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Genotype‐phenotype analysis of MT‐ATP6‐associated Leigh syndrome

Acta neurologica Scandinavica, 2022-04, Vol.145 (4), p.414-422

2022

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Mitochondrial tRNAHis mutation (m.12158A > G) associated with MELAS syndrome

Clinical genetics, 2022-04, Vol.101 (4), p.474-475

2022

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Therapeutic outcome of patients with Lennox-Gastaut syndrome with mitochondrial respiratory chain complex I deficiency

Frontiers in neurology, 2024-03, Vol.15, p.1305404-1305404

2024

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Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy

Brain & development (Tokyo. 1979), 2020-06, Vol.42 (6), p.438-448

2020

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Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome

European journal of endocrinology, 2020-11, Vol.183 (5), p.505-512

2020

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Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction

Therapeutic advances in neurological disorders, 2022-04, Vol.15, p.17562864221092551-17562864221092551

2022

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Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction

Therapeutic advances in neurological disorders, 2020, Vol.13, p.1756286419897813-1756286419897813

2020

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Treatment strategies for Lennox-Gastaut syndrome: outcomes of multimodal treatment approaches

Therapeutic advances in neurological disorders, 2022, Vol.15, p.17562864221108012-17562864221108012

2022

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Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea

World journal of pediatrics : WJP, 2023-05, Vol.19 (5), p.450-459

2023

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Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Frontiers in neurology, 2019-05, Vol.10, p.496-496

2019

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Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease

European journal of pediatrics, 2021-02, Vol.180 (2), p.425-432

2021

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Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome

Frontiers in neurology, 2020-04, Vol.11, p.267-267

2020

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Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation

Frontiers in neurology, 2021-12, Vol.12, p.752467-752467

2021

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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, 2024-01, Vol.17 (1), p.102-108

2024

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Jacobsen syndrome with bilateral periventricular white matter lesions

World journal of pediatrics : WJP, 2022-02, Vol.18 (2), p.142-143

2022

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Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1

Korean journal of pediatrics, 2019-02, Vol.62 (2), p.55-61

2019

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A case of exacerbated encephalopathy with stroke-like episodes and lactic acidosis triggered by metformin in a patient with MELAS

Neurological sciences, 2024-05, Vol.45 (5), p.2337-2339

2024

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Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome

Pediatric neurology, 2023-01, Vol.138, p.27-32

2023

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Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood

Indian journal of pediatrics, 2024-02, Vol.91 (2), p.197-197

2024

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The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes

Seizure (London, England), 2024-01, Vol.114, p.53-56

2024

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Leigh Syndrome with MT-ND5 Mutation and Hypertrophic Cardiomyopathy

Indian journal of pediatrics, 2023-10, Vol.90 (10), p.1054-1054

2023

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Efficacy and prognosis of long-term, high-dose steroid therapy for Lennox–Gastaut syndrome

Epilepsy research, 2022-01, Vol.179, p.106847-106847, Article 106847

2022

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Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea

Yonsei medical journal, 2023-12, Vol.64 (12), p.705-711

2023

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Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome

Journal of Clinical Neurology, 2023, 19(6), , pp.612-614

2023

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Utilization of Coronary Artery to Aorta for the Early Detection of Kawasaki Disease

Pediatric cardiology, 2019-03, Vol.40 (3), p.461-467

2019

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Genotype‐phenotype analysis of MT‐ATP6‐associated Leigh syndrome

Mitochondrial tRNAHis mutation (m.12158A > G) associated with MELAS syndrome

Therapeutic outcome of patients with Lennox-Gastaut syndrome with mitochondrial respiratory chain complex I deficiency

Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy

Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome

Effective application of corpus callosotomy in pediatric intractable epilepsy patients with mitochondrial dysfunction

Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction

Treatment strategies for Lennox-Gastaut syndrome: outcomes of multimodal treatment approaches

Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Central precocious puberty may be a manifestation of endocrine dysfunction in pediatric patients with mitochondrial disease

Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome

Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation

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

Jacobsen syndrome with bilateral periventricular white matter lesions

Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1

A case of exacerbated encephalopathy with stroke-like episodes and lactic acidosis triggered by metformin in a patient with MELAS

Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome

Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood

The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes

Leigh Syndrome with MT-ND5 Mutation and Hypertrophic Cardiomyopathy

Efficacy and prognosis of long-term, high-dose steroid therapy for Lennox–Gastaut syndrome

Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea

Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome

Utilization of Coronary Artery to Aorta for the Early Detection of Kawasaki Disease

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