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 |
2024 | Therapeutic outcome of patients with Lennox-Gastaut syndrome with mitochondrial respiratory chain complex I deficiency
| FRONTIERS IN NEUROLOGY |
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 |
2017 | 드라베 증후군의 SCN1A 유전자 변이 양상
| Journal of the Korean Child Neurology Society |
2008 | 레녹스 가스토 증후군에서 뇌량절제술
| Journal of Korean Epilepsy Society (대한간질학회지) |
2018 | 미토콘드리아 DNA 돌연변이에 따른 Leigh 증후군의 임상 양상 분석
| Journal of the Korean Child Neurology Society |
2017 | 미토콘드리아 질환 소아 환자 보호자에서의 질환 인식 및 정서변화
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
2018 | 미토콘드리아 질환에서 웨스트 증후군 환자의 경련 발생 연령에 따른 임상 양상 비교
| Journal of the Korean Child Neurology Society |
2016 | 미토콘드리아 호흡연쇄 복합체 결함이 동반된 난치성 소아 뇌전증에서의 Zonisamide 부가 요법 | Journal of the Korean Child Neurology Society |
2005 | 사립체 질환
| Hanyang Medical Reviews |
2007 | 사립체 질환의 이해 | Journal of the Korean Child Neurology Society |
2002 | 선천성 근긴장성 이영양증 1례
| Journal of the Korean Society of Neonatology |
2005 | 소아 간질 치료에서 뇌량 전체 절제술의 결과
| Journal of Korean Epilepsy Society (대한간질학회지) |
2004 | 소아 급성 파종성 뇌척수염의 임상양상 및 치료 결과 | Journal of the Korean Child Neurology Society |
2009 | 소아 뇌갈림증의 신경영상학적 소견 및 임상 양상
| Korean Journal of Pediatrics |
2008 | 소아 만성 두통 환자에서의 Magnetic Resonance Angiography 결과 분석
| Journal of the Korean Child Neurology Society |
2009 | 소아 사립체 질환에서 시각 유발전위검사의 유용성
| Korean Journal of Pediatrics |
2008 | 소아 청소년 간질에서 토피라메이트와 관련된 인지 기능 장애
| Journal of Korean Epilepsy Society (대한간질학회지) |
2020 | 소아기 만성 난치성 질환 환아 보호자의 치료과정에서의 어려움과 정신건강 서비스에 대한 인식
| Korean Journal of Infant Mental Health (영유아아동정신건강연구) |
2010 | 수술 전 뇌 자기공명 영상에서 겉질 형성이상증 소견 보였으나 수술 후 병리학적으로 확인된 해마경화증 1례
| Korean Journal of Pediatrics |