| 2024-03 |
Therapeutic outcome of patients with Lennox–Gastaut syndrome with mitochondrial respiratory chain complex I deficiency |
Frontiers in Neurology
|
| 2024-02 |
Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood |
Indian Journal of Pediatrics
|
| 2024-01 |
The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes |
Seizure : the journal of the British Epilepsy Association
|
| 2024-01 |
Effects of the coronavirus disease outbreak on the development of neurological disorders in children: A comparison of the incidence of febrile seizure and epilepsy using an interrupted time-series approach |
Journal of Infection and Public Health
|
| 2023-12 |
Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea |
Frontiers in Neurology
|
| 2023-12 |
Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea |
Yonsei Medical Journal
|
| 2023-11 |
Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome |
Journal of Clinical Neurology (Korea)
|
| 2023-10 |
Leigh Syndrome with MT-ND5 Mutation and Hypertrophic Cardiomyopathy |
Indian Journal of Pediatrics
|
| 2023-07 |
Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome |
Clinical Nutrition Research
|
| 2023-06 |
IARS2 유전자 연관 리 증후군(Leigh syndrome)여아에서 방광기능장애 증례 |
대한유전성대사질환학회지
|
| 2023-06 |
멜라스 증후군 진단에서의 혈장 아미노산과 소변 유기산 분석
|
The Korea Society of Inherited Metabolic Disease
|
| 2023-05 |
Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea |
WORLD JOURNAL OF PEDIATRICS
|
| 2023-04 |
A Patient with Doose Syndrome Who Received Low Glycemic Index Treatment |
Annals of Child Neurology
|
| 2023-01 |
Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome |
Pediatric Neurology
|
| 2022-09 |
A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease with Acute Bilateral Total Blindness |
Annals of Child Neurology
|
| 2022-09 |
A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy |
Annals of Child Neurology
|
| 2022-07 |
A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1 |
Annals of Child Neurology
|
| 2022-06 |
리증후군에서의 혈장 아미노산 및 소변 유기산 분석 |
대한 유전성 대사 질환 학회지
|
| 2022-04 |
Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction |
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
|
| 2022-04 |
Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndrome |
CLINICAL GENETICS
|
| 2022-04 |
Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome |
ACTA NEUROLOGICA SCANDINAVICA
|
| 2022-02 |
Jacobsen syndrome with bilateral periventricular white matter lesions |
WORLD JOURNAL OF PEDIATRICS
|
| 2022-01 |
High-Dose Prednisolone Therapy for Lennox-Gastaut Syndrome Caused by Fentanyl Intoxication-Induced Toxic Leukoencephalopathy |
annals of child neurology
|
| 2022-01 |
Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome |
annals of child neurology
|
| 2021-12 |
Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation |
FRONTIERS IN NEUROLOGY
|
| 2021-12 |
A female patient with Xp21 gene deletion syndrome |
대한의학유전학회지
|
| 2021-11 |
Point Prevalence and Associated Factors of Hip Displacement in Pediatric Patients With Mitochondrial Disease |
frontiers in Pediatrics
|
| 2021-07 |
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
|
| 2021-07 |
DYNC2H1 variants cause Leber congenital amaurosis without syndromic features |
CLINICAL GENETICS
|
| 2021-05 |
Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report |
Children (Basel)
|
| 2021-04 |
Epidemiological Features and Economic Burden of Guillain-Barre Syndrome in South Korea: A Nationwide Population-Based Study |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2021-03 |
Unusual Clinical Presentations in a Patient with Novel ADCK3 Variants |
