Browsing "1. Journal Papers" by Author : 3263

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Showing results 80 to 139 of 149

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Issue DateTitleJournal Title
2019Magnetic resonance spectroscopy in Leigh-MELAS overlap syndromeWorld Journal of Pediatrics
2012Mitochondria DNA polymorphisms are associated with susceptibility to endometriosis.DNA AND CELL BIOLOGY
2020Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndromeEUROPEAN JOURNAL OF ENDOCRINOLOGY
2013Mitochondrial disease and epilepsyBRAIN & DEVELOPMENT
2008Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditionsEPILEPSIA
2022Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndromeCLINICAL GENETICS
2017Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers FRONTIERS IN NEUROLOGY
2014Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy. Korean Journal of Pediatrics
2018Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease YONSEI MEDICAL JOURNAL
2015Neonatal mitochondrial respiratory chain defect and vaginal embryonal rhabdomyosarcoma : possibility of oncogenesis? Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2006Neurologic manifestations and treatment of Henoch–Schönlein purpuraBRAIN & DEVELOPMENT
2008Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects.EUROPEAN RADIOLOGY
2008Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis.METABOLIC BRAIN DISEASE
2007Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypesCHILDS NERVOUS SYSTEM
2023Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea FRONTIERS IN NEUROLOGY
2023Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea YONSEI MEDICAL JOURNAL
2023Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South KoreaWORLD JOURNAL OF PEDIATRICS
2023Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome Clinical Nutrition Research
2015Ophthalmological manifestations in patients with Leigh syndromeBRITISH JOURNAL OF OPHTHALMOLOGY
2018Ophthalmoplegia in Mitochondrial Disease YONSEI MEDICAL JOURNAL
2023Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome JOURNAL OF CLINICAL NEUROLOGY
2021Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease FRONTIERS IN PEDIATRICS
2017Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial DiseasePEDIATRIC NEUROLOGY
2005Prognostic factors of status epilepticus in children YONSEI MEDICAL JOURNAL
2017Protein C 결핍에서 발생한 소모성 응고질환으로 인한 뇌내출혈로 야기된 뇌성마비 환자에 대한 증례기록 Journal of the Korean Child Neurology Society
2010Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect Korean Journal of Pediatrics
2012Rufinamide as an adjuvant treatment in children with Lennox-Gastaut syndromeSEIZURE-EUROPEAN JOURNAL OF EPILEPSY
2007Safe and Effective Use of the Ketogenic Diet in Children with Epilepsy and Mitochondrial Respiratory Chain Complex DefectsEPILEPSIA
2013Seizure outcome of infantile spasms with focal cortical dysplasiaBRAIN & DEVELOPMENT
2019Systematic Approach for Drug Repositioning of Anti-Epileptic Drugs DIAGNOSTICS
2019The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS YONSEI MEDICAL JOURNAL
2019The Author Reply: Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions YONSEI MEDICAL JOURNAL
2024The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromesSEIZURE-EUROPEAN JOURNAL OF EPILEPSY
2019The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes YONSEI MEDICAL JOURNAL
2024Therapeutic outcome of patients with Lennox-Gastaut syndrome with mitochondrial respiratory chain complex I deficiency FRONTIERS IN NEUROLOGY
2021Toxic Leukoencephalopathy by Accidental Oral Ingestion of an Infant’s Fentanyl Patch Annals of Child Neurology
2019Transient and Adult Patients with Neurologic Diseases in the Pediatric Emergency Department: Trends and Characteristics JOURNAL OF CLINICAL NEUROLOGY
2017Ultrastructural Changes in Skeletal Muscle of Infants with Mitochondrial Respiratory Chain Complex I Defects JOURNAL OF CLINICAL NEUROLOGY
2021Unusual Clinical Presentations in a Patient with Novel ADCK3 Variants Annals of Child Neurology
2022Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome Annals of Child Neurology
2012Various indications for a modified Atkins diet in intractable childhood epilepsy.BRAIN & DEVELOPMENT
2004가와사끼병 환아의 혈청 프로테옴 지도 비교 Korean Journal of Pediatrics
2006대뇌 피질 발달 기형을 동반한 난치성 소아 간질에서 케톤생성 식이요법의 효과 Korean Journal of Pediatrics
2017드라베 증후군의 SCN1A 유전자 변이 양상 Journal of the Korean Child Neurology Society
2008레녹스 가스토 증후군에서 뇌량절제술 Journal of Korean Epilepsy Society (대한간질학회지)
2018미토콘드리아 DNA 돌연변이에 따른 Leigh 증후군의 임상 양상 분석 Journal of the Korean Child Neurology Society
2017미토콘드리아 질환 소아 환자 보호자에서의 질환 인식 및 정서변화 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지)
2018미토콘드리아 질환에서 웨스트 증후군 환자의 경련 발생 연령에 따른 임상 양상 비교 Journal of the Korean Child Neurology Society
2016미토콘드리아 호흡연쇄 복합체 결함이 동반된 난치성 소아 뇌전증에서의 Zonisamide 부가 요법Journal of the Korean Child Neurology Society
2005사립체 질환 Hanyang Medical Reviews
2007사립체 질환의 이해Journal of the Korean Child Neurology Society
2002선천성 근긴장성 이영양증 1례 Journal of the Korean Society of Neonatology
2005소아 간질 치료에서 뇌량 전체 절제술의 결과 Journal of Korean Epilepsy Society (대한간질학회지)
2004소아 급성 파종성 뇌척수염의 임상양상 및 치료 결과Journal of the Korean Child Neurology Society
2009소아 뇌갈림증의 신경영상학적 소견 및 임상 양상 Korean Journal of Pediatrics
2008소아 만성 두통 환자에서의 Magnetic Resonance Angiography 결과 분석 Journal of the Korean Child Neurology Society
2009소아 사립체 질환에서 시각 유발전위검사의 유용성 Korean Journal of Pediatrics
2008소아 청소년 간질에서 토피라메이트와 관련된 인지 기능 장애 Journal of Korean Epilepsy Society (대한간질학회지)
2020소아기 만성 난치성 질환 환아 보호자의 치료과정에서의 어려움과 정신건강 서비스에 대한 인식 Korean Journal of Infant Mental Health (영유아아동정신건강연구)
2010수술 전 뇌 자기공명 영상에서 겉질 형성이상증 소견 보였으나 수술 후 병리학적으로 확인된 해마경화증 1례 Korean Journal of Pediatrics

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