Leng X - Search Results

1

Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.

Wu Y, Pan Y, Du L, Wang J, Gu Q, Gao Z, Li J, Leng X, Qin J, Wu X, Jiang Y. Wu Y, et al. Among authors: leng x. J Hum Genet. 2009 Feb;54(2):74-7. doi: 10.1038/jhg.2008.10. Epub 2009 Jan 16. J Hum Genet. 2009. PMID: 19158808

2

Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.

Leng X, Wu Y, Wang X, Pan Y, Wang J, Li J, Du L, Dai L, Wu X, Proud CG, Jiang Y. Leng X, et al. J Hum Genet. 2011 Apr;56(4):300-5. doi: 10.1038/jhg.2011.9. Epub 2011 Feb 10. J Hum Genet. 2011. PMID: 21307862

3

[Advances in functional study of EIF2B mutations in leukoencephalopathy with vanishing white matter].

Leng XR, Wu Y, Jiang YW. Leng XR, et al. Sheng Li Ke Xue Jin Zhan. 2010 Apr;41(2):125-8. Sheng Li Ke Xue Jin Zhan. 2010. PMID: 21416999 Review. Chinese. No abstract available.

4

Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.

Zhang H, Dai L, Chen N, Zang L, Leng X, Du L, Wang J, Jiang Y, Zhang F, Wu X, Wu Y. Zhang H, et al. Among authors: leng x. PLoS One. 2015 Mar 11;10(3):e0118001. doi: 10.1371/journal.pone.0118001. eCollection 2015. PLoS One. 2015. PMID: 25761052 Free PMC article.

5

Endoplasmic reticulum stress intolerance in EIF2B3 mutant oligodendrocytes is modulated by depressed autophagy.

Chen N, Dai L, Jiang Y, Wang J, Hao H, Ren Y, Leng X, Zang L, Wu Y. Chen N, et al. Among authors: leng x. Brain Dev. 2016 May;38(5):507-15. doi: 10.1016/j.braindev.2015.11.002. Epub 2015 Nov 25. Brain Dev. 2016. PMID: 26625702

6

Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor.

Leng XR, Qi XH, Zhou YT, Wang YP. Leng XR, et al. J Hum Genet. 2017 Jun;62(6):641-646. doi: 10.1038/jhg.2017.21. Epub 2017 Mar 16. J Hum Genet. 2017. PMID: 28298626

7

Frequency-specific changes in the default mode network in patients with cingulate gyrus epilepsy.

Leng X, Xiang J, Yang Y, Yu T, Qi X, Zhang X, Wu S, Wang Y. Leng X, et al. Hum Brain Mapp. 2020 Jun 15;41(9):2447-2459. doi: 10.1002/hbm.24956. Epub 2020 Feb 25. Hum Brain Mapp. 2020. PMID: 32096905 Free PMC article.

8

Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children.

Leng X, Zhang T, Guan Y, Tang M. Leng X, et al. Seizure. 2022 Dec;103:108-114. doi: 10.1016/j.seizure.2022.11.005. Epub 2022 Nov 11. Seizure. 2022. PMID: 36399868 Free article.

9

[Clinical features and gene analysis of TBC1D24 gene mutation related early-onset focal myoclonic epilepsy].

Leng XR, Ye J, Zhou QL, Qi XH, Dong YH, Zhang LP, Zhang YF, Wang YP, Li LP, Lin YC. Leng XR, et al. Zhonghua Yi Xue Za Zhi. 2018 Feb 6;98(6):445-449. doi: 10.3760/cma.j.issn.0376-2491.2018.06.010. Zhonghua Yi Xue Za Zhi. 2018. PMID: 29429257 Chinese.

10

The Correlation of ELP4-PAX6 With Rolandic Spike Sources in Idiopathic Rolandic Epilepsy Syndromes.

Duan Y, Leng X, Liu C, Qi X, Zhang L, Tan W, Zhang X, Wang Y. Duan Y, et al. Among authors: leng x. Front Neurol. 2021 Apr 9;12:643964. doi: 10.3389/fneur.2021.643964. eCollection 2021. Front Neurol. 2021. PMID: 33897599 Free PMC article.

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