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Showing results 31 to 60 of 75

Issue DateTitleAuthor(s)Type
2006DNA separation using cellulose derivatives and PEO by PDMS microchip최병옥Article
2006Early onset severe and late onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations최경규; 박기덕; 최병옥Meeting Abstract
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
2013Exome Sequencing Identifies a Novel PRPS1 Mutation and a Novel DNM2 Mutation최경규; 박기덕; 최병옥Meeting Abstract
2012Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease최경규; 최병옥; 김한수; 정성철Article
2005Familial amyloid polyneuropathy in Korea: The first case report with a proven ATTR Lys35Asn gene최병옥Article
2013Glysyl-tRNA Synthetase (GARS) Gene Mutations of Distal Hereditary Motor Neuropathy Type V Patients in Korea최경규; 박기덕; 김용재; 최병옥; 이향운Meeting Abstract
2004Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion박기덕; 최병옥Article
2003Homozygous C677T mutation in the MTHFR gene as an independent risk factor for multiple small-artery occlusions최병옥Article
2003Hyperhomocysteinemia as an independent risk factor for silent brain infarction최경규; 최병옥Article
2011Inheritance of Charcot-Marie-tooth disease 1A with rare nonrecurrent genomic rearrangement최병옥Article
2006Intracerebral hemorrhage-induced brain injury is aggravated in senescence-accelerated prone mice김원기; 최병옥Article
2013Missense mutations of mitofusin 2 in axonal Charcot-Marie-Tooth neuropathy: Polymorphic or incomplete penetration?최병옥Article
2011MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis최경규; 구혜수; 박기덕; 유정현; 최병옥Article
2010Multiplexed amino acid array utilizing bioluminescent escherichia coli auxotrophs최병옥Article
2005Mutational analysis of myelin protein zero gene in Korean families with Charcot-Marie-Tooth disease최병옥Meeting Abstract
2005Mutational analysis of neurofilarnent light chain (NEFL) gene in Korean patients with Charcot-Marie-Tooth disease박기덕; 최병옥Meeting Abstract
2004Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.최경규; 최병옥Article
2010Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases최병옥Article
2007Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMTX5)최병옥Article
2013Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease구혜수; 유정현; 최병옥Article
2007Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families최병옥Article
2010Myotonic dystrophy type i combined with X-linked dominant Charcot-Marie-Tooth neuropathy구혜수; 최병옥; 최선영Article
2008NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1최병옥Article
2013PMP22 점돌연변이를 가진 Dejerine-Sottas 증후군 환자들의 임상 다양성과 조직병리 변화김성희Master's Thesis
2008Prognosis of ocular myasthenia in Korea: A retrospective multicenter analysis of 202 patients최병옥Article
2013Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene구혜수; 박기덕; 유정현; 최병옥; 정성철Article

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