Browsing byAuthorNakhro K.

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Showing results 1 to 8 of 8

Issue DateTitleAuthor(s)Type
2014A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients정성철Article in Press
2013A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L구혜수; 유정현; 최병옥Article
2011Compound mutations of PEO1 and TYMP in a progressive external ophthalmoplegia patient with incomplete mitochondrial neurogastrointestinal encephalomyopathy phenotype최병옥Article
2012Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease최경규; 최병옥; 김한수; 정성철Article
2013Missense mutations of mitofusin 2 in axonal Charcot-Marie-Tooth neuropathy: Polymorphic or incomplete penetration?최병옥Article
2013Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene구혜수; 박기덕; 유정현; 최병옥; 정성철Article
2013SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3김형래; 최경규; 구혜수; 유정현; 최병옥; 정성철Article
2012Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type v최병옥Article

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