Ki CS - Search Results

1

Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation.

Youn J, Kim JS, Lee M, Lee J, Roh H, Ki CS, Choa JW. Youn J, et al. Among authors: ki cs. J Clin Neurol. 2014 Jan;10(1):50-4. doi: 10.3988/jcn.2014.10.1.50. Epub 2014 Jan 6. J Clin Neurol. 2014. PMID: 24465263 Free PMC article.

2

Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.

Kim IS, Ki CS, Kim JW, Lee M, Jin DK, Lee SY. Kim IS, et al. Among authors: ki cs. J Biochem Mol Biol. 2006 Jul 31;39(4):400-5. doi: 10.5483/bmbrep.2006.39.4.400. J Biochem Mol Biol. 2006. PMID: 16889683

3

Clinical features and gene analysis in Korean patients with early-onset Parkinson disease.

Chung EJ, Ki CS, Lee WY, Kim IS, Kim JY. Chung EJ, et al. Among authors: ki cs. Arch Neurol. 2006 Aug;63(8):1170-4. doi: 10.1001/archneur.63.8.1170. Arch Neurol. 2006. PMID: 16908747 Clinical Trial.

4

Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophy.

Lee J, Lee BL, Lee M, Kim JH, Kim JW, Ki CS. Lee J, et al. Among authors: ki cs. J Neurol Sci. 2009 Jun 15;281(1-2):122-4. doi: 10.1016/j.jns.2009.02.373. Epub 2009 Mar 25. J Neurol Sci. 2009. PMID: 19324374

5

A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.

Park HD, Moon HK, Lee J, Lee M, Lee SY, Kim JW, Ki CS. Park HD, et al. Among authors: ki cs. Ann Clin Lab Sci. 2009 Spring;39(2):188-91. Ann Clin Lab Sci. 2009. PMID: 19429807

6

Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis.

Lee ST, Lee J, Lee M, Kim JW, Ki CS. Lee ST, et al. Among authors: ki cs. Muscle Nerve. 2009 Nov;40(5):855-9. doi: 10.1002/mus.21340. Muscle Nerve. 2009. PMID: 19618435

7

Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family.

Kim JM, Kim JS, Ki CS, Jeon BS. Kim JM, et al. Among authors: ki cs. J Clin Neurol. 2006 Dec;2(4):268-71. doi: 10.3988/jcn.2006.2.4.268. Epub 2006 Dec 20. J Clin Neurol. 2006. PMID: 20396531 Free PMC article.

8

Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy.

Cho A, Kim SJ, Lim BC, Hwang H, Park JD, Kim GB, Jin DK, Lee J, Ki CS, Kim KJ, Hwang YS, Chae JH. Cho A, et al. Among authors: ki cs. J Child Neurol. 2012 Mar;27(3):319-24. doi: 10.1177/0883073811420295. Epub 2011 Sep 22. J Child Neurol. 2012. PMID: 21940687

9

A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity.

Kim JS, Cho JW, Shin H, Lee WY, Ki CS, Cho AR, Kim HT. Kim JS, et al. Among authors: ki cs. Mov Disord. 2012 Feb;27(2):320-4. doi: 10.1002/mds.24033. Epub 2011 Dec 9. Mov Disord. 2012. PMID: 22162019

10

Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.

Nam SH, Kwon MJ, Lee J, Lee CG, Yu HJ, Ki CS, Lee M. Nam SH, et al. Among authors: ki cs. Ann Clin Lab Sci. 2012 Winter;42(1):65-72. Ann Clin Lab Sci. 2012. PMID: 22371912

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