Nam DE - Search Results

1

Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.

Nam DE, Jung SC, Yoo DH, Choi SS, Seo SY, Kim GH, Kim SJ, Nam SH, Choi BO, Chung KW. Nam DE, et al. Among authors: nam sh. J Peripher Nerv Syst. 2017 Sep;22(3):200-207. doi: 10.1111/jns.12223. J Peripher Nerv Syst. 2017. PMID: 28544463

2

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. 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.

3

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.

Hong YB, Park JM, Yu JS, Yoo DH, Nam DE, Park HJ, Lee JS, Hwang SH, Chung KW, Choi BO. Hong YB, et al. Among authors: nam de. J Peripher Nerv Syst. 2017 Sep;22(3):172-181. doi: 10.1111/jns.12217. J Peripher Nerv Syst. 2017. PMID: 28448691

4

Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome.

Yoo DH, Choi YC, Nam DE, Choi SS, Kim JW, Choi BO, Chung KW. Yoo DH, et al. Among authors: nam de. Mitochondrion. 2017 Jul;35:54-58. doi: 10.1016/j.mito.2017.05.005. Epub 2017 May 9. Mitochondrion. 2017. PMID: 28499982

5

Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family.

Nam DE, Nam SH, Lee AJ, Hong YB, Choi BO, Chung KW. Nam DE, et al. Among authors: nam sh. J Peripher Nerv Syst. 2018 Mar;23(1):60-66. doi: 10.1111/jns.12249. Epub 2018 Feb 6. J Peripher Nerv Syst. 2018. PMID: 29341343

6

Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A.

Nam SH, Kanwal S, Nam DE, Lee MH, Kang TH, Jung SC, Choi BO, Chung KW. Nam SH, et al. Among authors: nam de. Neuromuscul Disord. 2018 Jun;28(6):502-507. doi: 10.1016/j.nmd.2018.04.002. Epub 2018 Apr 11. Neuromuscul Disord. 2018. PMID: 29729827

7

Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations.

Nam DE, Yoo DH, Choi SS, Choi BO, Chung KW. Nam DE, et al. Genes Genomics. 2018 Jan;40(1):77-84. doi: 10.1007/s13258-017-0612-x. Epub 2017 Oct 10. Genes Genomics. 2018. PMID: 29892902

8

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.

Kim SJ, Nam SH, Kanwal S, Nam DE, Yoo DH, Chae JH, Suh YL, Chung KW, Choi BO. Kim SJ, et al. Among authors: nam sh, nam de. Genes Genomics. 2018 Dec;40(12):1269-1277. doi: 10.1007/s13258-018-0721-1. Epub 2018 Aug 25. Genes Genomics. 2018. PMID: 30145633

9

Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.

Lee AJ, Nam DE, Choi YJ, Nam SH, Choi BO, Chung KW. Lee AJ, et al. Among authors: nam sh, nam de. Genes Genomics. 2020 Jun;42(6):663-672. doi: 10.1007/s13258-020-00933-9. Epub 2020 Apr 20. Genes Genomics. 2020. PMID: 32314272

10

Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.

Lee AJ, Nam DE, Choi YJ, Noh SW, Nam SH, Lee HJ, Kim SJ, Song GJ, Choi BO, Chung KW. Lee AJ, et al. Among authors: nam sh, nam de. Mol Genet Genomic Med. 2020 Sep;8(9):e1380. doi: 10.1002/mgg3.1380. Epub 2020 Jul 9. Mol Genet Genomic Med. 2020. PMID: 32648354 Free PMC article.

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