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 |
2018 | Adverse Events During Perampanel Adjunctive Therapy in Intractable Epilepsy
| JOURNAL OF CLINICAL NEUROLOGY |
2018 | Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
| BMC MEDICAL GENOMICS |
2018 | Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease
| YONSEI MEDICAL JOURNAL |
2018 | Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
| JOURNAL OF CLINICAL NEUROLOGY |
2018 | Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note | JOURNAL OF INHERITED METABOLIC DISEASE |
2017 | 미토콘드리아 질환 소아 환자 보호자에서의 질환 인식 및 정서변화
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
2017 | Enteral Tube Feeding in Paediatric Mitochondrial Diseases
| SCIENTIFIC REPORTS |
2017 | Fukuyama 선천성 근이영양증에서의 분자유전학적 분석
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
2017 | Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers
| FRONTIERS IN NEUROLOGY |
2017 | Ultrastructural Changes in Skeletal Muscle of Infants with Mitochondrial Respiratory Chain Complex I Defects
| JOURNAL OF CLINICAL NEUROLOGY |
2017 | A Large Saccular Aneurysm of the Basilar Artery in a Girl With Acute Hemiparesis | PEDIATRIC NEUROLOGY |
2017 | 드라베 증후군의 SCN1A 유전자 변이 양상
| Journal of the Korean Child Neurology Society |
2017 | Protein C 결핍에서 발생한 소모성 응고질환으로 인한 뇌내출혈로 야기된 뇌성마비 환자에 대한 증례기록
| Journal of the Korean Child Neurology Society |
2017 | An 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 |
2017 | Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial Disease | PEDIATRIC NEUROLOGY |
2017 | Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental Decline
| FRONTIERS IN NEUROLOGY |
2017 | Cause of Death in Children With Mitochondrial Diseases | PEDIATRIC NEUROLOGY |
2016 | Juvenile Myasthenia Gravis in Korea: Subgroup Analysis According to Sex and Onset Age | JOURNAL OF CHILD NEUROLOGY |
2016 | Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) | PEDIATRIC NEPHROLOGY |
2016 | 미토콘드리아 호흡연쇄 복합체 결함이 동반된 난치성 소아 뇌전증에서의 Zonisamide 부가 요법 | Journal of the Korean Child Neurology Society |
2015 | 이차적 사경을 증상으로 한 척추 종양
| Journal of the Korean Child Neurology Society |
2015 | Neonatal mitochondrial respiratory chain defect and vaginal embryonal rhabdomyosarcoma : possibility of oncogenesis?
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
2015 | Leigh 증후군 환자의 임상적 생화학적 진단
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
2015 | Chronic inflammatory demyelinating polyneuropathy in children: a report of four patients with variable relapsing courses
| Korean Journal of Pediatrics |
2015 | Ophthalmological manifestations in patients with Leigh syndrome | BRITISH JOURNAL OF OPHTHALMOLOGY |
2014 | Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.
| YONSEI MEDICAL JOURNAL |
2014 | Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy.
| Korean Journal of Pediatrics |
2014 | Congenital muscular dystrophy type 1A with residual merosin expression
| Korean Journal of Pediatrics |
2014 | Epilepsy-related clinical factors and psychosocial functions in pediatric epilepsy | EPILEPSY & BEHAVIOR |
2013 | Clinical Presentations and the Bacterial Meningitis Score in Children with Cerebrospinal Fluid (CSF) Pleocytosis
| Journal of the Korean Child Neurology Society |
2013 | Seizure outcome of infantile spasms with focal cortical dysplasia | BRAIN & DEVELOPMENT |
2013 | Mitochondrial disease and epilepsy | BRAIN & DEVELOPMENT |
2012 | Epilepsy in Korean patients with Angelman syndrome
| Korean Journal of Pediatrics |
2012 | An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis
| Journal of the Korean Child Neurology Society |
2012 | Genetic and epileptic features in Rett syndrome
| YONSEI MEDICAL JOURNAL |
2012 | A multicenter trial of oxcarbazepine oral suspension monotherapy in children newly diagnosed with partial seizures: a clinical and cognitive evaluation | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
2012 | Rufinamide as an adjuvant treatment in children with Lennox-Gastaut syndrome | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
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 |
2012 | Efficacy of VeinViewer in pediatric peripheral intravenous access: a randomized controlled trial. | EUROPEAN JOURNAL OF PEDIATRICS |
2012 | Mitochondria DNA polymorphisms are associated with susceptibility to endometriosis. | DNA AND CELL BIOLOGY |
2012 | Effects of lamotrigine on cognition and behavior compared to carbamazepine as monotherapy for children with partial epilepsy. | BRAIN & DEVELOPMENT |