Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.
Hwang SH, Kim EJ, Hong YB, Joo J, Kim SM, Nam SH, Hong HD, Kim SH, Oh K, Lim JG, Cho JH, Chung KW, Choi BO
Mol Med Rep, 2016
32
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
Lee J, Jung SC, Hong YB, Yoo JH, Koo H, Lee JH, Hong HD, Kim SB, Chung KW, Choi BO
Mol Med Rep, 2016
33
Genotype–phenotype correlation of Charcot-Marie-Tooth type 1E patients with PMP22 mutations.
Kim JY, Koo H, Park KD, Choi SS, Yu JS, Hong YB, Chung KW, Choi BO
Genes Genom, 2016
34
Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.
Nam SH, Hong YB, Hyun YS, Nam DE, Kwak G, Hwang SH, Choi BO, Chung KW
Mol Cells, 2016
35
Clinico-gentics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
Hyun YS, Hong YB, Choi BO, Chung KW
Brain, 2016
36
DGAT2 Mutation in a Family with Autosomal Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
Hong YB, Kang J, Kim JH, Lee J, Kwak G, Hyun YS, Nam SH, Hong HD, Choi YR, Jung SC, Koo H, Lee JE, Choi BO, Chung KW
Hum Mutat, 2016
37
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.
Kennerson ML, Kim EJ, Siddell A, Kidambi A, Kim SM, Hong YB, Hwang SH, Chung KW, Choi BO
J Peripher Nerv Syst, 2016
38
A mutation in PMP2 causes dominant demyelinating Charcot-Marie-Tooth neuropathy.
Hong YB, Joo J, Hyun YS, Kwak G, Choi YR, Yeo HK, Jwa DH, Kim EJ, Mo WM, Nam SH, Kim SM, Yoo JH, Koo H, Park HT, Chung KW, Choi BO
PLoS Genet, 2016
39
Farnesol ameliorates demyelinating phenotype of CMT1A
40
ADSSL1 mutation relevant to autosomal recessive adolescent-onset distal myopathy.
Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, L JS, Mo WM, Ki SM. Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO