Zhao M - Search Results

1

Identification of SLC20A2 deletions in patients with primary familial brain calcification.

Guo XX, Su HZ, Zou XH, Lai LL, Lu YQ, Wang C, Li YL, Hong JM, Zhao M, Lin KX, Lin J, Zeng YH, Yao XP, Wang N, Chen WJ. Guo XX, et al. Among authors: zhao m. Clin Genet. 2019 Jul;96(1):53-60. doi: 10.1111/cge.13540. Epub 2019 Apr 25. Clin Genet. 2019. PMID: 30891739

2

Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification.

Yao XP, Wang C, Su HZ, Guo XX, Lu YQ, Zhao M, Liu YB, Lai JH, Chen HT, Wang N, Chen WJ. Yao XP, et al. Among authors: zhao m. Gene. 2016 Oct 28:S0378-1119(16)30826-5. doi: 10.1016/j.gene.2016.10.037. Online ahead of print. Gene. 2016. PMID: 27984190

3

Modeling the phenotype of spinal muscular atrophy by the direct conversion of human fibroblasts to motor neurons.

Zhang QJ, Li JJ, Lin X, Lu YQ, Guo XX, Dong EL, Zhao M, He J, Wang N, Chen WJ. Zhang QJ, et al. Among authors: zhao m. Oncotarget. 2017 Feb 14;8(7):10945-10953. doi: 10.18632/oncotarget.14641. Oncotarget. 2017. PMID: 28099929 Free PMC article.

4

Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.

Yao XP, Zhao M, Wang C, Guo XX, Su HZ, Dong EL, Chen HT, Lai JH, Liu YB, Wang N, Chen WJ. Yao XP, et al. Among authors: zhao m. Cell Tissue Res. 2017 Nov;370(2):267-273. doi: 10.1007/s00441-017-2663-3. Epub 2017 Aug 2. Cell Tissue Res. 2017. PMID: 28766044

5

Application of urine cells in drug intervention for spinal muscular atrophy.

Zhang QJ, Lin X, Li JJ, Lu YQ, Guo XX, Dong EL, Zhao M, He J, Wang N, Chen WJ. Zhang QJ, et al. Among authors: zhao m. Exp Ther Med. 2017 Sep;14(3):1993-1998. doi: 10.3892/etm.2017.4791. Epub 2017 Jul 12. Exp Ther Med. 2017. PMID: 28962115 Free PMC article.

6

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.

Yao XP, Cheng X, Wang C, Zhao M, Guo XX, Su HZ, Lai LL, Zou XH, Chen XJ, Zhao Y, Dong EL, Lu YQ, Wu S, Li X, Fan G, Yu H, Xu J, Wang N, Xiong ZQ, Chen WJ. Yao XP, et al. Among authors: zhao y, zhao m. Neuron. 2018 Jun 27;98(6):1116-1123.e5. doi: 10.1016/j.neuron.2018.05.037. Epub 2018 Jun 14. Neuron. 2018. PMID: 29910000 Free article.

7

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Dong EL, Wang C, Wu S, Lu YQ, Lin XH, Su HZ, Zhao M, He J, Ma LX, Wang N, Chen WJ, Lin X. Dong EL, et al. Among authors: zhao m. Mol Neurodegener. 2018 Jul 6;13(1):36. doi: 10.1186/s13024-018-0269-1. Mol Neurodegener. 2018. PMID: 29980238 Free PMC article.

8

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.

Lin X, Su HZ, Dong EL, Lin XH, Zhao M, Yang C, Wang C, Wang J, Chen YJ, Yu H, Xu J, Ma LX, Xiong ZQ, Wang N, Chen WJ. Lin X, et al. Among authors: zhao m. Brain. 2019 Aug 1;142(8):2238-2252. doi: 10.1093/brain/awz158. Brain. 2019. PMID: 31203368

9

Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.

Zhao M, Chen YJ, Wang MW, Lin XH, Dong EL, Chen WJ, Wang N, Lin X. Zhao M, et al. Mol Diagn Ther. 2019 Dec;23(6):781-789. doi: 10.1007/s40291-019-00426-w. Mol Diagn Ther. 2019. PMID: 31630374

10

Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction.

Hong JM, Zhao M, He J, Huang XJ, Zhao ZY, Chen WJ, Wang N, Li JJ. Hong JM, et al. Among authors: zhao zy, zhao m. Chin Med J (Engl). 2020 Oct 20;133(20):2510-2511. doi: 10.1097/CM9.0000000000001102. Chin Med J (Engl). 2020. PMID: 32960844 Free PMC article. No abstract available.

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