Byung Ok Choi
Affiliation: College of Medicine
Park S, Jung N, Myung S, Choi Y, Chung K, Choi B, et al
. Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A. Int J Mol Sci. 2018;19: pubmed publisher
..These findings demonstrate that the transplantation of heterologous T-MSC-SCs induced neuromuscular regeneration in mice and suggest they could be useful for the therapeutic treatment of patients with CMT1A disease. ..
Kim S, NAM S, Kanwal S, Nam D, Yoo D, Chae J, et al
. BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease. Genes Genomics. 2018;: pubmed publisher
..We described a BAG3 mutation patient with atypical phenotype of CMT and myopathy, and those are expected to broaden the clinical spectrum of the disease and help to diagnose it. ..
NAM S, Kanwal S, Nam D, Lee M, Kang T, Jung S, et al
. Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord. 2018;28:502-507 pubmed publisher
..This study may provide the first evidence that polymorphism in the miR gene is associated with the CMT1A phenotype. ..
Nam D, Yoo D, Choi S, Choi B, Chung K. Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations. Genes Genomics. 2018;40:77-84 pubmed publisher
..We confirmed a wide inter- and intra-allelic phenotypic spectrum by the mutations in the KIF5A. ..
Choi J, Seok J, Ahn J, Ji Y, Lee K, Hong S, et al
. Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A. Sci Rep. 2018;8:10335 pubmed publisher
..Because the temporal resolution test was well correlated with the degree of demyelination in auditory and peripheral motor nerves, temporal resolution testing could be performed as an additional marker for CMT1A. ..
Lee J, Jung S, Joo J, Choi Y, Moon H, Kwak G, et al
. Overexpression of mutant HSP27 causes axonal neuropathy in mice. J Biomed Sci. 2015;22:43 pubmed publisher
..There was no additional phenotype besides motor neuronal defects. Overexpression of HSP27-S135F protein causes peripheral neuropathy. The mouse model can be applied to future development of therapeutic strategies for dHMN or CMT2F. ..
Choi Y, Hong Y, Jung S, Lee J, Kim Y, Park H, et al
. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. BMC Neurol. 2015;15:179 pubmed publisher
..This report expands the clinical spectrum of diseases caused by mutations of MPV17, and we recommend MPV17 gene screening for axonal peripheral neuropathies. ..
Jung N, Park S, Choi Y, Park J, Hong Y, Park H, et al
. Tonsil-Derived Mesenchymal Stem Cells Differentiate into a Schwann Cell Phenotype and Promote Peripheral Nerve Regeneration. Int J Mol Sci. 2016;17: pubmed
..Thus, the transplantation of human T-MSCs might be suitable for assisting in peripheral nerve regeneration. ..
Lee J, Chang E, Koo O, Jwa D, Mo W, Kwak G, et al
. Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo. Neurobiol Dis. 2017;100:99-107 pubmed publisher