Yun Yuan

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 23

Top Topics

Intellectual Disability

Magnetic Resonance

Top Venues

Orphanet journal of rare diseases

Neuropathology : official journal of the Japanese Society of Neuropathology

BioMed research international

This page only lists publications with an associated author ORCID identifier.

Publications

Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies. Orphanet journal of rare diseases 19 (1) (2024)
Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies. Orphanet journal of rare diseases 19 (1) (2024)
Zhihao Xie, Chang Liu, Chengyue Sun, Yilin Liu, Jieru Peng, Lingchao Meng, Jianwen Deng, Zhaoxia Wang, Chunxia Yang, Yun Yuan, Zhiying Xie
Single-Nucleus RNA Sequencing Unravels Early Mechanisms of Human Becker Muscular Dystrophy. Annals of neurology (2024)
Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies. Orphanet journal of rare diseases 19 (1) (2024)
Tongling Liufu, Xutong Zhao, Meng Yu, Zhiying Xie, Lingchao Meng, He Lv, Wei Zhang, Yun Yuan, Guogang Xing, Jianwen Deng, Zhaoxia Wang
Multiomics analysis reveals serine catabolism as a potential therapeutic target for MELAS. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 38 (12) (2024)
Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies. Orphanet journal of rare diseases 19 (1) (2024)
Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies. Orphanet journal of rare diseases 19 (1) (2024)
Chen Ling, Li Bai, Yu Guo, Yun Yuan, Qing Peng
Massive Microbleeds in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. Stroke (2023)
Zhiying Xie, Yunlong Lu, Chang Liu, Chengyue Sun, Jiaxi Yu, Chen Ling, Xinghua Luan, Wei Wang, Li Wang, Yanhong Liang, Qianbo Luo, Lingchao Meng, Zhaoxia Wang, Yun Yuan
Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophy. Journal of clinical laboratory analysis (2023)
Zhenyu Li, Yize Li, Xujun Chu, Kang Du, Yuwei Tang, Zhiying Xie, Meng Yu, Jianwen Deng, He Lv, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa. Neuropathology : official journal of the Japanese Society of Neuropathology (2023)
Rui Ban, Robert Kopajtich, Junlan Lv, Sarah L Stenton, Masaru Shimura, Zhaoxia Wang, Yun Yuan, Junling Wang, Xiaodi Han, Zhimei Liu, Qiang Shi, Chuanqiang Pu, Holger Prokisch, Fang Fang, Matthias Elstner
The phenotypic spectrum of COX20-associated mitochondrial disorder. Brain : a journal of neurology (2022)
Chen Ling, Haotian Yan, Yun Yuan, Qing Peng
Hot Cross Bun Sign in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. Stroke (2022)
Zhiying Xie, Chengyue Sun, Chang Liu, Zhihao Xie, Luhua Wei, Jiaxi Yu, Chen Ling, Xuejun Guo, Yilin Liu, Meng Yu, Yinglin Leng, Lingchao Meng, Yunchuang Sun, Jianwen Deng, Suzanne M Leal, Isabelle Schrauwen, Zhaoxia Wang, Yun Yuan
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. Journal of neurology (2022)
Zhixing Ma, He Lv, Hongwei Zhang, Hui Wang, Jingcheng Li, Meng Yu, Ying Zhu, Diandian Huang, Lingchao Meng, Yun Yuan
Clinicopathological features in two families with MARS-related Charcot-Marie-Tooth disease. Neuropathology : official journal of the Japanese Society of Neuropathology (2022)
Dao-Jun Hong, Hui Wang, Min Zhu, Yun Peng, Pengcheng Huang, Yilei Zheng, Meng Yu, Lingchao Meng, Fan Li, Jiaxi Yu, Meihong Zhou, Jianwen Deng, Zhaoxia Wang, Yun Yuan
Subclinical peripheral neuropathy is common in neuronal intranuclear inclusion disease with dominant encephalopathy. European journal of neurology (2022)
Mei Yang, Yiming Zheng, Zhiying Xie, Zhaoxia Wang, Jiangxi Xiao, Jue Zhang, Yun Yuan
A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images. BMC neurology 21 (1) (2021)
Chengyue Sun, Yue Wu, Chen Ling, Zhiying Xie, Yunchuang Sun, Zhihao Xie, Zhixin Li, Xiaojing Fang, Qingle Kong, Jing An, Bo Wang, Yan Zhuo, Wei Zhang, Zhaoxia Wang, Yun Yuan, Zihao Zhang
Reduced blood flow velocity in lenticulostriate arteries of patients with CADASIL assessed by PC-MRA at 7T. Journal of neurology, neurosurgery, and psychiatry (2021)
Ying Li, Xueliang Qi, Wei Zhang, Liqun Feng, Yun Yuan
A novel homozygous splicing mutation of the AGL gene in a Chinese patient with severe myopathy involvement of glycogen storage disease type IIIa. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 42 (4) (2020)
Yawen Zhao, Wei Zhang, Yilin Liu, Zhaoxia Wang, Yun Yuan
Factors associated with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodies. Orphanet journal of rare diseases 15 (1) (2020)
Wei Zhang, Bing Wen, Jun Lu, Yawen Zhao, Daojun Hong, Zhe Zhao, Cheng Zhang, Yuebei Luo, Xueliang Qi, Yingshuang Zhang, Xueqin Song, Yuying Zhao, Chongbo Zhao, Jing Hu, Huan Yang, Zhaoxia Wang, Chuanzhu Yan, Yun Yuan
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study. Orphanet journal of rare diseases 14 (1) (2019)
Zhiying Xie, Zhihao Xie, Meng Yu, Yiming Zheng, Chengyue Sun, Yilin Liu, Chen Ling, Ying Zhu, Wei Zhang, Jiangxi Xiao, Zhaoxia Wang, Yun Yuan
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex. Orphanet journal of rare diseases 14 (1) (2019)
Zhiying Xie, Jiangxi Xiao, Yiming Zheng, Zhaoxia Wang, Yun Yuan
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. BioMed research international 2018 (2018)
Rui Wu, He Lv, Wei Zhang, Zhaoxia Wang, Yuehuan Zuo, Jing Liu, Yun Yuan
Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort. BioMed research international 2017 (2017)