| 2014 | Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy | 박형준 | Article |
| 2018 | Clinical and pathologic findings of korean patients with ryr1-related congenital myopathy | 박형준 | Article |
| 2017 | Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1 | 박형준 | Article |
| 2017 | Clinical, pathologic, and genetic features of collagen VI-related myopathy in Korea | 박형준 | Article |
| 2017 | Distal myopathy with ADSSL1 mutations in Korean patients | 박기덕; 박형준 | Article |
| 2017 | Early-onset LMNA-associated muscular dystrophy with later involvement of contracture | 박형준 | Article |
| 2016 | First identification of compound heterozygous FKRP mutations in a Korean patient with limb-girdle muscular dystrophy | 박형준 | Letter |
| 2015 | Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumetal muscular dystrophy type 1 | 박형준 | Article |
| 2015 | Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing | 박형준 | Article |
| 2018 | Myasthenia gravis seronegative for acetylcholine receptor antibodies in South Korea: Autoantibody profiles and clinical features | 박형준 | Article |
| 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 role of insulin resistance in diabetic neuropathy in Koreans with type 2 diabetes mellitus: A 6-year follow-up study | 박형준 | Article |
| 2014 | The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report | 박형준 | Article |
