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[Analysis of SMN1 gene mutations in 78 patients with spinal muscular atrophy].
Li J, Zhu Y, Zhan Y, Li Y, Chen M, Wang L, He R, Zhang C. Li J, et al. Among authors: Zhang C. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Oct 10;34(5):658-661. doi: 10.3760/cma.j.issn.1003-9406.2017.05.008. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28981927 Chinese.
[Sibling brother and sister both with Duchenne muscular dystrophy].
Zhang YN, Zhang C, Feng HY, Sun XF, Lu XL, Li SY, Zhang HM, Li MS, Yu MJ, Wang SH, Huang H, Li Z, Shen BC. Zhang YN, et al. Among authors: Zhang C, Zhang HM. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007 Aug;29(4):543-7. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007. PMID: 19209802 Chinese.
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: Zhang C, Zhang X, Zhang Y. Clin Genet. 2019 Sep;96(3):207-215. doi: 10.1111/cge.13560. Epub 2019 Jun 6. Clin Genet. 2019. PMID: 31066047
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
Yang J, Li SY, Li YQ, Cao JQ, Feng SW, Wang YY, Zhan YX, Yu CS, Chen F, Li J, Sun XF, Zhang C. Yang J, et al. Among authors: Zhang C. BMC Med Genet. 2013 Mar 1;14:29. doi: 10.1186/1471-2350-14-29. BMC Med Genet. 2013. PMID: 23453023 Free PMC article.
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Sun SC, Ma D, Li MY, Zhang RX, Huang C, Huang HJ, Xie YZ, Wang ZJ, Liu J, Cai DC, Liu CX, Yang Q, Bao FX, Gong XL, Li JR, Hui Z, Wei XF, Zhong JM, Zhou WJ, Shang X, Zhang C, Liu XG, Tang BS, Xiong F, Xu XM. Sun SC, et al. Among authors: Zhang RX, Zhang C. Brain. 2019 Aug 1;142(8):2215-2229. doi: 10.1093/brain/awz151. Brain. 2019. PMID: 31199454
Enhanced effect of microdystrophin gene transfection by HSV-VP22 mediated intercellular protein transport.
Xiong F, Xiao S, Yu M, Li W, Zheng H, Shang Y, Peng F, Zhao C, Zhou W, Chen H, Fang L, Chamberlain JS, Zhang C. Xiong F, et al. Among authors: Zhang C. BMC Neurosci. 2007 Jul 8;8:50. doi: 10.1186/1471-2202-8-50. BMC Neurosci. 2007. PMID: 17617925 Free PMC article.
To improve the efficiency of plasmid-mediated gene therapy and investigate the utility of the intercellular trafficking properties of VP22-linked protein for the treatment for DMD, expression vectors for C-terminal versions of VP22-microdystrophin fusion protein was constructed and the VP22-mediated shuttle effect was evaluated both in vitro and in vivo. ...
To improve the efficiency of plasmid-mediated gene therapy and investigate the utility of the intercellular trafficking properties of VP22-l …
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.
Sheng-Yuan Z, Xiong F, Chen YJ, Yan TZ, Zeng J, Li L, Zhang YN, Chen WQ, Bao XH, Zhang C, Xu XM. Sheng-Yuan Z, et al. Among authors: Zhang YN, Zhang C. Eur J Hum Genet. 2010 Sep;18(9):978-84. doi: 10.1038/ejhg.2010.54. Epub 2010 May 5. Eur J Hum Genet. 2010. PMID: 20442745 Free PMC article.
Simultaneously, two '2+0' genotypes and two point mutations were found among the 44 obligate carriers in the core families, including a novel SMN1 splice-site mutation that was identified in the junction between intron 6 and exon 7 (c. 835-1G>A). ...
Simultaneously, two '2+0' genotypes and two point mutations were found among the 44 obligate carriers in the core families, including a nove …
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