Browsing byAuthorChung K.W.

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Showing results 1 to 30 of 69

Issue DateTitleAuthor(s)Type
2014A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients정성철Article in Press
2011A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14최경규; 구혜수; 박기덕; 유정현; 최병옥Article
2013A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease구혜수; 유정현; 정성철Article
2015A family with axonal sensorimotor polyneuropathy with TUBB3 mutation구혜수Article
2021A Gravitational-wave Measurement of the Hubble Constant following the Second Observing Run of Advanced LIGO and Virgo김정리Article
2008A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease최경규; 박기덕; 최병옥Article
2011A novel Gly137Asp MPZ mutation in a Charcot-Marie-Tooth disease type 1B family최병옥Article
2013A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L구혜수; 유정현; 최병옥Article
2013A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement구혜수; 유정현; 최병옥; 홍영빈Article
2022All-sky search for gravitational wave emission from scalar boson clouds around spinning black holes in LIGO O3 data김정리Article
2021All-sky search in early O3 LIGO data for continuous gravitational-wave signals from unknown neutron stars in binary systems김정리Article
2014Application of variant-calling algorithms for Mendelian disorders: Lessons from whole-exome sequencing in charcot-marie-tooth disease정성철Letter
2018Association of miR-149 polymorphism with onset age and severity in Charcot–Marie–Tooth disease type 1A정성철Article
2017Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH정성철Article
2009Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve최병옥Article
2013Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2최경규; 구혜수; 박기덕; 최병옥Article
2017Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1박형준Article
2012Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication최경규; 박기덕; 최병옥Article
2013Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)최병옥Article
2011Compound mutations of PEO1 and TYMP in a progressive external ophthalmoplegia patient with incomplete mitochondrial neurogastrointestinal encephalomyopathy phenotype최병옥Article
2022Constraints on dark photon dark matter using data from LIGO's and Virgo's third observing run전건상Article
2023Constraints on the Cosmic Expansion History from GWTC-3김정리Article
2017Decreased S100B expression in chronic liver diseases문일환; 유권; 김태헌Article
2009Development of a Y-STR 12-plex PCR system and haplotype analysis in a Korean population최병옥Article
2008Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A최경규; 박기덕; 유정현; 최병옥Article
2021Diving below the Spin-down Limit: Constraints on Gravitational Waves from the Energetic Young Pulsar PSR J0537-6910전건상; 김정리Article
2006Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations김원기; 서정수; 최경규; 박기덕; 이정희; 최병옥; 은효원Article
2010Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement유정현; 최병옥; 황지영; 조선영Article
2008Early-onset stroke associated with a mutation in mitofusin 2유정현; 최병옥Article
2013Erratum: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease (Nutrition and Metabolism)구혜수; 유정현; 최병옥Erratum

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