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Showing results 46 to 75 of 75

Issue DateTitleAuthor(s)Type
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
2007Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR최병옥Article
2013Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy최병옥Article in Press
1987Rosemary R. Ruether의 여성신학에 관한 연구최병옥Master's Thesis
2013SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3김형래; 최경규; 구혜수; 유정현; 최병옥; 정성철Article
2007Thymidylate synthase (TYMS) tandem repeat polymorphism: As a predictive genetic marker for the risk of Alzheimer's disease최병옥Article
2012Tonsil-derived mesenchymal stromal cells: Evaluation of biologic, immunologic and genetic factors for successful banking정성민; 유경하; 최병옥; 우소연; 김한수; 정성철; 조인호; 최윤희; 박영미; 조경아; 박혜상Article
2012Two de novo mutations of MFN2 associated with early-onset Charcot-Marie-Tooth disease type 2A neuropathy구혜수; 최병옥Article
2005Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family김원기; 구혜수; 박기덕; 최병옥Article
2012Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type v최병옥Article
2011Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations구혜수; 유정현; 최병옥Article
2013Whole Exome Sequencing as a Diagnostic Tool for Charcot-Marie-Tooth Disease최병옥Meeting Abstract
2012Whole exome sequencing identifies N88S and a novel S90W BSCL2 mutation in Korean patients with hereditary peripheral neuropathy정화경Master's Thesis
2011Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12구혜수; 최병옥Article
2012X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans최경규; 박기덕; 최병옥; 김영화Article
2009한국인 샤르코-마리-투스 환자들의 삶의 질 향상을 위한 실태 조사신지수Master's Thesis

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