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전체 논문

190

41

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
Choi YR*, Hong YB*, Jung SC*, Lee JH, Kim YJ, Park HJ, Lee J, Koo H, Lee JS, Jwa DH, Jung N, Woo SY, Kim SB, Chung KW, Choi BO
BMC Neurol, 2015

42

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
Hyun YS, Lee J, Kim HJ, Hong YB, Koo H, Smith AST, Kim DH, Choi BO, Chung KW
Ann Hum Genet, 2015

43

Ultrasonography-guided transplantation facilitates perineural delivery of stem cells.
Kim SB, Joo J, Hong YB*, Choi BO*
Animal Cell System, 2015

44

Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type 1.
Choi YR, Jung SC, Shin J, Yoo SY, Lee JS, Joo J, Lee J, Hong YB*, Choi BO*
J Genetic Medicine, 2015

45

Overexpression of mutant HSP27 causes axonal neuropathy in mice.
Lee J, Jung SC, Joo J, Choi YR, Moon HW, Kwak G, Yeo HK, Lee JS, Ahn HJ, Jung N, Hwang SH, Rheey J, Woo SY, Kim JY, Hong YB*, Choi BO*
Journal of Biomedical Science, 2015

46

Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation as Evidenced by Exome Sequencing.
Park HJ, Choi YC, Kim SM, Hong YB, Kim SH, Yoon BR, Chung KW, Choi BO
J Clin Neurol, 2015

47

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.
Choi YJ, Hyun YS, Nam SH, Hong YB, Koo H, Chung KW, Choi BO
J Clin Neurol, 2015

48

Ser135Phe mutation in HSPB1 (HSP27) from Charcot–Marie–Tooth disease type 2F families.
Kim HJ, Lee J, Hong YB, Kim YJ, Lee JH, Nam SH, Choi BO, Chung KW
Gene Genom, 2015

49

Distal Myopathy with rimmed vacuoles confirmed by whole exome sequencing.
Seo SD, Park HJ, Song HS, Kim HJ, Park JM, Hong YB, Chung KW, Choi BO
J Life Sci, 2014

50

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
Park MH, Woo HM, Hong YB, Park JH, Yoon BR, Park JM, Yoo JH, Koo H, Chae JH, Chung KW, Choi BO, Koo SK
Neurogenetics, 2014