Search

Current filters:
Add filters:

Results 1-10 of 15 (Search time: 0.0 seconds).

Item hits:

Issue DateTitleAuthor(s)Type
2011Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations구혜수; 유정현; 최병옥Article
2014Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy구혜수; 유정현Article
2013A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement구혜수; 유정현; 최병옥; 홍영빈Article
2013A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L구혜수; 유정현; 최병옥Article
2013Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease구혜수; 유정현; 최병옥Article
2013Erratum: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease (Nutrition and Metabolism)구혜수; 유정현; 최병옥Erratum
2016A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy구혜수; 유정현Article
2011MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis최경규; 구혜수; 박기덕; 유정현; 최병옥Article
2011A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14최경규; 구혜수; 박기덕; 유정현; 최병옥Article
2017Electron Microscopy Pathology of ADSSL1 Myopathy구혜수; 박기덕; 유정현; 한수정Letter

Discover

BROWSE