| 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 | 선천성 혈소판감소증을 동반한 GNE 근육병증
| Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지) |
| 2018 | FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1
| YONSEI MEDICAL JOURNAL |
| 2018 | Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis.
| YONSEI MEDICAL JOURNAL |
| 2017 | Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population | NEUROMUSCULAR DISORDERS |
| 2017 | Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy
| ANNALS OF LABORATORY MEDICINE |
| 2017 | Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders | CLINICAL GENETICS |
| 2017 | Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Distal myopathy with ADSSL1 mutations in Korean patients | NEUROMUSCULAR DISORDERS |
| 2016 | 횡문근융해증의 이해
| Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지) |
| 2016 | 전 척추옆근육위축을 동반한 몸통굽힘증
| Korean Journal of Neuromuscular Disorders (대한신경근육질환학회지) |
| 2016 | First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy
| JOURNAL OF CLINICAL NEUROLOGY |
| 2016 | Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
| YONSEI MEDICAL JOURNAL |
| 2015 | Serum interleukin-27 expression in patients with myasthenia gravis | JOURNAL OF NEUROIMMUNOLOGY |
| 2015 | Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1 | NEUROMUSCULAR DISORDERS |
| 2015 | Clinical and Genetic Characterization of Female Dystrophinopathy
| JOURNAL OF CLINICAL NEUROLOGY |
| 2015 | Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy | NEUROMUSCULAR DISORDERS |
