Koo H - Search Results

1

Electron Microscopy Pathology of ADSSL1 Myopathy.

Park HJ, Lee JE, Choi GS, Koo H, Han SJ, Yoo JH, Choi YC, Park KD. Park HJ, et al. Among authors: koo h. J Clin Neurol. 2017 Jan;13(1):105-106. doi: 10.3988/jcn.2017.13.1.105. Epub 2016 Nov 17. J Clin Neurol. 2017. PMID: 27868399 Free PMC article. No abstract available.

2

Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V.

Park HJ, Chang Y, Lee JE, Koo H, Oh J, Choi YC, Park KD. Park HJ, et al. Among authors: koo h. J Clin Neurol. 2016 Jul;12(3):373-5. doi: 10.3988/jcn.2016.12.3.373. Epub 2016 Jun 3. J Clin Neurol. 2016. PMID: 27273923 Free PMC article. No abstract available.

3

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.

Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Züchner S, Chung KW. Choi BO, et al. Among authors: koo h. Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7. Hum Mutat. 2011. PMID: 21480433 Free PMC article.

4

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

5

Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.

Lee SS, Lee HJ, Park JM, Hong YB, Park KD, Yoo JH, Koo H, Jung SC, Park HS, Lee JH, Lee MG, Hyun YS, Nakhro K, Chung KW, Choi BO. Lee SS, et al. Among authors: koo h. JAMA Neurol. 2013 May;70(5):607-15. doi: 10.1001/jamaneurol.2013.1250. JAMA Neurol. 2013. PMID: 23553329

6

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement.

Park JM, Kim YJ, Yoo JH, Hong YB, Park JH, Koo H, Chung KW, Choi BO. Park JM, et al. Among authors: koo h. Neuromuscul Disord. 2013 Jul;23(7):580-6. doi: 10.1016/j.nmd.2013.04.003. Epub 2013 May 24. Neuromuscul Disord. 2013. PMID: 23707328

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 novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.

Choi YR, Hong YB, Jung SC, Lee JH, Kim YJ, Park HJ, Lee J, Koo H, Lee JS, Jwa DH, Jung N, Woo SY, Kim SB, Chung KW, Choi BO. Choi YR, et al. Among authors: koo h. BMC Neurol. 2015 Oct 5;15:179. doi: 10.1186/s12883-015-0430-1. BMC Neurol. 2015. PMID: 26437932 Free PMC article.

9

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Lee J, Jung SC, Hong YB, Yoo JH, Koo H, Lee JH, Hong HD, Kim SB, Chung KW, Choi BO. Lee J, et al. Among authors: koo h. Mol Med Rep. 2016 Jul;14(1):33-40. doi: 10.3892/mmr.2016.5209. Epub 2016 May 4. Mol Med Rep. 2016. PMID: 27150940 Free PMC article. Review.

10

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

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