Lista de obras -

A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency

artículo científico publicado en 2009

A multicenter trial of oxcarbazepine oral suspension monotherapy in children newly diagnosed with partial seizures: a clinical and cognitive evaluation

artículo científico

Adverse Events During Perampanel Adjunctive Therapy in Intractable Epilepsy.

artículo científico publicado en 2018

Analysis of renal biopsies performed in children with abnormal findings in urinary mass screening

scientific article published on 01 July 2006

Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note

artículo científico publicado en 2017

Caregiver's burden and quality of life in mitochondrial disease

artículo científico publicado en 2010

Causality Assessment Guidelines for Adverse Events Following Immunization with a Focus on Guillain-Barré Syndrome

scientific article published on 24 February 2020

Cause of Death in Children With Mitochondrial Diseases

artículo científico publicado en 2016

Chronic inflammatory demyelinating polyneuropathy in children: a report of four patients with variable relapsing courses

artículo científico publicado en 2015

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

artículo científico publicado en 2020

Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseases

artículo científico publicado en 2009

Comparative trial of low- and high-dose zonisamide as monotherapy for childhood epilepsy

artículo científico

Congenital muscular dystrophy type 1A with residual merosin expression.

artículo científico publicado en 2014

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

scientific article published on 27 July 2018

Early cardiac evaluation in children with non-specific mitochondrial disease with isolated mitochondrial respiratory chain complex I defect

artículo científico publicado en 2012

Effects of cytochrome P450 (CYP)2C19 polymorphisms on pharmacokinetics of phenobarbital in neonates and infants with seizures.

artículo científico publicado en 2012

Effects of lamotrigine on cognition and behavior compared to carbamazepine as monotherapy for children with partial epilepsy

artículo científico publicado en 2012

Efficacy and tolerability of the ketogenic diet according to lipid:nonlipid ratios--comparison of 3:1 with 4:1 diet.

artículo científico publicado en 2007

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations

artículo científico publicado en 2017

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.

artículo científico publicado en 2018

Electrocardiography as an early cardiac screening test in children with mitochondrial disease

artículo científico publicado en 2010

Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).

artículo científico publicado en 2016

Epilepsy in Korean patients with Angelman syndrome

artículo científico publicado en 2012

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

artículo científico publicado en 2019

Epilepsy-related clinical factors and psychosocial functions in pediatric epilepsy

artículo científico publicado en 2014

Evaluation of renal function in children with mitochondrial respiratory chain complex defect: usefulness of cystatin C.

artículo científico publicado en 2009

Genetic and epileptic features in Rett syndrome

artículo científico publicado en 2012

Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4

scientific article published on 18 September 2020

In Reply: Death in Pediatric Mitochondrial Disorders

artículo científico publicado en 2017

Incidence of Guillain-Barré Syndrome is not Associated with Influenza Vaccination in the Elderly

artículo científico publicado en 2020

Initial experiences with proton MR spectroscopy in treatment monitoring of mitochondrial encephalopathy

artículo científico publicado en 2010

Iron deficiency in children with mitochondrial disease.

artículo científico publicado en 2010

Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation

artículo científico publicado en 2014

Juvenile Myasthenia Gravis in Korea: Subgroup Analysis According to Sex and Onset Age.

artículo científico publicado en 2016

KL1333, a Novel NAD+ Modulator, Improves Energy Metabolism and Mitochondrial Dysfunction in MELAS Fibroblasts

artículo científico publicado en 2018

Lennox-Gastaut Syndrome in Mitochondrial Disease

artículo científico publicado en 2019

Long-term Outcome of Resective Epilepsy Surgery in Patients With Lennox-Gastaut Syndrome

artículo científico publicado en 2018

Mitochondria DNA polymorphisms are associated with susceptibility to endometriosis.

artículo científico publicado en 2011

Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome

artículo científico publicado en 2020

Mitochondrial diseases

artículo científico publicado en 2012

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions

artículo científico publicado en 2008

Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease.

artículo científico publicado en 2018

Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy.

artículo científico publicado en 2014

Neurologic manifestations and treatment of Henoch-Schönlein purpura

artículo científico publicado en 2006

Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects

artículo científico publicado en 2008

Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis

artículo científico publicado en 2008

Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes

artículo científico publicado en 2007

Ophthalmological manifestations in patients with Leigh syndrome

artículo científico publicado en 2014

Prognostic factors of status epilepticus in children

artículo científico publicado en 2005

Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect.

