Sung DH - Search Results

1

Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.

Cho HJ, Sung DH, Kim BJ, Ki CS. Cho HJ, et al. Among authors: sung dh. Clin Genet. 2007 Mar;71(3):267-72. doi: 10.1111/j.1399-0004.2007.00763.x. Clin Genet. 2007. PMID: 17309650

2

A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.

Ki CS, Lee WY, Han DH, Sung DH, Lee KB, Lee KA, Cho SS, Cho S, Hwang H, Sohn KM, Choi YJ, Kim JW. Ki CS, et al. Among authors: sung dh. J Hum Genet. 2002;47(9):473-7. doi: 10.1007/s100380200068. J Hum Genet. 2002. PMID: 12202986

3

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.

Park SY, Ki CS, Kim HJ, Kim JW, Sung DH, Kim BJ, Lee WY. Park SY, et al. Among authors: sung dh. Arch Neurol. 2005 Jul;62(7):1118-21. doi: 10.1001/archneur.62.7.1118. Arch Neurol. 2005. PMID: 16009769

4

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: sung dh. 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

5

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

Park HK, Kim BJ, Sung DH, Ki CS, Kim JW. Park HK, et al. Among authors: sung dh. Clin Genet. 2006 Sep;70(3):253-6. doi: 10.1111/j.1399-0004.2006.00669.x. Clin Genet. 2006. PMID: 16922730 No abstract available.

6

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: sung dh. Muscle Nerve. 2007 Sep;36(3):384-6. doi: 10.1002/mus.20792. Muscle Nerve. 2007. PMID: 17486577

7

Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in the Korean population.

Kwon MJ, Lee ST, Kim BJ, Sung DH, Kim JW, Ki CS. Kwon MJ, et al. Among authors: sung dh. Ann Clin Lab Sci. 2010 Spring;40(2):156-62. Ann Clin Lab Sci. 2010. PMID: 20421627

8

Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.

Kwon MJ, Lee ST, Kim JW, Sung DH, Ki CS. Kwon MJ, et al. Among authors: sung dh. Ann Clin Lab Sci. 2010 Fall;40(4):375-9. Ann Clin Lab Sci. 2010. PMID: 20947813

9

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy.

Song JS, Kim KA, Min JH, Ki CS, Kim JW, Sung DH, Kim BJ. Song JS, et al. Among authors: sung dh. Yonsei Med J. 2015 Jul;56(4):993-7. doi: 10.3349/ymj.2015.56.4.993. Yonsei Med J. 2015. PMID: 26069122 Free PMC article.

10

Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia.

Lim JH, Kang HM, Jung HR, Kim DS, Noh KH, Chang TK, Kim BJ, Sung DH, Cho HS, Chung KS, Kim NS, Jung CR. Lim JH, et al. Among authors: sung dh. Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3221-3233. doi: 10.1016/j.bbadis.2018.07.009. Epub 2018 Jul 11. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30006150 Free article.

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