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Results 1-10 of 13 (Search time: 0.0 seconds).
Item hits:
Issue Date
Title
Author(s)
Type
2012
Two de novo mutations of MFN2 associated with early-onset Charcot-Marie-Tooth disease type 2A neuropathy
구혜수; 최병옥
Article
2011
Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12
구혜수; 최병옥
Article
2010
Myotonic dystrophy type i combined with X-linked dominant Charcot-Marie-Tooth neuropathy
구혜수; 최병옥; 최선영
Article
2011
Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations
구혜수; 유정현; 최병옥
Article
2013
A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement
구혜수; 유정현; 최병옥; 홍영빈
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
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
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
2011
MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis
최경규; 구혜수; 박기덕; 유정현; 최병옥
Article
2011
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14
최경규; 구혜수; 박기덕; 유정현; 최병옥
Article
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Charcot-Marie-Tooth disease type ...
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de novo mutation
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Korean
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MFN2
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Missense mutation
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