Hyun YS - Search Results

1

MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.

Choi BO, Kim SB, Kanwal S, Hyun YS, Park SW, Koo H, Yoo JH, Hyun JW, Park KD, Choi KG, Chung KW. Choi BO, et al. Among authors: hyun ys, hyun jw. Int J Mol Med. 2011 Sep;28(3):389-96. doi: 10.3892/ijmm.2011.678. Epub 2011 Apr 18. Int J Mol Med. 2011. PMID: 21503568

2

Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.

Choi BO, Park MH, Chung KW, Woo HM, Koo H, Chung HK, Choi KG, Park KD, Lee HJ, Hyun YS, Koo SK. Choi BO, et al. Among authors: hyun ys. Neurogenetics. 2013 Feb;14(1):35-42. doi: 10.1007/s10048-012-0346-5. Epub 2012 Nov 10. Neurogenetics. 2013. PMID: 23142943

3

Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases.

Choi BO, Hwang JH, Cho EM, Jeong EH, Hyun YS, Jeon HJ, Seong KM, Cho NS, Chung KW. Choi BO, et al. Among authors: hyun ys. Exp Mol Med. 2010 Jun 30;42(6):446-55. doi: 10.3858/emm.2010.42.6.046. Exp Mol Med. 2010. PMID: 20440095 Free PMC article.

4

Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement.

Choi BO, Kim NK, Park SW, Hyun YS, Jeon HJ, Hwang JH, Chung KW. Choi BO, et al. Among authors: hyun ys. Neurogenetics. 2011 Feb;12(1):51-8. doi: 10.1007/s10048-010-0272-3. Epub 2010 Dec 31. Neurogenetics. 2011. PMID: 21193943

5

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.

Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Züchner S, Chung KW. Choi BO, et al. Among authors: hyun ys. Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7. Hum Mutat. 2011. PMID: 21480433 Free PMC article.

6

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

Choi BO, Koo SK, Park MH, Rhee H, Yang SJ, Choi KG, Jung SC, Kim HS, Hyun YS, Nakhro K, Lee HJ, Woo HM, Chung KW. Choi BO, et al. Among authors: hyun ys. Hum Mutat. 2012 Nov;33(11):1610-5. doi: 10.1002/humu.22143. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22730194

7

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.

Hong YB, Lee JH, Park JM, Choi YR, Hyun YS, Yoon BR, Yoo JH, Koo H, Jung SC, Chung KW, Choi BO. Hong YB, et al. Among authors: hyun ys. BMC Med Genet. 2013 Dec 5;14:125. doi: 10.1186/1471-2350-14-125. BMC Med Genet. 2013. PMID: 24314034 Free PMC article.

8

A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

Hong YB, Lee JH, Park HJ, Choi YR, Hyun YS, Park JH, Koo H, Chung KW, Choi BO. Hong YB, et al. Among authors: hyun ys. Mol Med Rep. 2015 Apr;11(4):2729-34. doi: 10.3892/mmr.2014.3047. Epub 2014 Dec 4. Mol Med Rep. 2015. PMID: 25482575

9

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 AS, Kim DH, Choi BO, Chung KW. Hyun YS, et al. Ann Hum Genet. 2015 Nov;79(6):460-9. doi: 10.1111/ahg.12134. Epub 2015 Sep 24. Ann Hum Genet. 2015. PMID: 26400421

10

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. Hong YB, et al. Among authors: hyun ys. Hum Mutat. 2016 May;37(5):473-80. doi: 10.1002/humu.22959. Epub 2016 Feb 9. Hum Mutat. 2016. PMID: 26786738

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