annals of child neurology
|
| 2021-03 |
Toxic Leukoencephalopathy by Accidental Oral Ingestion of an Infant’s Fentanyl Patch |
annals of child neurology
|
| 2021-03 |
FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia |
annals of child neurology
|
| 2021-02 |
Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease |
EUROPEAN JOURNAL OF PEDIATRICS
|
| 2020-12 |
A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene |
대한의학유전학회지
|
| 2020-12 |
Vici Syndrome with Novel Compound Heterozygous Mutations in EPG5 |
대한 유전성 대사질환 학회지
|
| 2020-11 |
Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome |
EUROPEAN JOURNAL OF ENDOCRINOLOGY
|
| 2020-09 |
Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4 |
Children (Basel)
|
| 2020-09 |
Incidence of Guillain-Barré Syndrome Is Not Associated with Influenza Vaccination in the Elderly |
VACCINES
|
| 2020-06 |
소아기 만성 난치성 질환 환아 보호자의 치료과정에서의 어려움과 정신건강 서비스에 대한 인식 |
영유아아동정신건강연구
|
| 2020-04 |
Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome |
FRONTIERS IN NEUROLOGY
|
| 2020-02 |
Causality Assessment Guidelines for Adverse Events Following Immunization with a Focus on Guillain-Barré Syndrome |
VACCINES
|
| 2020-01 |
Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction |
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
|
| 2019-12 |
Systematic Approach for Drug Repositioning of Anti-Epileptic Drugs |
Diagnostics
|
| 2019-06 |
Magnetic resonance spectroscopy in Leigh‑MELAS overlap syndrome |
WORLD JOURNAL OF PEDIATRICS
|
| 2019-05 |
Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations |
FRONTIERS IN NEUROLOGY
|
| 2019-05 |
Focal cerebellar infarction as an initial sign of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes |
JOURNAL OF INHERITED METABOLIC DISEASE
|
| 2019-04 |
Transient and Adult Patients with Neurologic Diseases in the Pediatric Emergency Department: Trends and Characteristics |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2019-02 |
Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1 |
Korean Journal of Pediatrics
|
| 2019-01 |
The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes |
YONSEI MEDICAL JOURNAL
|
| 2019-01 |
Lennox-Gastaut Syndrome in Mitochondrial Disease |
YONSEI MEDICAL JOURNAL
|
| 2018-12 |
진행성 양측 백내장이 동반된 미토콘드리아 질환 1례 |
대한 유전성 대사질환 학회지
|
| 2018-12 |
Integrated diagnostic approach of pediatric neuromuscular disorders |
대한의학유전학회지
|
| 2018-12 |
Age-Based Characteristics of West Syndrome in Patients with Mitochondrial Disease |
Journal of the Korean Child Neurology Society(대한소아신경학회지)
|
| 2018-12 |
Ophthalmoplegia in Mitochondrial Disease |
YONSEI MEDICAL JOURNAL
|
| 2018-10 |
Long-term Outcome of Resective Epilepsy Surgery in Patients With Lennox-Gastaut Syndrome |
PEDIATRICS
|
| 2018-07 |
KL1333, a Novel NAD(+) Modulator, Improves Energy Metabolism and Mitochondrial Dysfunction in MELAS Fibroblasts |
FRONTIERS IN NEUROLOGY
|
| 2018-07 |
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
|
| 2018-07 |
Adverse Events During Perampanel Adjunctive Therapy in Intractable Epilepsy |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2018-03 |
신경질환에서 정맥주사용 면역글로불린 치료의 임상적 이용 |
Journal of the Korean Child Neurology Society(대한소아신경학회지)
|
| 2018-03 |
Leigh Syndrome: Subgroup Aanalysis according to Mitochondrial DNA Mutation |
Journal of the Korean Child Neurology Society(대한소아신경학회지)
|
| 2018-03 |
Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note |
JOURNAL OF INHERITED METABOLIC DISEASE
|
| 2018-02 |
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing |
BMC MEDICAL GENOMICS
|
| 2018-01 |
Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease |
