Choi BO - Search Results

1

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: choi kg. Hum Mutat. 2012 Nov;33(11):1610-5. doi: 10.1002/humu.22143. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22730194

2

Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion.

Kim SM, Chung KW, Choi BO, Yoon ES, Choi JY, Park KD, Sunwoo IN. Kim SM, et al. Among authors: choi bo, choi jy. Exp Mol Med. 2004 Feb 29;36(1):28-35. doi: 10.1038/emm.2004.4. Exp Mol Med. 2004. PMID: 15031668

3

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW. Choi BO, et al. Among authors: choi kg. Hum Mutat. 2004 Aug;24(2):185-6. doi: 10.1002/humu.9261. Hum Mutat. 2004. PMID: 15241803

4

Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.

Choi BO, Kim J, Suh BC, Yu JS, Sunwoo IN, Kim SJ, Kim GH, Chung KW. Choi BO, et al. J Hum Genet. 2007;52(3):280-283. doi: 10.1007/s10038-006-0100-7. Epub 2007 Jan 9. J Hum Genet. 2007. PMID: 17211524

5

Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR.

Choi BO, Kim J, Lee KL, Yu JS, Hwang JH, Chung KW. Choi BO, et al. Mol Cells. 2007 Feb 28;23(1):39-48. Mol Cells. 2007. PMID: 17464210 Free article.

6

A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.

Chung KW, Kim SM, Sunwoo IN, Cho SY, Hwang SJ, Kim J, Kang SH, Park KD, Choi KG, Choi IS, Choi BO. Chung KW, et al. Among authors: choi kg, choi bo, choi is. J Hum Genet. 2008;53(4):360-364. doi: 10.1007/s10038-008-0249-3. Epub 2008 Jan 31. J Hum Genet. 2008. PMID: 18231710

7

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.

Chung KW, Kim SB, Cho SY, Hwang SJ, Park SW, Kang SH, Kim J, Yoo JH, Choi BO. Chung KW, et al. Among authors: choi bo. Exp Mol Med. 2008 Jun 30;40(3):304-12. doi: 10.3858/emm.2008.40.3.304. Exp Mol Med. 2008. PMID: 18587268 Free PMC article.

8

A MELAS syndrome family harboring two mutations in mitochondrial genome.

Choi BO, Hwang JH, Kim J, Cho EM, Cho SY, Hwang SJ, Lee HW, Kim SJ, Chung KW. Choi BO, et al. Exp Mol Med. 2008 Jun 30;40(3):354-60. doi: 10.3858/emm.2008.40.3.354. Exp Mol Med. 2008. PMID: 18587274 Free PMC article.

9

NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.

Shin JS, Chung KW, Cho SY, Yun J, Hwang SJ, Kang SH, Cho EM, Kim SM, Choi BO. Shin JS, et al. Among authors: choi bo. J Hum Genet. 2008;53(10):936-940. doi: 10.1007/s10038-008-0333-8. Epub 2008 Aug 29. J Hum Genet. 2008. PMID: 18758688

10

A Family Harboring CMT1A Duplication and HNPP Deletion.

Lee JH, Kang HJ, Song H, Hwang SJ, Cho SY, Kim SB, Kim J, Chung KW, Choi BO. Lee JH, et al. Among authors: choi bo. J Clin Neurol. 2007 Jun;3(2):101-4. doi: 10.3988/jcn.2007.3.2.101. Epub 2007 Jun 20. J Clin Neurol. 2007. PMID: 19513300 Free PMC article.

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