Cho SY - Search Results

1

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: cho sy. 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

2

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: cho sy. 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.

3

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: cho sy, cho em. 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

4

Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy.

Kim HS, Chung KW, Kang SH, Choi SK, Cho SY, Koo H, Kim SB, Choi BO. Kim HS, et al. Among authors: cho sy. Neurogenetics. 2010 Oct;11(4):425-33. doi: 10.1007/s10048-010-0246-5. Epub 2010 May 5. Neurogenetics. 2010. PMID: 20443038

5

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: cho sy. 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.

6

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. Among authors: cho sy, cho em. 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.

7

Foot deformity in charcot marie tooth disease according to disease severity.

Joo SY, Choi BO, Kim DY, Jung SJ, Cho SY, Hwang SJ. Joo SY, et al. Among authors: cho sy. Ann Rehabil Med. 2011 Aug;35(4):499-506. doi: 10.5535/arm.2011.35.4.499. Epub 2011 Aug 31. Ann Rehabil Med. 2011. PMID: 22506165 Free PMC article.

8

X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation.

Cho SY, Lam CW, Tong SF, Siu WK. Cho SY, et al. Clin Chim Acta. 2013 Nov 15;426:75-8. doi: 10.1016/j.cca.2013.08.026. Epub 2013 Sep 18. Clin Chim Acta. 2013. PMID: 24055370

9

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

Law CY, Chang ST, Cho SY, Yau EK, Ng GS, Fong NC, Lam CW. Law CY, et al. Among authors: cho sy. Clin Chim Acta. 2015 Dec 7;451(Pt B):292-6. doi: 10.1016/j.cca.2015.10.011. Epub 2015 Oct 17. Clin Chim Acta. 2015. PMID: 26485252

10

Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient.

Cho SY, Siu TS, Ma O, Tam S, Lam CW. Cho SY, et al. Clin Chim Acta. 2013 Oct 21;425:125-7. doi: 10.1016/j.cca.2013.07.018. Epub 2013 Aug 1. Clin Chim Acta. 2013. PMID: 23911907

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