Koo H - Search Results

1

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: koo h. 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.

2

Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy.

Kim HS, Chung KW, Kang SH, Choi SK, Cho SY, Koo H, Kim SB, Choi BO. Kim HS, et al. Among authors: koo h. Neurogenetics. 2010 Oct;11(4):425-33. doi: 10.1007/s10048-010-0246-5. Epub 2010 May 5. Neurogenetics. 2010. PMID: 20443038

3

MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.

Choi BO, Kim SB, Kanwal S, Hyun YS, Park SW, Koo H, Yoo JH, Hyun JW, Park KD, Choi KG, Chung KW. Choi BO, et al. Among authors: koo h. Int J Mol Med. 2011 Sep;28(3):389-96. doi: 10.3892/ijmm.2011.678. Epub 2011 Apr 18. Int J Mol Med. 2011. PMID: 21503568

4

Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.

Chung KW, Hyun YS, Lee HJ, Jung HK, Koo H, Yoo JH, Kim SB, Park CI, Kim HN, Choi BO. Chung KW, et al. Among authors: koo h. J Peripher Nerv Syst. 2011 Jun;16(2):143-6. doi: 10.1111/j.1529-8027.2011.00329.x. J Peripher Nerv Syst. 2011. PMID: 21692914

5

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: koo h. Neurology. 2013 Jul 9;81(2):165-73. doi: 10.1212/WNL.0b013e31829a3421. Epub 2013 Jun 7. Neurology. 2013. PMID: 23749797

6

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.

Nakhro K, Park JM, Kim YJ, Yoon BR, Yoo JH, Koo H, Choi BO, Chung KW. Nakhro K, et al. Among authors: koo h. Neuromuscul Disord. 2013 Aug;23(8):656-63. doi: 10.1016/j.nmd.2013.05.009. Epub 2013 Jun 21. Neuromuscul Disord. 2013. PMID: 23796487

7

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.

Kim HJ, Hong YB, Park JM, Choi YR, Kim YJ, Yoon BR, Koo H, Yoo JH, Kim SB, Park M, Chung KW, Choi BO. Kim HJ, et al. Among authors: koo h. Orphanet J Rare Dis. 2013 Jul 12;8:104. doi: 10.1186/1750-1172-8-104. Orphanet J Rare Dis. 2013. PMID: 23844677 Free PMC article.

8

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.

Hong YB, Lee JH, Park JM, Choi YR, Hyun YS, Yoon BR, Yoo JH, Koo H, Jung SC, Chung KW, Choi BO. Hong YB, et al. Among authors: koo h. BMC Med Genet. 2013 Dec 5;14:125. doi: 10.1186/1471-2350-14-125. BMC Med Genet. 2013. PMID: 24314034 Free PMC article.

9

A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

Hong YB, Lee JH, Park HJ, Choi YR, Hyun YS, Park JH, Koo H, Chung KW, Choi BO. Hong YB, et al. Among authors: koo h. Mol Med Rep. 2015 Apr;11(4):2729-34. doi: 10.3892/mmr.2014.3047. Epub 2014 Dec 4. Mol Med Rep. 2015. PMID: 25482575

10

Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.

Hyun YS, Lee J, Kim HJ, Hong YB, Koo H, Smith AS, Kim DH, Choi BO, Chung KW. Hyun YS, et al. Among authors: koo h. Ann Hum Genet. 2015 Nov;79(6):460-9. doi: 10.1111/ahg.12134. Epub 2015 Sep 24. Ann Hum Genet. 2015. PMID: 26400421

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