Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene

por Xie, Zhiying, Xiao, Jiangxi, Zheng, Yiming, Wang, Zhaoxia, Yuan, Yun
Publicado 2018

An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene

por Sun, Chengyue, Xie, Zhiying, Cong, Lu, Xu, Yan, Liu, Zunjing
Publicado 2022

Exploring mechanisms of Chaihu-Shugan-San against liver fibrosis by integrated multi-omics and network pharmacology approach

por Xie, Zhihao, Xie, Zhiying, Trujillo, Nicolas Pineda, Yang, Ting, Yang, Chunxia
Publicado 2022

Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases

por Hou, Yue, Xie, Zhiying, Zhao, Xutong, Yuan, Yun, Dou, Pan, Wang, Zhaoxia
Publicado 2019

A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images

por Yang, Mei, Zheng, Yiming, Xie, Zhiying, Wang, Zhaoxia, Xiao, Jiangxi, Zhang, Jue, Yuan, Yun
Publicado 2021

Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions

por Hou, Yue, Zhao, Xutong, Xie, Zhiying, Yu, Meng, Lv, He, Zhang, Wei, Yuan, Yun, Wang, Zhaoxia
Publicado 2022

Self- and dis-assembly behavior of segmented wormlike nanostructures from an ABC triblock copolymer

por Liang, Kaiyuan, He, Guohao, Wang, Qimeng, Xie, Zhiying, Li, Mingming, Li, Xin, Yu, Haizhou, Qiu, Xiaoyan
Publicado 2021

Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients

por Xie, Zhiying, Hou, Yue, Yu, Meng, Liu, Yilin, Fan, Yanbin, Zhang, Wei, Wang, Zhaoxia, Xiong, Hui, Yuan, Yun
Publicado 2019

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy

por Yu, Meng, Zhu, Ying, Xie, Zhiying, Zheng, Yiming, Xiao, Jiangxi, Zhang, Wei, Nishino, Ichizo, Yuan, Yun, Wang, Zhaoxia
Publicado 2019

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration

por Wan, Yalan, Jiang, Yanyan, Xie, Zhiying, Ling, Chen, Du, Kang, Li, Ran, Yuan, Yun, Wang, Zhaoxia, Sun, Wei, Jin, Haiqiang
Publicado 2022

Erythrocytic α-Synuclein as a potential biomarker for Parkinson’s disease

por Tian, Chen, Liu, Genliang, Gao, Liyan, Soltys, David, Pan, Catherine, Stewart, Tessandra, Shi, Min, Xie, Zhiying, Liu, Na, Feng, Tao, Zhang, Jing
Publicado 2019

Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex

por Xie, Zhiying, Xie, Zhihao, Yu, Meng, Zheng, Yiming, Sun, Chengyue, Liu, Yilin, Ling, Chen, Zhu, Ying, Zhang, Wei, Xiao, Jiangxi, Wang, Zhaoxia, Yuan, Yun
Publicado 2019

Comparison of cytokine/chemokine profiles between dermatomyositis and anti-synthetase syndrome

por Wang, Yikang, Zheng, Yiming, Zhao, Yawen, Liu, Yilin, Zhang, Wenhao, Yu, Meng, Xie, Zhiying, Hao, Hongjun, Gao, Feng, Zhang, Wei, Wang, Zhaoxia, Yuan, Yun
Publicado 2022

Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophy

por Xie, Zhiying, Liu, Chang, Lu, Yanyu, Sun, Chengyue, Liu, Yilin, Yu, Meng, Shu, Junlong, Meng, Lingchao, Deng, Jianwen, Zhang, Wei, Wang, Zhaoxia, Lv, He, Yuan, Yun
Publicado 2022

Novel and Recurrent Mutations in a Cohort of Chinese Patients With Young-Onset Amyotrophic Lateral Sclerosis

por Deng, Jianwen, Wu, Wei, Xie, Zhiying, Gang, Qiang, Yu, Meng, Liu, Jing, Wang, Qingqing, Lv, He, Zhang, Wei, Huang, Yining, Wang, Tao, Yuan, Yun, Hong, Daojun, Wang, Zhaoxia
Publicado 2019

Subsarcolemmal and cytoplasmic p62 positivity and rimmed vacuoles are distinctive for PLIN4 ‐myopathy

por Wang, Qi, Yu, Meng, Zhang, Wei, Gang, Qiang, Xie, Zhiying, Xu, Jin, Zhou, Chao, Wang, Depeng, Meng, Lingchao, Lv, He, Jia, Zhirong, Deng, Jianwen, Yuan, Yun, Wang, Zhaoxia
Publicado 2022

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene

por Xie, Zhiying, Tang, Liuqin, Xie, Zhihao, Sun, Chengyue, Shuai, Haoyue, Zhou, Chao, Liu, Yilin, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Zhang, Wei, Leal, Suzanne M., Wang, Zhaoxia, Schrauwen, Isabelle, Yuan, Yun
Publicado 2020

Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies

por Xie, Zhiying, Sun, Chengyue, Zhang, Siwen, Liu, Yilin, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Acharya, Anushree, Cornejo‐Sanchez, Diana M, Wang, Gao, Zhang, Wei, Schrauwen, Isabelle, Leal, Suzanne M., Wang, Zhaoxia, Yuan, Yun
Publicado 2020

Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP‐related multisystem proteinopathy

por Wan, Yalan, Wang, Qi, Zheng, Yiming, Yu, Meng, Xie, Zhiying, Ling, Chen, Meng, Lingchao, Yu, Jiaxi, Zheng, Yilei, Wang, Yikang, Zhang, Wenhao, Liu, Chang, Zhao, Yawen, Yuan, Yun, Deng, Jianwen, Gang, Qiang, Wang, Zhaoxia
Publicado 2023

First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy

por Xie, Zhiying, Sun, Chengyue, Liu, Chang, Chu, Xujun, Gang, Qiang, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Li, Fan, Xia, Dongliang, Wang, Li, Li, Ying, Deng, Jianwen, Lv, He, Wang, Zhaoxia, Zhang, Wei, Yuan, Yun
Publicado 2022