| 2017 | Electron Microscopy Pathology of ADSSL1 Myopathy | 구혜수; 박기덕; 유정현; 한수정 | Letter |
| 2016 | A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy | 구혜수; 유정현 | Article |
| 2016 | Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1 | 구혜수; 유정현; 정성철 | Article |
| 2014 | Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy | 구혜수; 유정현 | Article |
| 2013 | A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement | 구혜수; 유정현; 최병옥; 홍영빈 | Article |
| 2013 | A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L | 구혜수; 유정현; 최병옥 | Article |
| 2013 | Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease | 구혜수; 유정현; 최병옥 | Article |
| 2013 | Erratum: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease (Nutrition and Metabolism) | 구혜수; 유정현; 최병옥 | Erratum |
| 2013 | SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3 | 김형래; 최경규; 구혜수; 유정현; 최병옥; 정성철 | Article |
| 2013 | Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene | 구혜수; 박기덕; 유정현; 최병옥; 정성철 | Article |
