Anna Cho
Ewha Womans University
54 Papers
96 Citations
Anna Cho is an academic researcher from Ewha Womans University. The author has contributed to research in topics: Medicine & Myopathy. The author has an hindex of 13, co-authored 29 publications. Previous affiliations of Anna Cho include New Generation University College & Seoul National University.
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Papers
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)
Anna Cho,Yukiko K. Hayashi,Kazunari Monma,Yasushi Oya,Satoru Noguchi,Ikuya Nonaka,Ichizo Nishino +6 more
TL;DR: The mutation profile of the GNE gene in 212 Japanese GNE myopathy patients, which is the largest single-ethnic cohort for this ultra-orphan disease, is reported, and the clinical difference between mutation groups is confirmed.
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Pantothenate kinase-associated neurodegeneration in Korea: Recurrent R440P mutation in PANK2 and outcome of deep brain stimulation
Byung Chan Lim,Chang-Seok Ki,Anna Cho,Hee Hwang,Ki Joong Kim,Yong-Seung Hwang,Yongsun Kim,Ji Young Yun,Beomseok Jeon,Yong Hoon Lim,Sun Ha Paek,Jong Hee Chae +11 more
TL;DR: The purpose of this study was to evaluate the mutation status of PANK2 among Korean patients with pantothenate kinase‐associated neurodegeneration and to document the outcome of pallidal deep brain stimulation (DBS).
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Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
Anna Cho,Moon Woo Seong,Byung Chan Lim,Hwa Jeen Lee,Jung Hye Byeon,Jung Hye Byeon,Seung Soo Kim,Seung Soo Kim,Soo Yeon Kim,Sun Ah Choi,Ai Lynn Wong,Jeong Ho Lee,Jeong Ho Lee,Jon Soo Kim,Jon Soo Kim,Hye Won Ryu,Jin Sook Lee,Jin Sook Lee,Hunmin Kim,Hunmin Kim,Hee Hwang,Hee Hwang,Jieun Choi,Jieun Choi,Ki Joong Kim,Young Seung Hwang,Ki Ho Hong,Seungman Park,Sung Im Cho,Seung Jun Lee,Hyunwoong Park,Soo Hyun Seo,Sung Sup Park,Jong Hee Chae +33 more
TL;DR: Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X‐linked recessive muscle diseases caused by mutations in the large and complex Dystrophin gene.
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Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
Bung Chan Lim,Chang-Seok Ki,Jong-Won Kim,Anna Cho,Min Jung Kim,Hee Hwang,Ki Joong Kim,Yong Seung Hwang,Woong-Yang Park,Yun-Jung Lim,In One Kim,Jun Su Lee,Jong Hee Chae +12 more
TL;DR: FKTN mutations are the most common genetic cause of CMD with defective alpha-dystroglycan glycosylation in Korea and is associated with a more severe clinical and radiological phenotype compared with homozygosity for the retrotransposal insertion mutation.
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A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype.
Tai-Seung Nam,Wenting Li,Suk Hee Heo,Kyung-Hwa Lee,Anna Cho,Jin Hong Shin,Young Ok Kim,Jong Hee Chae,Dae Seong Kim,Myeong Kyu Kim,Seok-Yong Choi +10 more
TL;DR: It is concluded that a novel p.(Phe91Leu) mutation in DNAJB6 is associated with severe childhood-onset LGMD1D, and functional consequences of the identified mutation using a zebrafish model.
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