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1. Choi SA, Cho A, Kim SY, Kim WJ, Shim YK, Lee JS, Jang SS, Lim BC, Kim H, Hwang H, Choi JE, Kim KJ, Kim MJ, Seong MW, Chae JH. Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance. Muscle Nerve. 2019 Dec;60(6):668-672.

2. Kim SY, Lim BC, Lee JS, Kim WJ, Kim H, Ko JM, Kim KJ, Choi SA, Kim H, Hwang H, Choi JE, Cho A, Moon J, Seong MW, Park SS, Lee YJ, Kim YO, Kim JS, Kim WS, Kwon YS, Park JD, Ahn Y, Hwang JY, Park HY, Lee Y, Choi M, Chae JH. The Korean undiagnosed diseases program: lessons from a one-year pilot project. Orphanet J Rare Dis. 2019 Mar 20;14(1):68.

3. Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A, Jang SS, Lim BC, Kim KJ, Kim JI, Hahn SH, Chae JH. Collagen VI-related myopathy: Expanding the clinical and genetic spectrum. Muscle Nerve. 2018 Sep;58(3):381-388

4. Cho A, Malicdan MC, Miyakawa M, Nonaka I, Nishino I, Noguchi S. Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy. Hum Mol Genet. 2017 Aug 15;26(16):3081-3093.

5. 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. Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. Muscle Nerve. 2017 May;55(5):727-734.

6. Chae JH, Cho A. Floppy infant syndrome, in International Neurology (eds RP Lisak, DD Truong, WM Carroll and R Bhidayasiri), John Wiley & Sons, Ltd, Chichester, UK; 2016.

7. Chae JH, Vasta V, Cho A, Lim BC, Zhang Q, Eun SH, Hahn SH. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. J Med Genet. 2015 Mar;52(3):208-16.

8. Cho A, Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I. Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). J Neurol Neurosurg Psychiatry. 2014 Aug; 85(8):914-917.

9. Cho A, Noguchi S. Autophagy in GNE Myopathy. In: Bailly Y (ed.) Autophagy - A Double-Edged Sword - Cell Survival or Death? Rijeka: InTech; 2013.

10. Cho A, Kim SJ, Lim BC, Hwang H, Park JD, Kim GB, Jin DK, Lee J, Ki CS, Kim KJ, Hwang YS, Chae JH. Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy. J Child Neurol. 2012 Mar; 27(3):319-324

11. Lim BC, Ki CS, Kim JW, Cho A, Kim MJ, Hwang H, Kim KJ, Hwang YS, Park WY, Kim IO, Lee JS, Chae JH. Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystoglycan in Korea. Neuromuscul Disord, 2010 Aug; 20(8):524-30.

12. Kim H, Cho A, Lim BC, Kim MJ, Kim KJ, Nishino I, Hwang YS, Chae JH. A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. Muscle Nerve. 2010 Jun; 41(6):879-82.