| 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 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 |
| 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 |
| 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 | Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH | 정성철 | Article |
| 2009 | Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve | 최병옥 | Article |
| 2013 | Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2 | 최경규; 구혜수; 박기덕; 최병옥 | 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 |
| 2017 | Decreased S100B expression in chronic liver diseases | 문일환; 유권; 김태헌 | Article |
| 2009 | Development of a Y-STR 12-plex PCR system and haplotype analysis in a Korean population | 최병옥 | Article |
| 2008 | Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A | 최경규; 박기덕; 유정현; 최병옥 | Article |
| 2010 | Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement | 유정현; 최병옥; 황지영; 조선영 | Article |
| 2008 | Early-onset stroke associated with a mutation in mitofusin 2 | 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 |
| 2012 | Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease | 최경규; 최병옥; 김한수; 정성철 | Article |
| 2010 | Frequency of intrahepatic FoxP3+ regulatory T cells during the natural course of chronic hepatitis B: An immunohistochemical study using needle-biopsied liver tissue | 한운섭; 구혜수; 성순희; 조민선; 이정경; 김태헌; 송동은 | Article |
| 2004 | Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion | 박기덕; 최병옥 | Article |
| 2009 | Infectious mononucleosis hepatitis in young adults: Two case reports | 유권; 정성애; 조민선; 심기남; 김태헌 | Article |
| 2011 | Inheritance of Charcot-Marie-tooth disease 1A with rare nonrecurrent genomic rearrangement | 최병옥 | Article |
| 2013 | Missense mutations of mitofusin 2 in axonal Charcot-Marie-Tooth neuropathy: Polymorphic or incomplete penetration? | 최병옥 | Article |
| 2011 | MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis | 최경규; 구혜수; 박기덕; 유정현; 최병옥 | Article |
| 2010 | Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases | 최병옥 | Article |