artículo científico publicado en 2010

Rufinamide as an adjuvant treatment in children with Lennox-Gastaut syndrome

artículo científico publicado en 2012

Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects

artículo científico publicado en 2007

Seizure outcome of infantile spasms with focal cortical dysplasia ⬇️

artículo científico publicado el 16 de julio de 2013

The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS

artículo científico publicado en 2019

The Author Reply: Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions

scientific article published on 01 February 2019

The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

artículo científico publicado en 2019

Transient and Adult Patients with Neurologic Diseases in the Pediatric Emergency Department: Trends and Characteristics

artículo científico publicado en 2019

Various indications for a modified Atkins diet in intractable childhood epilepsy

artículo científico publicado en 2011

Lista de obras de

A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency

A multicenter trial of oxcarbazepine oral suspension monotherapy in children newly diagnosed with partial seizures: a clinical and cognitive evaluation

Adverse Events During Perampanel Adjunctive Therapy in Intractable Epilepsy.

Analysis of renal biopsies performed in children with abnormal findings in urinary mass screening

Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note

Caregiver's burden and quality of life in mitochondrial disease

Causality Assessment Guidelines for Adverse Events Following Immunization with a Focus on Guillain-Barré Syndrome

Cause of Death in Children With Mitochondrial Diseases

Chronic inflammatory demyelinating polyneuropathy in children: a report of four patients with variable relapsing courses

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

Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseases

Comparative trial of low- and high-dose zonisamide as monotherapy for childhood epilepsy

Congenital muscular dystrophy type 1A with residual merosin expression.

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

Early cardiac evaluation in children with non-specific mitochondrial disease with isolated mitochondrial respiratory chain complex I defect

Effects of cytochrome P450 (CYP)2C19 polymorphisms on pharmacokinetics of phenobarbital in neonates and infants with seizures.

Effects of lamotrigine on cognition and behavior compared to carbamazepine as monotherapy for children with partial epilepsy

Efficacy and tolerability of the ketogenic diet according to lipid:nonlipid ratios--comparison of 3:1 with 4:1 diet.

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.

Electrocardiography as an early cardiac screening test in children with mitochondrial disease

Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).

Epilepsy in Korean patients with Angelman syndrome

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Epilepsy-related clinical factors and psychosocial functions in pediatric epilepsy

Evaluation of renal function in children with mitochondrial respiratory chain complex defect: usefulness of cystatin C.

Genetic and epileptic features in Rett syndrome

Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4

In Reply: Death in Pediatric Mitochondrial Disorders

Incidence of Guillain-Barré Syndrome is not Associated with Influenza Vaccination in the Elderly

Initial experiences with proton MR spectroscopy in treatment monitoring of mitochondrial encephalopathy

Iron deficiency in children with mitochondrial disease.

Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation

Juvenile Myasthenia Gravis in Korea: Subgroup Analysis According to Sex and Onset Age.

KL1333, a Novel NAD+ Modulator, Improves Energy Metabolism and Mitochondrial Dysfunction in MELAS Fibroblasts

Lennox-Gastaut Syndrome in Mitochondrial Disease

Long-term Outcome of Resective Epilepsy Surgery in Patients With Lennox-Gastaut Syndrome

Mitochondria DNA polymorphisms are associated with susceptibility to endometriosis.

Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome

Mitochondrial diseases

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions

Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease.

Myocardial atrophy in children with mitochondrial disease and Duchenne muscular dystrophy.

Neurologic manifestations and treatment of Henoch-Schönlein purpura

Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects

Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis

Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes

Ophthalmological manifestations in patients with Leigh syndrome

Prognostic factors of status epilepticus in children

Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect.

Rufinamide as an adjuvant treatment in children with Lennox-Gastaut syndrome

Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects

Seizure outcome of infantile spasms with focal cortical dysplasia ⬇️

The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS

The Author Reply: Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions

The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Transient and Adult Patients with Neurologic Diseases in the Pediatric Emergency Department: Trends and Characteristics

Various indications for a modified Atkins diet in intractable childhood epilepsy