| 2006 | A complex peripheral neuropathy family harboring CMT1A duplication and HNPP deletion | 최병옥 | Meeting Abstract |
| 2007 | A family harboring CMT1A duplication and HNPP deletion | 최병옥 | Article |
| 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 |
| 2016 | Amyloid Beta-Mediated Hypomethylation of Heme Oxygenase 1 Correlates with Cognitive Impairment in Alzheimer's Disease | 정지향; 안정혁; 성혜윤; 공경애 | 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 |
| 2017 | Distal myopathy with ADSSL1 mutations in Korean patients | 박기덕; 박형준 | Article |
| 2006 | Early onset severe and late onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations | 최경규; 박기덕; 최병옥 | Meeting Abstract |
| 2013 | Exome Sequencing Identifies a Novel PRPS1 Mutation and a Novel DNM2 Mutation | 최경규; 박기덕; 최병옥 | Meeting Abstract |
| 2016 | Genotype-phenotype correlation of Charcot-Marie-Tooth type 1E patients with PMP22 mutations | 구혜수; 박기덕 | Article |
| 2013 | Glysyl-tRNA Synthetase (GARS) Gene Mutations of Distal Hereditary Motor Neuropathy Type V Patients in Korea | 최경규; 박기덕; 김용재; 최병옥; 이향운 | Meeting Abstract |
| 2016 | HDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation | 우소연; 정성철 | Article |
| 2016 | Myogenic differentiation potential of human tonsil-derived mesenchymal stem cells and their potential for use to promote skeletal muscle regeneration | 유경하; 김한수; 정성철; 조인호; 유연실; 박세영 | 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 |
| 2013 | Whole Exome Sequencing as a Diagnostic Tool for Charcot-Marie-Tooth Disease | 최병옥 | Meeting Abstract |
