Yoo JH - 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: yoo jh. 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

ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.

Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO. Park HJ, et al. Among authors: yoo jh. Ann Neurol. 2016 Feb;79(2):231-43. doi: 10.1002/ana.24550. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506222

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: yoo jh. 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

Laryngeal myofascial pain syndrome as a new diagnostic entity of dysphonia.

Jung SY, Park HS, Bae H, Yoo JH, Park HJ, Park KD, Kim HS, Chung SM. Jung SY, et al. Among authors: yoo jh. Auris Nasus Larynx. 2017 Apr;44(2):182-187. doi: 10.1016/j.anl.2016.05.001. Epub 2016 Jun 1. Auris Nasus Larynx. 2017. PMID: 27262220

5

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: yoo jh. 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

6

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: yoo jh. JAMA Neurol. 2013 May;70(5):607-15. doi: 10.1001/jamaneurol.2013.1250. JAMA Neurol. 2013. PMID: 23553329

7

Clinical Usefulness of Ultrasonography-Guided Laryngeal Electromyography.

Park HS, Jung SY, Yoo JH, Park HJ, Lee CH, Kim HS, Chung SM. Park HS, et al. Among authors: yoo jh. J Voice. 2016 Jan;30(1):100-3. doi: 10.1016/j.jvoice.2015.03.009. Epub 2015 Nov 18. J Voice. 2016. PMID: 26602419

8

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: yoo jh. 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

9

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: yoo jh. 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.

10

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: yoo jh. 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.

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