Mao X - Search Results

1

[PRRT2 gene-related paroxysmal disorders].

Li J, Mao X, Wang J, Li N, Tang B. Li J, et al. Among authors: mao x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):595-9. doi: 10.3760/cma.j.issn.1003-9406.2014.01.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 25297589 Review. Chinese.

2

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.

Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, Liang Y, San-A, Li N, Chen SQ, Guo JF, Jiang H, Shen L, Zheng L, Mao X, Yan WQ, Zhou Y, Shi YT, Ai SX, Dai MZ, Zhang P, Xia K, Chen SD, Tang BS. Wang JL, et al. Among authors: mao x. Brain. 2011 Dec;134(Pt 12):3493-3501. doi: 10.1093/brain/awr289. Epub 2011 Nov 26. Brain. 2011. PMID: 22120146 Free PMC article.

3

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.

Liu XR, Wu M, He N, Meng H, Wen L, Wang JL, Zhang MP, Li WB, Mao X, Qin JM, Li BM, Tang B, Deng YH, Shi YW, Su T, Yi YH, Tang BS, Liao WP. Liu XR, et al. Among authors: mao x. Genes Brain Behav. 2013 Mar;12(2):234-40. doi: 10.1111/gbb.12008. Epub 2012 Dec 21. Genes Brain Behav. 2013. PMID: 23190448 Free article.

4

PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases.

Shi CH, Sun SL, Wang JL, Liu AQ, Miao W, Avinash C, Mao X, Tang BS, Xu YM. Shi CH, et al. Among authors: mao x. Mov Disord. 2013 Aug;28(9):1313-4. doi: 10.1002/mds.25370. Epub 2013 Mar 1. Mov Disord. 2013. PMID: 23456995 No abstract available.

5

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.

Wang JL, Mao X, Hu ZM, Li JD, Li N, Guo JF, Jiang H, Shen L, Li J, Shi YT, Xia K, Liu JY, Liao WP, Tang BS. Wang JL, et al. Among authors: mao x. Neurosci Lett. 2013 Sep 27;552:40-5. doi: 10.1016/j.neulet.2013.07.020. Epub 2013 Jul 26. Neurosci Lett. 2013. PMID: 23896529

6

Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.

He M, Tang BS, Li N, Mao X, Li J, Zhang JG, Xiao JJ, Wang J, Jiang H, Shen L, Guo JF, Xia K, Wang JL. He M, et al. Among authors: mao x. Clin Genet. 2014 Dec;86(6):598-600. doi: 10.1111/cge.12338. Epub 2014 Mar 13. Clin Genet. 2014. PMID: 24620919 No abstract available.

7

Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.

Huang XJ, Wang T, Wang JL, Liu XL, Che XQ, Li J, Mao X, Zhang M, Bi GH, Wu L, Zhang Y, Wang JY, Shen JY, Tang BS, Cao L, Chen SD. Huang XJ, et al. Among authors: mao x. Neurology. 2015 Nov 3;85(18):1546-53. doi: 10.1212/WNL.0000000000002079. Epub 2015 Oct 7. Neurology. 2015. PMID: 26446061

8

Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population.

Che XQ, Sun ZF, Mao X, Xia K, Yan XX, Jiang H, Shen L, Li N, Tang BS. Che XQ, et al. Among authors: mao x. Int J Neurosci. 2017 Jan;127(1):10-13. doi: 10.3109/00207454.2015.1136886. Epub 2016 Apr 6. Int J Neurosci. 2017. PMID: 26954261

9

Liu L, Li X, Hu Z, Mao X, Zi X, Xia K, Tang B, Zhang R. Liu L, et al. Among authors: mao x. Neuromuscul Disord. 2017 Feb;27(2):193-199. doi: 10.1016/j.nmd.2016.11.008. Epub 2016 Nov 18. Neuromuscul Disord. 2017. PMID: 28065684

10

Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.

Mao X, Li K, Tang B, Luo Y, Ding D, Zhao Y, Wang C, Zhou X, Liu Z, Zhang Y, Wang P, Xu Q, Sun Q, Xia K, Yan X, Jiang H, Lu S, Guo J. Mao X, et al. Sci Rep. 2017 May 9;7(1):1625. doi: 10.1038/s41598-017-01637-z. Sci Rep. 2017. PMID: 28487569 Free PMC article.

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