Dong EL - Search Results

1

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. Among authors: dong el. Mol Diagn Ther. 2019 Dec;23(6):781-789. doi: 10.1007/s40291-019-00426-w. Mol Diagn Ther. 2019. PMID: 31630374

2

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. Mol Neurodegener. 2018 Jul 6;13(1):36. doi: 10.1186/s13024-018-0269-1. Mol Neurodegener. 2018. PMID: 29980238 Free PMC article.

3

Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.

Zou XH, Guo XX, Su HZ, Wang C, Dong EL, Wang N, Chen WJ, Zhang QJ. Zou XH, et al. Among authors: dong el. J Mol Neurosci. 2019 Aug;68(4):640-646. doi: 10.1007/s12031-019-01319-7. Epub 2019 May 10. J Mol Neurosci. 2019. PMID: 31077085

4

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: dong el. Brain. 2019 Aug 1;142(8):2238-2252. doi: 10.1093/brain/awz158. Brain. 2019. PMID: 31203368

5

Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.

Chen YJ, Wang MW, Dong EL, Lin XH, Wang N, Zhang ZQ, Lin X, Chen WJ. Chen YJ, et al. Among authors: dong el. Parkinsonism Relat Disord. 2019 Aug;65:256-260. doi: 10.1016/j.parkreldis.2019.06.008. Epub 2019 Jun 9. Parkinsonism Relat Disord. 2019. PMID: 31227335

6

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.

Lai LL, Chen YJ, Li YL, Lin XH, Wang MW, Dong EL, Wang N, Chen WJ, Lin X. Lai LL, et al. Among authors: dong el. Ann Clin Transl Neurol. 2020 Oct;7(10):1862-1869. doi: 10.1002/acn3.51169. Epub 2020 Aug 29. Ann Clin Transl Neurol. 2020. PMID: 32860341 Free PMC article.

7

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.

Chen YJ, Zhang ZQ, Wang MW, Qiu YS, Yuan RY, Dong EL, Zhao Z, Zhou HT, Wang N, Chen WJ, Lin X. Chen YJ, et al. Among authors: dong el. Front Neurol. 2021 May 19;12:627531. doi: 10.3389/fneur.2021.627531. eCollection 2021. Front Neurol. 2021. PMID: 34093392 Free PMC article.

8

Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.

Wang C, Yao XP, Chen HT, Lai JH, Guo XX, Su HZ, Dong EL, Zhang QJ, Wang N, Chen WJ. Wang C, et al. Among authors: dong el. J Hum Genet. 2017 Jul;62(7):697-701. doi: 10.1038/jhg.2017.25. Epub 2017 Mar 16. J Hum Genet. 2017. PMID: 28298627

9

Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76).

Lu YQ, Dong EL, Yang WQ, Lai LL, Lin XH, Ma LX, Chen WJ, Wang N, Lin X. Lu YQ, et al. Among authors: dong el. Stem Cell Res. 2019 Jan;34:101354. doi: 10.1016/j.scr.2018.11.015. Epub 2018 Nov 27. Stem Cell Res. 2019. PMID: 30611022 Free article.

10

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: dong el. Oncotarget. 2017 Feb 14;8(7):10945-10953. doi: 10.18632/oncotarget.14641. Oncotarget. 2017. PMID: 28099929 Free PMC article.

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