YONSEI MEDICAL JOURNAL
|
| 2018-01 |
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2017-12 |
Enteral Tube Feeding in Paediatric Mitochondrial Diseases |
SCIENTIFIC REPORTS
|
| 2017-10 |
A Large Saccular Aneurysm of the Basilar Artery in a Girl With Acute Hemiparesis |
PEDIATRIC NEUROLOGY
|
| 2017-10 |
Ultrastructural Changes in Skeletal Muscle of Infants with Mitochondrial Respiratory Chain Complex I Defects |
JOURNAL OF CLINICAL NEUROLOGY
|
| 2017-09 |
Molecular diagnosis of myoclonus epilepsy associated with ragged-red fibers syndrome in the absence of ragged red fibers |
FRONTIERS IN NEUROLOGY
|
| 2017-08 |
Fukuyama 선천성 근이영양증에서의 분자유전학적 분석 |
대한 유전성 대사질환 학회지
|
| 2017-06 |
Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial Disease |
PEDIATRIC NEUROLOGY
|
| 2017-05 |
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
|
| 2017-05 |
Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental Decline |
FRONTIERS IN NEUROLOGY
|
| 2017-03 |
Cerebral Palsy due to Intracranial Hemorrhage Caused by Consumptive Coagulopathy in Protein C Deficiency: A Case Report |
Journal of the Korean Child Neurology Society(대한소아신경학회지)
|
| 2017-03 |
드라베 증후군의 SCN1A 유전자 변이 양상 |
Journal of the Korean Child Neurology Society(대한소아신경학회지)
|
| 2017-01 |
The Perception and Emotional Experiences of Rare and Intractable Diseases in Caregivers and Pediatric Patients with Mitochondrial diseases |
대한 유전성 대사질환 학회지
|
| 2017-01 |
Cause of Death in Children With Mitochondrial Diseases |
PEDIATRIC NEUROLOGY
|
| 2016-12 |
Juvenile Myasthenia Gravis in Korea: Subgroup Analysis According to Sex and Onset Age |
JOURNAL OF CHILD NEUROLOGY
|
| 2016-11 |
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) |
PEDIATRIC NEUROLOGY
|
| 2016-09 |
미토콘드리아 호흡연쇄 복합체 결함이 동반된 난치성 소아 뇌전증에서의 Zonisamide 부가 요법 |
Journal of the Korean Child Neurology Society(대한소아신경학회지)
|
| 2015-10 |
Clinical and Biochemical Diagnosis in Children with Leigh Syndrome |
대한 유전성 대사질환 학회지
|
| 2015-09 |
Spinal Cord Tumor Presenting as Secondary Torticollis: A Case Report |
Journal of the Korean Child Neurology Society(대한소아신경학회지)
|
| 2015-05 |
Neonatal Mitochondrial Respiratory Chain Defect and Vaginal Embryonal Rhabdomyosarcoma:Possibility of Oncogenesis? |
대한 유전성 대사질환 학회지
|
| 2015-05 |
Chronic inflammatory demyelinating polyneuropathy in children: a report of four patients with variable relapsing courses |
Korean Journal of Pediatrics
|
| 2015-04 |
Ophthalmological manifestations in patients with Leigh syndrome |
BRITISH JOURNAL OF OPHTHALMOLOGY
|
| 2014-08 |
Epilepsy-related clinical factors and psychosocial functions in pediatric epilepsy |
EPILEPSY & BEHAVIOR
|
| 2014-07 |
Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation |
YONSEI MEDICAL JOURNAL
|
| 2014-05 |
Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy |
Korean Journal of Pediatrics
|
| 2014-03 |
Congenital muscular dystrophy type 1A with residual merosin expression |
Korean Journal of Pediatrics
|
| 2013-09 |
Mitochondrial disease and epilepsy |
BRAIN & DEVELOPMENT
|
| 2013-09 |
Seizure outcome of infantile spasms with focal cortical dysplasia |
BRAIN & DEVELOPMENT
|
| 2013-06 |
Clinical Presentations and the Bacterial Meningitis Score in Children with Cerebrospinal Fluid (CSF) Pleocytosis |
Journal of the Korean Child Neurology Society(대한소아신경학회지)
|
| 2012-11 |
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
|
| 2012-11 |
Early cardiac evaluation in children with non-specific mitochondrial disease with isolated mitochondrial respiratory chain complex i defect |
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
|