| 2014 | A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients | 정성철 | Article in Press |
| 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 |
| 2013 | A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease | 구혜수; 유정현; 정성철 | Article |
| 2015 | A family with axonal sensorimotor polyneuropathy with TUBB3 mutation | 구혜수 | Article |
| 2013 | Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2 | 최경규; 구혜수; 박기덕; 최병옥 | Article |
| 2012 | Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease | 최경규; 최병옥; 김한수; 정성철 | Article |
| 2011 | Inheritance of Charcot-Marie-tooth disease 1A with rare nonrecurrent genomic rearrangement | 최병옥 | Article |
| 2010 | Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases | 최병옥 | Article |
| 2015 | Novel compound heterozygous nonsense prx mutations in a korean dejerine-sottas neuropathy family | 구혜수 | 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 |
| 2013 | Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy | 최병옥 | Article in Press |
| 2011 | Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations | 구혜수; 유정현; 최병옥 | Article |
| 2011 | Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12 | 구혜수; 최병옥 | Article |
