| 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 |
| 2008 | A MELAS syndrome family harboring two mutations in mitochondrial genome | 최병옥; 이향운 | Article |
| 2008 | A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease | 최경규; 박기덕; 최병옥 | Article |
| 2011 | A novel Gly137Asp MPZ mutation in a Charcot-Marie-Tooth disease type 1B family | 최병옥 | Article |
| 2020 | A novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot–Marie–Tooth disease type 1A | 정성철; 박세영 | 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 | A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement | 구혜수; 유정현; 최병옥; 홍영빈 | Article |
| 2012 | A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: Clinical, neuroimaging, and neuropathological findings | 최병옥 | Article |
| 2009 | Aging exacerbates intracerebral hemorrhage-induced brain injury | 최병옥 | Article |
| 2014 | Application of variant-calling algorithms for Mendelian disorders: Lessons from whole-exome sequencing in charcot-marie-tooth disease | 정성철 | Letter |
| 2018 | Association of miR-149 polymorphism with onset age and severity in Charcot–Marie–Tooth disease type 1A | 정성철 | Article |
| 2017 | Autophagy induction in the skeletal myogenic differentiation of human tonsil-derived mesenchymal stem cells | 정성철; 조인호; 안정혁; 유연실; 박세영 | Article |
| 2017 | Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH | 정성철 | Article |
| 2011 | Cell-based quantification of homocysteine utilizing bioluminescent Escherichia coli auxotrophs | 최병옥 | Article |
| 2009 | Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve | 최병옥 | Article |
| 2005 | Ciclopirox protects mitochondria from hydrogen peroxide toxicity | 김원기; 김희선; 최병옥 | Article |
| 1999 | Clinical Analysis of 12 Korean Lambert-Eaton Myasthenic Syndrome (LEMS) Patients | 박기덕 | Article |
| 2014 | Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia | 정지향 | Article |
| 2014 | Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy | 박형준 | Article |
| 2013 | Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2 | 최경규; 구혜수; 박기덕; 최병옥 | Article |
| 2017 | Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1 | 박형준 | Article |
| 2010 | Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica | 최병옥; 조인호 | Article |
| 2012 | Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication | 최경규; 박기덕; 최병옥 | Article |
| 2013 | Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) | 최병옥 | Article |
| 2011 | Compound mutations of PEO1 and TYMP in a progressive external ophthalmoplegia patient with incomplete mitochondrial neurogastrointestinal encephalomyopathy phenotype | 최병옥 | Article |
| 2008 | Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation | 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 |
