Quantitative Measurement of Cerebral Oxygen Extraction Fraction Using MRI in Patients with MELAS

por Yu, Lei, Xie, Sheng, Xiao, Jiangxi, Wang, Zhaoxia, Zhang, Xiaodong
Publicado 2013

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

Research on BOLD-fMRI Data Denoising Based on Bayesian Estimation and Adaptive Wavelet Threshold

por Jian, Zini, Wang, Xianpei, Liu, Xueting, Tian, Meng, Wang, Quande, Xiao, Jiangxi
Publicado 2021

Association of Brain Iron Overload With Brain Edema and Brain Atrophy After Intracerebral Hemorrhage

por Liu, Ran, Zhang, Haoran, Cheng, Shuangjuan, Sun, Yuyao, Li, Haijiao, Xiao, Jiangxi, Huang, Yining
Publicado 2020

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 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

Unraveling rare form of adult-onset NIID by characteristic brain MRI features: A single-center retrospective review

por Li, Fan, Wang, Qi, Zhu, Ying, Xiao, Jiangxi, Gu, Muliang, Yu, Jiaxi, Deng, Jianwen, Sun, Wei, Wang, Zhaoxia
Publicado 2022

Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

por Fu, Xiaona, Yang, Haipo, Jiao, Hui, Wang, Shuo, Liu, Aijie, Li, Xiaoqing, Xiao, Jiangxi, Yang, Yanling, Wu, Xiru, Xiong, Hui
Publicado 2017

Clinical and Muscle Imaging Findings in 14 Mainland Chinese Patients with Oculopharyngodistal Myopathy

por Zhao, Juan, Liu, Jing, Xiao, Jiangxi, Du, Jing, Que, Chengli, Shi, Xin, Liang, Wei, Sun, Weiping, Zhang, Wei, Lv, He, Yuan, Yun, Wang, Zhaoxia
Publicado 2015

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

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research

por Cao, Binbin, Yan, Huifang, Guo, Mangmang, Xie, Han, Wu, Ye, Gu, Qiang, Xiao, Jiangxi, Shang, Jing, Yang, Yanling, Xiong, Hui, Niu, Zhengping, Wu, Xiru, Jiang, Yuwu, Wang, Jingmin
Publicado 2016

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

por Yan, Huifang, Shi, Zhen, Wu, Ye, Xiao, Jiangxi, Gu, Qiang, Yang, Yanling, Li, Ming, Gao, Kai, Chen, Yinyin, Yang, Xiaoping, Ji, Haoran, Cao, Binbin, Duan, Ruoyu, Jiang, Yuwu, Wang, Jingmin
Publicado 2019

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients

por Fan, Yanbin, Xu, Zhifei, Li, Xing, Gao, Feng, Guo, Enyu, Chang, Xingzhi, Wei, Cuijie, Zhang, Cheng, Yu, Qing, Que, Chengli, Xiao, Jiangxi, Yan, Chuanzhu, Wang, Zhaoxia, Yuan, Yun, Xiong, Hui
Publicado 2022

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy

por Chen, Li, Yan, Huifang, Cao, Binbin, Wu, Ye, Gu, Qiang, Xiao, Jiangxi, Yang, Yanling, Yang, Huixia, Shi, Zhen, Yang, Zhixian, Pan, Hong, Chang, Xingzhi, Chen, Junya, Sun, Yu, Zhang, Yuehua, Wu, Xiru, Jiang, Yuwu, Wang, Jingmin
Publicado 2018

Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy

por Yan, Huifang, Yang, Shuyan, Hou, Yiming, Ali, Saima, Escobar, Adrian, Gao, Kai, Duan, Ruoyu, Kubisiak, Thomas, Wang, Junyu, Zhang, Yu, Xiao, Jiangxi, Jiang, Yuwu, Zhang, Ting, Wu, Ye, Burmeister, Margit, Wang, Qiang, Cuajungco, Math P., Wang, Jingmin
Publicado 2022

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing

por Yan, Huifang, Ji, Haoran, Kubisiak, Thomas, Wu, Ye, Xiao, Jiangxi, Gu, Qiang, Yang, Yanling, Xie, Han, Ji, Taoyun, Gao, Kai, Li, Dongxiao, Xiong, Hui, Shi, Zhen, Li, Ming, Zhang, Yuehua, Duan, Ruoyu, Bao, Xinhua, Jiang, Yuwu, Burmeister, Margit, Wang, Jingmin
Publicado 2021

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients

por Ji, Haoran, Li, Dongxiao, Wu, Ye, Zhang, Quanli, Gu, Qiang, Xie, Han, Ji, Taoyun, Wang, Huifang, Zhao, Lu, Zhao, Haijuan, Yang, Yanling, Feng, Hongchun, Xiong, Hui, Ji, Jinhua, Yang, Zhixian, Kou, Liping, Li, Ming, Bao, Xinhua, Chang, Xingzhi, Zhang, Yuehua, Li, Li, Li, Huijuan, Niu, Zhengping, Wu, Xiru, Xiao, Jiangxi, Jiang, Yuwu, Wang, Jingmin
Publicado 2018