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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: kim sb, kim hi, kim hj, kim dh, kim ej, kim sh. Ann Neurol. 2016 Feb;79(2):231-43. doi: 10.1002/ana.24550. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506222
Clinical heterogeneity in Korean patients with nemaline myopathy.
Hong JM, Kim SM, Sunwoo IN, Kim SH, Kim TS, Shim DS, Choi YC. Hong JM, et al. Among authors: kim ts, kim sh, kim sm. Yonsei Med J. 2010 Mar;51(2):225-30. doi: 10.3349/ymj.2010.51.2.225. Epub 2010 Feb 12. Yonsei Med J. 2010. PMID: 20191014 Free PMC article.
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: kim sh, kim s, kim sm. 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
p75 and neural cell adhesion molecule 1 can identify pathologic Schwann cells in peripheral neuropathies.
Kim YH, Kim YH, Shin YK, Jo YR, Park DK, Song MY, Yoon BA, Nam SH, Kim JH, Choi BO, Shin HY, Kim SW, Kim SH, Hong YB, Kim JK, Park HT. Kim YH, et al. Among authors: kim jk, kim sw, kim sh, kim jh. Ann Clin Transl Neurol. 2019 Jul;6(7):1292-1301. doi: 10.1002/acn3.50828. Epub 2019 Jul 2. Ann Clin Transl Neurol. 2019. PMID: 31353867 Free PMC article.
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