| 2007 | A family harboring CMT1A duplication and HNPP deletion | 최병옥 | Article |
| 2017 | A longitudinal clinicopathological study of two unrelated patients with Charcot-Marie-Tooth disease type 1E | 구혜수; 박기덕 | Letter |
| 2016 | A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy | 구혜수; 유정현 | Article |
| 2016 | ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy | 유정현; 정성철; 박형준 | Article |
| 2021 | Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis | 유정현; 이향운; 박창현; 김현진 | Article |
| 2017 | Cerebral white matter abnormalities in patients with charcot-marie-tooth disease | 유정현; 최병옥; 이향운; 홍영빈; 박창현 | Article |
| 2015 | Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families | 구혜수 | 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 |
| 2016 | DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease | 구혜수; 정성철 | Article |
| 2018 | Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A | 정성철; 박세영 | Article |
| 2016 | Genotype-phenotype correlation of Charcot-Marie-Tooth type 1E patients with PMP22 mutations | 구혜수; 박기덕 | Article |
| 2016 | Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1 | 구혜수; 유정현; 정성철 | Article |
| 2012 | Two de novo mutations of MFN2 associated with early-onset Charcot-Marie-Tooth disease type 2A neuropathy | 구혜수; 최병옥 | Article |
