGY |
| 2021 | Toxic Leukoencephalopathy by Accidental Oral Ingestion of an Infant’s Fentanyl Patch
| Annals of Child Neurology |
| 2021 | Unusual Clinical Presentations in a Patient with Novel ADCK3 Variants
| Annals of Child Neurology |
| 2021 | FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia
| Annals of Child Neurology |
| 2021 | Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease | EUROPEAN JOURNAL OF PEDIATRICS |
| 2020 | A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene
| Journal of Genetic Medicine(대한의학유전학회지) |
| 2020 | EPG5 유전자 변이가 확인된 Vici 증후군 1례
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
| 2020 | Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome | EUROPEAN JOURNAL OF ENDOCRINOLOGY |
| 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 |
| 2020 | 소아기 만성 난치성 질환 환아 보호자의 치료과정에서의 어려움과 정신건강 서비스에 대한 인식
| Korean Journal of Infant Mental Health (영유아아동정신건강연구) |
| 2020 | Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome
| FRONTIERS IN NEUROLOGY |
| 2020 | Causality Assessment Guidelines for Adverse Events Following Immunization With a Focus on Guillain-Barré Syndrome
| VACCINES |
| 2020 | Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction
| Therapeutic Advances in Neurological Disorders |
| 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 |
| 2019 | Focal cerebellar infarction as an initial sign of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | Journal of Inherited Metabolic Disease |
| 2019 | Magnetic resonance spectroscopy in Leigh-MELAS overlap syndrome | World Journal of Pediatrics |
| 2019 | Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
| Frontiers in Neurology |
| 2019 | Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1
| Korean Journal of Pediatrics |
| 2019 | Transient and Adult Patients with Neurologic Diseases in the Pediatric Emergency Department: Trends and Characteristics
| JOURNAL OF CLINICAL NEUROLOGY |
| 2019 | The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
| YONSEI MEDICAL JOURNAL |
| 2019 | Lennox-Gastaut Syndrome in Mitochondrial Disease
| YONSEI MEDICAL JOURNAL |
| 2018 | 진행성 양측 백내장이 동반된 미토콘드리아 질환 1례
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
| 2018 | Integrated diagnostic approach of pediatric neuromuscular disorders
| Journal of Genetic Medicine (대한의학유전학회지) |
| 2018 | 신경질환에서 정맥주사용 면역글로불린 치료의 임상적 이용
| Journal of the Korean Child Neurology Society |
| 2018 | 미토콘드리아 DNA 돌연변이에 따른 Leigh 증후군의 임상 양상 분석
| Journal of the Korean Child Neurology Society |
| 2018 | 미토콘드리아 질환에서 웨스트 증후군 환자의 경련 발생 연령에 따른 임상 양상 비교
| Journal of the Korean Child Neurology Society |
| 2018 | Ophthalmoplegia in Mitochondrial Disease
| YONSEI MEDICAL JOURNAL |
| 2018 | Long-term Outcome of Resective Epilepsy Surgery in Patients With Lennox-Gastaut Syndrome | PEDIATRICS |
| 2018 | KL1333, a Novel NAD+ Modulator, Improves Energy Metabolism and Mitochondrial Dysfunction in MELAS Fibroblasts | FRONTIERS IN NEUROLOGY |
| 2018 | Correlation 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 |
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