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Journal of the Peripheral Nervous System : JPNS|January 18, 2018
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease familyDa E Nam, Soo H Nam, Ah J Lee, et al.Journal of the Peripheral Nervous System : JPNS|April 23, 2014
A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosisHyung J Park, Hye J Kim, Young B Hong, et al.Journal of the Peripheral Nervous System : JPNS|January 24, 2016
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 geneMarina L Kennerson, Eun J Kim, Anna Siddell, et al.Journal of the Peripheral Nervous System : JPNS|June 23, 2011
Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutationsKi W Chung, Young S Hyun, Hae J Lee, et al.Journal of the Peripheral Nervous System : JPNS|April 28, 2017
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1Young B Hong, Jin-Mo Park, Jin S Yu, et al.Molecular Genetics & Genomic Medicine|July 11, 2020
Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangementsAh J Lee, Da E Nam, Yu J Choi, et al.American Journal of Human Genetics|March 3, 2018
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2Petra Lassuthova, Adriana P Rebelo, Gianina Ravenscroft, et al.Pageof 1