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 |
2021 | A Gravitational-wave Measurement of the Hubble Constant following the Second Observing Run of Advanced LIGO and Virgo | 김정리 | 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 |
2022 | All-sky search for gravitational wave emission from scalar boson clouds around spinning black holes in LIGO O3 data | 김정리 | Article |
2021 | All-sky search in early O3 LIGO data for continuous gravitational-wave signals from unknown neutron stars in binary systems | 김정리 | 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 |
2017 | Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1 | 박형준 | 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 |
2022 | Constraints on dark photon dark matter using data from LIGO's and Virgo's third observing run | 전건상 | Article |
2023 | Constraints on the Cosmic Expansion History from GWTC-3 | 김정리 | 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 |
2021 | Diving below the Spin-down Limit: Constraints on Gravitational Waves from the Energetic Young Pulsar PSR J0537-6910 | 전건상; 김정리 | Article |
2006 | Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations | 김원기; 서정수; 최경규; 박기덕; 이정희; 최병옥; 은효원 | 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 |