Publications by authors named "En-Lin Dong"

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Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral-Pallidoluysian Atrophy Patients.
Ru-Ying Yuan, Ya-Fang Chen, Wei Lin, Meng-Cheng Li, Yi-Heng Zeng, Yi Dong, En-Lin Dong

Ann Neurol· October 2025

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Novel Compound Missense and Intronic Splicing Mutation in Causes Autosomal Recessive Spastic Paraplegia.
Yi-Jun Chen, Zai-Qiang Zhang, Meng-Wen Wang, Yu-Sen Qiu, Ru-Ying Yuan, En-Lin Dong

Front Neurol· May 2021

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Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
Lu-Lu Lai, Yi-Jun Chen, Yun-Lu Li, Xiao-Hong Lin, Meng-Wen Wang, En-Lin Dong

Ann Clin Transl Neurol· October 2020

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Correction to: Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.
Xiao-Huan Zou, Xin-Xin Guo, Hui-Zhen Su, Chong Wang, En-Lin Dong

J Mol Neurosci· April 2020

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Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
Miao Zhao, Yi-Jun Chen, Meng-Wen Wang, Xiao-Hong Lin, En-Lin Dong

Mol Diagn Ther· December 2019

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Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.
Xiao-Huan Zou, Xin-Xin Guo, Hui-Zhen Su, Chong Wang, En-Lin Dong

J Mol Neurosci· August 2019

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Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.
Xiang Lin, Hui-Zhen Su, En-Lin Dong, Xiao-Hong Lin, Miao Zhao

Brain· August 2019

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Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.
Yi-Jun Chen, Meng-Wen Wang, En-Lin Dong, Xiao-Hong Lin, Ning Wang

Parkinsonism Relat Disord· August 2019

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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).
Ying-Qian Lu, En-Lin Dong, Wei-Qi Yang, Lu-Lu Lai, Xiao-Hong Lin

Stem Cell Res· January 2019

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Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
En-Lin Dong, Chong Wang, Shuang Wu, Ying-Qian Lu, Xiao-Hong Lin

Mol Neurodegener· July 2018

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c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.
Shuang Wu, Yun-Lu Li, Ning-Yi Cheng, Chong Wang, En-Lin Dong

J Mol Neurosci· June 2018

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Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.
Xiang-Ping Yao, Xuewen Cheng, Chong Wang, Miao Zhao, Xin-Xin Guo, En-Lin Dong

Neuron· June 2018

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Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.
Xiang-Ping Yao, Miao Zhao, Chong Wang, Xin-Xin Guo, Hui-Zhen Su, En-Lin Dong

Cell Tissue Res· November 2017

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Application of urine cells in drug intervention for spinal muscular atrophy.
Qi-Jie Zhang, Xiang Lin, Jin-Jing Li, Ying-Qian Lu, Xin-Xin Guo, En-Lin Dong

Exp Ther Med· September 2017

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Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.
Chong Wang, Xiang-Ping Yao, Hai-Ting Chen, Jing-Hui Lai, Xin-Xin Guo, En-Lin Dong

J Hum Genet· July 2017

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Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells.
Xiang Lin, Jin-Jing Li, Wen-Jing Qian, Qi-Jie Zhang, Zhong-Feng Wang, En-Lin Dong

Oncotarget· June 2017

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Modeling the phenotype of spinal muscular atrophy by the direct conversion of human fibroblasts to motor neurons.
Qi-Jie Zhang, Jin-Jing Li, Xiang Lin, Ying-Qian Lu, Xin-Xin Guo, En-Lin Dong

Oncotarget· February 2017

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