2024 | Diagnostic Journey of Korean Patients with Spinal Muscular Atrophy
| YONSEI MEDICAL JOURNAL |
2024 | Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy
| ANNALS OF LABORATORY MEDICINE |
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 | Efficacy and Safety of Avalglucosidase Alfa in Patients with Late-Onset Pompe Disease after 97 Weeks: A Phase 3 Randomized Clinical Trial | JAMA 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 | 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 | Serum uric acid level predicts the progression of amyotrophic lateral sclerosis following treatment with edaravone
| REDOX REPORT |
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 | The avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients: Efficacy and safety results after 97 weeks | MOLECULAR GENETICS AND METABOLISM |
2022 | Incidence, Disability, and Mortality in Patients With Guillain-Barré Syndrome in Korea: A Nationwide Population-Based Study
| JOURNAL OF CLINICAL NEUROLOGY |
2021 | Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial | LANCET NEUROLOGY |
2021 | A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease
| JOURNAL OF CLINICAL NEUROLOGY |
2021 | Evaluating an In-House Cell-Based Assay for Detecting Antibodies Against Muscle-Specific Tyrosine Kinase in Myasthenia Gravis
| JOURNAL OF CLINICAL NEUROLOGY |
2021 | Predicting Insignificant Prostate Cancer: Analysis of the Pathological Outcomes of Candidates for Active Surveillance according to the Pre-International Society of Urological Pathology (Pre-ISUP) 2014 Era Versus the Post-ISUP2014 Era
| WORLD JOURNAL OF MENS HEALTH |
2021 | Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study
| PLOS ONE |
2021 | 진단되지 않은 근육병 환자를 대상으로 시행한 늦은 발병 폼페병의 다기관 표적집단선별검사
| Journal of the Korean Neurological Association(대한신경과학회지) |
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 | Nogo-A Is Critical for Pro-Inflammatory Gene Regulation in Myocytes and Macrophages
| CELLS |
2021 | Nogo-A regulates myogenesis via interacting with Filamin-C
| CELL DEATH DISCOVERY |
2021 | Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea
| YONSEI MEDICAL JOURNAL |
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 |
2020 | Olaparib monotherapy for Asian patients with a germline BRCA mutation and HER2-negative metastatic breast cancer: OlympiAD randomized trial subgroup analysis
| SCIENTIFIC REPORTS |
2020 | Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)
| JOURNAL OF CLINICAL NEUROLOGY |
2020 | LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant
| Annals of Clinical Neurophysiology |
2020 | Gender Differences Influence Over Insomnia in Korean Population: A Cross-Sectional Study
| PLOS ONE |
2020 | Proteomic Analysis of the Skeletal Muscles From Dysferlinopathy Patients | JOURNAL OF CLINICAL NEUROSCIENCE |
2019 | Prevalence and Socioeconomic Status of Patients with Genetic Myopathy in Korea: A Nationwide, Population-Based Study | NEUROEPIDEMIOLOGY |
2019 | Clinical and Radiographic Characteristics of Neuro-Behçet's Disease in South Korea
| JOURNAL OF CLINICAL NEUROLOGY |
2019 | Progression of GNE Myopathy Based on the Patient-Reported Outcome
| Journal of Clinical Neurology |
2019 | Unusual cortical involvement in aquaporin-4 antibody-positive patients: An analysis with double inversion recovery and phase-sensitive inversion recovery imaging | Multiple Sclerosis and Related Disorders |
2019 | Effect of thymectomy in elderly patients with non-thymomatous generalized myasthenia gravis | Journal of Neurology |
2019 | Risk of osteoporosis in patients with chronic inflammatory neuropathy- a population-based cohort st
| Scientific Reports |
2019 | 호흡곤란으로 인한 의식저하가 발생한 Tropomyosin 3 (TPM3) 유전자 돌연변이에 의한 선천근섬유형불균형 1가계
| Journal of the Korean Neurological Association (대한신경과학회지) |
2019 | Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy | NEUROMUSCULAR DISORDERS |
2019 | Neurological Manifestations of Myeloneuropathy in Patients with Nitrous Oxide Intoxication
| JOURNAL OF CLINICAL NEUROLOGY |
2018 | Henoch-Schönlein Purpura Presenting as Mononeuritis Multiplex
| JOURNAL OF CLINICAL NEUROLOGY |
2018 | Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations
| YONSEI MEDICAL JOURNAL |
2018 | Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients. | NEUROMUSCULAR DISORDERS |
2018 | Risk factors for osteoporosis in chronic inflammatory demyelinating polyradiculoneuropathy. | MUSCLE & NERVE |
2018 | 선천성 혈소판감소증을 동반한 GNE 근육병증
| Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지) |
2018 | Clinical and laboratory features of patients with osteomalacia initially presenting with neurological manifestations | OSTEOPOROSIS INTERNATIONAL |
2018 | Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia
| JOURNAL OF CLINICAL NEUROLOGY |