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A 3-Month-Old Boy With Progressive Weakness.
Kim SY, Ko JM, Choi SA, Cho A, Lee JS, Lim BC, Kim KJ, Chae JH. Kim SY, et al. Among authors: choi sa. Brain Pathol. 2018 Sep;28(5):773-774. doi: 10.1111/bpa.12651. Brain Pathol. 2018. PMID: 30375113 Free PMC article. No abstract available.
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
Cho A, Seong MW, Lim BC, Lee HJ, Byeon JH, Kim SS, Kim SY, Choi SA, Wong AL, Lee J, Kim JS, Ryu HW, Lee JS, Kim H, Hwang H, Choi JE, Kim KJ, Hwang YS, Hong KH, Park S, Cho SI, Lee SJ, Park H, Seo SH, Park SS, Chae JH. Cho A, et al. Among authors: choi je, choi sa. Muscle Nerve. 2017 May;55(5):727-734. doi: 10.1002/mus.25396. Epub 2017 Jan 20. Muscle Nerve. 2017. PMID: 27593222
Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173.
Seo J, Kang JA, Suh DI, Park EB, Lee CR, Choi SA, Kim SY, Kim Y, Park SH, Ye M, Kwon SH, Park JD, Lim BC, Lee DH, Kang SJ, Choi M, Park SG, Chae JH. Seo J, et al. Among authors: choi m, choi sa. J Allergy Clin Immunol. 2017 Apr;139(4):1396-1399.e12. doi: 10.1016/j.jaci.2016.10.030. Epub 2016 Dec 29. J Allergy Clin Immunol. 2017. PMID: 28041677 Free article. No abstract available.
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC. Choi SA, et al. Among authors: choi je, choi j. Ann Lab Med. 2017 Nov;37(6):516-521. doi: 10.3343/alm.2017.37.6.516. Ann Lab Med. 2017. PMID: 28840990 Free PMC article.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Finkel RS, et al. N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. N Engl J Med. 2017. PMID: 29091570 Free article. Clinical Trial.
248 results