Nam SH - Search Results

1

Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase.

Chung HY, Lee GS, Nam SH, Lee JH, Han JP, Song S, Kim GD, Jung C, Hyeon DY, Hwang D, Choi BO, Yeom SC. Chung HY, et al. Among authors: nam sh. Brain. 2024 Jan 16:awae017. doi: 10.1093/brain/awae017. Online ahead of print. Brain. 2024. PMID: 38227798

2

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.

Nakhro K, Park JM, Hong YB, Park JH, Nam SH, Yoon BR, Yoo JH, Koo H, Jung SC, Kim HL, Kim JY, Choi KG, Choi BO, Chung KW. Nakhro K, et al. Among authors: nam sh. Neurology. 2013 Jul 9;81(2):165-73. doi: 10.1212/WNL.0b013e31829a3421. Epub 2013 Jun 7. Neurology. 2013. PMID: 23749797

3

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

Suh BC, Hong YB, Nakhro K, Nam SH, Chung KW, Choi BO. Suh BC, et al. Among authors: nam sh. Mol Med Rep. 2014 Feb;9(2):481-6. doi: 10.3892/mmr.2013.1808. Epub 2013 Nov 18. Mol Med Rep. 2014. PMID: 24247255

4

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

Park J, Hyun YS, Kim YJ, Nam SH, Kim SH, Hong YB, Park JM, Chung KW, Choi BO. Park J, et al. Among authors: nam sh. J Clin Neurol. 2013 Oct;9(4):283-8. doi: 10.3988/jcn.2013.9.4.283. Epub 2013 Oct 31. J Clin Neurol. 2013. PMID: 24285972 Free PMC article.

5

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

Park HJ, Kim HJ, Hong YB, Nam SH, Chung KW, Choi BO. Park HJ, et al. Among authors: nam sh. J Peripher Nerv Syst. 2014 Jun;19(2):175-9. doi: 10.1111/jns5.12062. J Peripher Nerv Syst. 2014. PMID: 24750328

6

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.

Choi YJ, Hyun YS, Nam SH, Koo H, Hong YB, Chung KW, Choi BO. Choi YJ, et al. Among authors: nam sh. J Clin Neurol. 2015 Jan;11(1):92-6. doi: 10.3988/jcn.2015.11.1.92. Epub 2014 Nov 11. J Clin Neurol. 2015. PMID: 25628743 Free PMC article.

7

DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.

Hong YB, Kang J, Kim JH, Lee J, Kwak G, Hyun YS, Nam SH, Hong HD, Choi YR, Jung SC, Koo H, Lee JE, Choi BO, Chung KW. Hong YB, et al. Among authors: nam sh. Hum Mutat. 2016 May;37(5):473-80. doi: 10.1002/humu.22959. Epub 2016 Feb 9. Hum Mutat. 2016. PMID: 26786738

8

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.

Hong YB, Joo J, Hyun YS, Kwak G, Choi YR, Yeo HK, Jwa DH, Kim EJ, Mo WM, Nam SH, Kim SM, Yoo JH, Koo H, Park HT, Chung KW, Choi BO. Hong YB, et al. Among authors: nam sh. PLoS Genet. 2016 Feb 1;12(2):e1005829. doi: 10.1371/journal.pgen.1005829. eCollection 2016 Feb. PLoS Genet. 2016. PMID: 26828946 Free PMC article.

9

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.

Nam SH, Hong YB, Hyun YS, Nam da E, Kwak G, Hwang SH, Choi BO, Chung KW. Nam SH, et al. Among authors: nam da e. Mol Cells. 2016 May 31;39(5):382-8. doi: 10.14348/molcells.2016.2288. Epub 2016 Mar 30. Mol Cells. 2016. PMID: 27025386 Free PMC article.

10

Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.

Hwang SH, Kim EJ, Hong YB, Joo J, Kim SM, Nam SH, Hong HD, Kim SH, Oh K, Lim JG, Cho JH, Chung KW, Choi BO. Hwang SH, et al. Among authors: nam sh. Mol Med Rep. 2016 Oct;14(4):3362-8. doi: 10.3892/mmr.2016.5664. Epub 2016 Aug 22. Mol Med Rep. 2016. PMID: 27573046

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