| 2016 | ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy | 유정현; 정성철; 박형준 | Article |
| 2017 | Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene | 박기덕 | Letter |
| 2016 | Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations | 박기덕; 박형준 | Article |
| 2019 | Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy | 박기덕; 이정환 | Article |
| 2012 | Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication (vol 8, pg 139, 2012) | 최경규; 박기덕; 최병옥; 김영화 | Correction |
| 2017 | Distal myopathy with ADSSL1 mutations in Korean patients | 박기덕; 박형준 | Article |
| 2017 | Electron Microscopy Pathology of ADSSL1 Myopathy | 구혜수; 박기덕; 유정현; 한수정 | Letter |
| 2018 | FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1 | 박기덕 | Article |
| 2015 | Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumetal muscular dystrophy type 1 | 박형준 | Article |
| 2018 | Neuromyopathy caused by long term colchicine therapy | 박기덕; 한수정 | Article |
| 2018 | Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia | 이지은 | Letter |
| 2019 | Prevalence and Socioeconomic Status of Patients with Genetic Myopathy in Korea: A Nationwide, Population-Based Study | 이정환 | Article |
| 2020 | Proteomic analysis of the skeletal muscles from dysferlinopathy patients | 박기덕 | Article |
| 2016 | Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V | 구혜수; 박기덕; 이지은; 박형준 | Letter |
| 2015 | Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy | 박형준 | Article |
| 2017 | Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population | 박형준 | Article |
| 2014 | The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report | 박형준 | Article |
| 2006 | Tissue transglutaminase autoantibodies in patients with Myasthenia Gravis | 박기덕 | Meeting Abstract |
