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Congenital muscular dystrophies in China.
Ge L, Zhang C, Wang Z, Chan SHS, Zhu W, Han C, Zhang X, Zheng H, Wu L, Jin B, Shan J, Mao B, Zhong J, Peng X, Cheng Y, Hu J, Sun Y, Lu J, Hua Y, Zhu S, Wei C, Wang S, Jiao H, Yang H, Fu X, Fan Y, Chang X, Wang S, Bao X, Zhang Y, Wang J, Wu Y, Jiang Y, Yuan Y, Rutkowski A, Bönnemann CG, Wei W, Wu X, Xiong H. Ge L, et al. Among authors: shan j. Clin Genet. 2019 Sep;96(3):207-215. doi: 10.1111/cge.13560. Epub 2019 Jun 6. Clin Genet. 2019. PMID: 31066047
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Yu J, Deng J, Guo X, Shan J, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Zhou B, Li P, Liu Y, Wang Y, Yan C, Hong D, Yuan Y, Wang Z. Yu J, et al. Among authors: shan j. Brain. 2021 Jul 28;144(6):1819-1832. doi: 10.1093/brain/awab077. Brain. 2021. PMID: 33693509 Free PMC article.
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J. Yu J, et al. Among authors: shan j. Am J Hum Genet. 2022 Mar 3;109(3):533-541. doi: 10.1016/j.ajhg.2022.01.012. Epub 2022 Feb 10. Am J Hum Genet. 2022. PMID: 35148830 Free PMC article.
2,120 results