Results 1-6 of 6 (Search time: 0.0 seconds).
Issue Date | Title | Author(s) | Type |
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2016 | Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1 | 구혜수; 유정현; 정성철 | Article |
2013 | SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3 | 김형래; 최경규; 구혜수; 유정현; 최병옥; 정성철 | Article |
2016 | DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease | 구혜수; 정성철 | Article |
2013 | Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene | 구혜수; 박기덕; 유정현; 최병옥; 정성철 | Article |
2013 | A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease | 구혜수; 유정현; 정성철 | Article |
2015 | A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy | 구혜수; 우소연; 정성철; 박형준 | Article |