| 2024 | Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America
| ORPHANET JOURNAL OF RARE DISEASES |
| 2024 | Validation and proposal of case definitions for identifying patients with myasthenia gravis | CURRENT MEDICAL RESEARCH AND OPINION |
| 2024 | Diagnostic Journey of Korean Patients with Spinal Muscular Atrophy
| YONSEI MEDICAL JOURNAL |
| 2024 | Association Between Initial Corticosteroid Regimen and Treatment Response Time in Acetylcholine Receptor Antibody–Positive Myasthenia Gravis | ACTA NEUROLOGICA SCANDINAVICA |
| 2024 | Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy
| ANNALS OF LABORATORY MEDICINE |
| 2024 | Comparing Diagnostic Accuracy of Radiologists versus GPT-4V and Gemini Pro Vision Using Image Inputs from Diagnosis Please Cases | RADIOLOGY |
| 2024 | Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity
| INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
| 2024 | Impact of COVID-19 Infection and Its Association With Previous Vaccination in Patients With Myasthenia Gravis in Korea: A Multicenter Retrospective Study
| JOURNAL OF KOREAN MEDICAL SCIENCE |
| 2024 | Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases
| SCIENTIFIC REPORTS |
| 2024 | Germinal centers are associated with postthymectomy myasthenia gravis in patients with thymoma | EUROPEAN JOURNAL OF NEUROLOGY |
| 2023 | Transcriptome analysis of skeletal muscle in dermatomyositis, polymyositis, and dysferlinopathy, using a bioinformatics approach
| FRONTIERS IN NEUROLOGY |
| 2023 | Clinical and Radiological Features of Korean Patients With Anti-HMGCR Myopathy
| JOURNAL OF CLINICAL NEUROLOGY |
| 2023 | Novel Pathogenic Variant in PIEZO2 in a Korean Patient with Distal Arthrogryposis
| Journal of Electrodiagnosis and Neuromuscular Diseases |
| 2023 | Clinical significance of anti-NT5c1A autoantibody in Korean patients with inflammatory myopathies
| PLOS ONE |
| 2023 | Clinical pitfalls and serological diagnostics of MuSK myasthenia gravis
| JOURNAL OF NEUROLOGY |
| 2023 | Anti-titin antibodies are associated with myocarditis in patients with myasthenia gravis | JOURNAL OF NEUROLOGY |
| 2023 | Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy
| MEDICINE |
| 2022 | Validation of the Individualized Neuromuscular Quality of Life Questionnaire in Korean Patients With Genetic Neuromuscular Diseases
| JOURNAL OF CLINICAL NEUROLOGY |
| 2022 | Clinical and Pathological Findings of Korean Patients with Selenoprotein N-Related Myopathy
| Journal of the Korean Association of EMG-Electrodiagnostic Medicine |
| 2022 | Incidence, Disability, and Mortality in Patients With Guillain-Barré Syndrome in Korea: A Nationwide Population-Based Study
| JOURNAL OF CLINICAL NEUROLOGY |
| 2021 | A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease
| JOURNAL OF CLINICAL NEUROLOGY |
| 2021 | Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study
| PLOS ONE |
| 2021 | Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis
| YONSEI MEDICAL JOURNAL |
| 2021 | 근육병 환자의 평가를 위한 임상 척도
| Journal of the Korean Neurological Association(대한신경과학회지) |
| 2021 | Null variants in DYSF result in earlier symptom onset | CLINICAL GENETICS |
| 2021 | Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea
| YONSEI MEDICAL JOURNAL |
| 2020 | Ultrasonography Findings in Hereditary Neuropathy with Liability to Pressure Palsies Due to Single-Nucleotide Substitution
| JOURNAL OF CLINICAL NEUROLOGY |
| 2020 | First Case of TARDBP-Related Amyotrophic Lateral Sclerosis in Korea
| JOURNAL OF CLINICAL NEUROLOGY |
| 2020 | Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based Study | NEUROEPIDEMIOLOGY |
| 2019 | Prevalence and Socioeconomic Status of Patients with Genetic Myopathy in Korea: A Nationwide, Population-Based Study | NEUROEPIDEMIOLOGY |
| 2016 | Spinal cord involvement in Behçet’s disease | MULTIPLE SCLEROSIS JOURNAL |
| 2014 | Congenital muscular dystrophy type 1A with residual merosin expression
| Korean Journal of Pediatrics |
| 2014 | Clinical and Electrophysiologic Responses to Acetylcholinesterase Inhibitors in MuSK-Antibody-Positive Myasthenia Gravis: Evidence for Cholinergic Neuromuscular Hyperactivity
| JOURNAL OF CLINICAL NEUROLOGY |
| 2014 | Whole-Genome Analysis in Korean Patients with Autoimmune Myasthenia Gravis
| YONSEI MEDICAL JOURNAL |
| 2014 | 특이 전기생리결과를 보인 X연관샤르코-마리-투스병1형
| Journal of the Korean Neurological Association |
| 2014 | Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy
| YONSEI MEDICAL JOURNAL |
| 2013 | 중증근무력증과 병발한 시신경척수염범주질환 2예
| Journal of Multiple Sclerosis (대한다발성경화증학회지) |
| 2013 | 중추신경계 탈수초질환으로 오인된 림프종 3예
| Journal of Multiple Sclerosis (대한다발성경화증학회지) |
| 2013 | Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy
| YONSEI MEDICAL JOURNAL |
| 2013 | Clinical and electromyographic features of radiation-induced lower cranial neuropathy | CLINICAL NEUROPHYSIOLOGY |
| 2012 | Duchenne 근디스트로피의 치료에 대한 고찰
| Journal of the Korean Neurological Association |
| 2012 | The expression of BAFF in the muscles of patients with dermatomyositis | JOURNAL OF NEUROIMMUNOLOGY |
| 2012 | Heterogeneous characteristics of Korean patients with dysferlinopathy
| JOURNAL OF KOREAN MEDICAL SCIENCE |
