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Showing results 1 to 8 of 8

Issue Date	Title	Author(s)	Type
2013	A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease	구혜수; 유정현; 정성철	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	Erratum: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease (Nutrition and Metabolism)	구혜수; 유정현; 최병옥	Erratum
2015	Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing	박형준	Article
2013	Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease	구혜수; 유정현; 최병옥	Article
2013	Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy	최병옥	Article in Press
2014	Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy	구혜수; 유정현	Article
2013	SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3	김형래; 최경규; 구혜수; 유정현; 최병옥; 정성철	Article

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