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Molecular Neurodegeneration|July 8, 2018
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in ChinaEn-Lin Dong, Chong Wang, Shuang Wu, et al.Oncotarget|February 5, 2017
Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cellsXiang Lin, Jin-Jing Li, Wen-Jing Qian, et al.Journal of Molecular Neuroscience : MN|May 26, 2018
c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular AtrophyShuang Wu, Yun-Lu Li, Ning-Yi Cheng, et al.Clinical Genetics|March 21, 2019
Identification of SLC20A2 deletions in patients with primary familial brain calcificationXin-Xin Guo, Hui-Zhen Su, Xiao-Huan Zou, et al.Neuron|June 19, 2018
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain CalcificationXiang-Ping Yao, Xuewen Cheng, Chong Wang, et al.National Science Review|October 25, 2021
Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and miceJin-Jing Li, Xiang Lin, Cheng Tang, et al.Neuron|August 9, 2024
Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse modelMiao Zhao, Xuewen Cheng, Lei Chen, et al.Cell Discovery|November 28, 2022
Loss of function of CMPK2 causes mitochondria deficiency and brain calcificationMiao Zhao, Hui-Zhen Su, Yi-Heng Zeng, et al.Pageof 2