Choi BO - Search Results

1

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG, Kwon H, Park JH, Nam SH, Ha C, Shin S, Heo WY, Kim HJ, Chung KW, Jang JH, Kim JW, Choi BO. Kim YG, et al. Among authors: choi bo. Brain Commun. 2023 Apr 28;5(3):fcad139. doi: 10.1093/braincomms/fcad139. eCollection 2023. Brain Commun. 2023. PMID: 37180992 Free PMC article.

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

Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Kim HJ, et al. Among authors: choi bo. Am J Hum Genet. 2007 Sep;81(3):552-8. doi: 10.1086/519529. Epub 2007 Jun 29. Am J Hum Genet. 2007. PMID: 17701900 Free PMC article.

7

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

8

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.

9

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.

10

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

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