| 2011 | A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14 | 최경규; 구혜수; 박기덕; 유정현; 최병옥 | Article |
| 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, pathologic, and genetic features of collagen VI-related myopathy in Korea | 박형준 | Article |
| 2012 | Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication | 최경규; 박기덕; 최병옥 | 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 | Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing | 박형준 | Article |
| 2018 | Partial conduction block as an early nerve conduction finding in neurolymphomatosis | 박기덕; 박형준 | Article |
| 2008 | Prognosis of ocular myasthenia in Korea: A retrospective multicenter analysis of 202 patients | 최병옥 | Article |
| 2008 | Serum BAFF expression in patients with myasthenia gravis | 박기덕; 이홍수 | 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 |
