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Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Deng J, Yu J, Li P, 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, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z. Deng J, et al. Among authors: zhang w. Am J Hum Genet. 2020 Jun 4;106(6):793-804. doi: 10.1016/j.ajhg.2020.04.011. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413282 Free PMC article.
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: zhang w. Brain. 2021 Jul 28;144(6):1819-1832. doi: 10.1093/brain/awab077. Brain. 2021. PMID: 33693509 Free PMC article.
GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy.
Yu J, Luan XH, Yu M, Zhang W, Lv H, Cao L, Meng L, Zhu M, Zhou B, Wu XR, Li P, Gang Q, Liu J, Shi X, Liang W, Jia Z, Yao S, Yuan Y, Deng J, Hong D, Wang Z. Yu J, et al. Among authors: zhang w. Ann Clin Transl Neurol. 2021 Jun;8(6):1330-1342. doi: 10.1002/acn3.51371. Epub 2021 May 4. Ann Clin Transl Neurol. 2021. PMID: 33943039 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: zhang w. 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.
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