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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: park jh, park hj. 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
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. Ann Neurol. 2016 Feb;79(2):231-43. doi: 10.1002/ana.24550. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506222
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: park kd. 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.
Distal myopathy with ADSSL1 mutations in Korean patients.
Park HJ, Shin HY, Kim S, Kim SH, Lee Y, Lee JH, Hong JM, Kim SM, Park KD, Choi BO, Lee JH, Choi YC. Park HJ, et al. Among authors: park kd. Neuromuscul Disord. 2017 May;27(5):465-472. doi: 10.1016/j.nmd.2017.02.004. Epub 2017 Feb 14. Neuromuscul Disord. 2017. PMID: 28268051
6,382 results