Ki CS - Search Results

1

A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.

Kim HY, Ki CS, Kang SJ, Khang SK, Koh SH, Kim DW, Kim SH, Sung IH. Kim HY, et al. Among authors: ki cs. Muscle Nerve. 2008 Oct;38(4):1336-9. doi: 10.1002/mus.21066. Muscle Nerve. 2008. PMID: 18816602

2

Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW. Ki CS, et al. J Hum Genet. 2002;47(5):225-8. doi: 10.1007/s100380200029. J Hum Genet. 2002. PMID: 12032588

3

A novel B(var) allele (547 G>A) demonstrates differential expression depending on the co-inherited ABO allele.

Cho D, Kim SH, Ki CS, Choi KL, Cho YG, Song JW, Shin JH, Suh SP, Yazer MH, Ryang DW. Cho D, et al. Among authors: ki cs. Vox Sang. 2004 Oct;87(3):187-9. doi: 10.1111/j.1423-0410.2004.00575.x. Vox Sang. 2004. PMID: 15569071

4

Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.

Hong JS, Ki CS, Kim JW, Suh YL, Kim JS, Baek KK, Kim BJ, Ahn KJ, Kim DK. Hong JS, et al. Among authors: ki cs. J Korean Med Sci. 2005 Apr;20(2):283-90. doi: 10.3346/jkms.2005.20.2.283. J Korean Med Sci. 2005. PMID: 15832002 Free PMC article.

5

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

Kim BJ, Ki CS, Kim JW, Sung DH, Choi YC, Kim SH. Kim BJ, et al. Among authors: ki cs. J Hum Genet. 2006;51(2):137-140. doi: 10.1007/s10038-005-0338-5. Epub 2005 Dec 22. J Hum Genet. 2006. PMID: 16372135

6

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW. Cho HJ, et al. Among authors: ki cs. J Korean Med Sci. 2006 Aug;21(4):724-7. doi: 10.3346/jkms.2006.21.4.724. J Korean Med Sci. 2006. PMID: 16891820 Free PMC article.

7

Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy.

Bae JS, Ki CS, Kim JW, Kim BJ. Bae JS, et al. Among authors: ki cs. J Clin Neurosci. 2007 Jan;14(1):89-92. doi: 10.1016/j.jocn.2005.12.036. J Clin Neurosci. 2007. PMID: 17138075

8

Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family.

Kim HY, Ki CS, Koh SH, Park KH, Sunwoo IN, Kim SH. Kim HY, et al. Among authors: ki cs. Amyotroph Lateral Scler. 2007 Apr;8(2):73-8. doi: 10.1080/17482960701223154. Amyotroph Lateral Scler. 2007. PMID: 17453632

9

Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.

Cho HJ, Sung DH, Ki CS. Cho HJ, et al. Among authors: ki cs. Muscle Nerve. 2007 Sep;36(3):384-6. doi: 10.1002/mus.20792. Muscle Nerve. 2007. PMID: 17486577

10

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

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