Hwang H - Search Results

1

Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.

Chae JH, Hwang H, Hwang YS, Cheong HJ, Kim KJ. Chae JH, et al. Among authors: hwang h, hwang ys. J Child Neurol. 2004 Jul;19(7):503-8. doi: 10.1177/08830738040190070501. J Child Neurol. 2004. PMID: 15526954

2

Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies.

Lim BC, Park JD, Hwang H, Kim KJ, Hwang YS, Chae JH, Cheon JE, Kim IO, Lee R, Moon HK. Lim BC, et al. Among authors: hwang h, hwang ys. J Child Neurol. 2009 Jul;24(7):828-32. doi: 10.1177/0883073808331085. J Child Neurol. 2009. PMID: 19617458

3

Ischemic stroke in a 7-month-old infant with antiphospholipid antibody and homozygous C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism.

Kim SH, Hwang H, Chae JH, Kim KJ, Hwang YS, Lim BC. Kim SH, et al. Among authors: hwang h, hwang ys. J Child Neurol. 2010 Aug;25(8):1047-50. doi: 10.1177/0883073809356710. Epub 2010 Jan 27. J Child Neurol. 2010. PMID: 20110213

4

Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.

Lim BC, Kim GB, Bae EJ, Noh CI, Hwang H, Kim KJ, Hwang YS, Ko TS, Chae JH. Lim BC, et al. Among authors: hwang h, hwang ys. J Child Neurol. 2010 Apr;25(4):490-3. doi: 10.1177/0883073809357937. J Child Neurol. 2010. PMID: 20382953

5

Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy.

Cho A, Kim SJ, Lim BC, Hwang H, Park JD, Kim GB, Jin DK, Lee J, Ki CS, Kim KJ, Hwang YS, Chae JH. Cho A, et al. Among authors: hwang h, hwang ys. J Child Neurol. 2012 Mar;27(3):319-24. doi: 10.1177/0883073811420295. Epub 2011 Sep 22. J Child Neurol. 2012. PMID: 21940687

6

Cerebellum can be a possible generator of progressive myoclonus.

Koh KN, Lim BC, Hwang H, Park JD, Chae JH, Kim KJ, Hwang YS, Kim SK, Wang KC, Moon HK. Koh KN, et al. Among authors: hwang h, hwang ys. J Child Neurol. 2010 Jun;25(6):728-31. doi: 10.1177/0883073809342273. Epub 2009 Sep 22. J Child Neurol. 2010. PMID: 19773463

7

Clinical features of A3243G mitochondrial tRNA mutation.

Chae JH, Hwang H, Lim BC, Cheong HI, Hwang YS, Kim KJ. Chae JH, et al. Among authors: hwang h, hwang ys. Brain Dev. 2004 Oct;26(7):459-62. doi: 10.1016/j.braindev.2004.01.002. Brain Dev. 2004. PMID: 15351082

8

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.

Lim BC, Ki CS, Kim JW, Cho A, Kim MJ, Hwang H, Kim KJ, Hwang YS, Park WY, Lim YJ, Kim IO, Lee JS, Chae JH. Lim BC, et al. Among authors: hwang h, hwang ys. Neuromuscul Disord. 2010 Aug;20(8):524-30. doi: 10.1016/j.nmd.2010.06.005. Neuromuscul Disord. 2010. PMID: 20620061

9

SCN1A mutational analysis in Korean patients with Dravet syndrome.

Lim BC, Hwang H, Chae JH, Choi JE, Hwang YS, Kang SH, Ki CS, Kim KJ. Lim BC, et al. Among authors: hwang h, hwang ys. Seizure. 2011 Dec;20(10):789-94. doi: 10.1016/j.seizure.2011.08.002. Epub 2011 Aug 24. Seizure. 2011. PMID: 21868258 Free article.

10

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.

Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, Hwang YS, Seo JS, Chae JH. Lim BC, et al. Among authors: hwang h, hwang ys. J Med Genet. 2011 Nov;48(11):731-6. doi: 10.1136/jmedgenet-2011-100133. Epub 2011 Oct 3. J Med Genet. 2011. PMID: 21969337

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