Works by Xiao, Jiangxi

Results: 29

The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

Published in:

2018

By:

Huifang Yan;
Kubisiak, Thomas;
Haoran Ji;
Jiangxi Xiao;
Jingmin Wang;
Burmeister, Margit;
Yan, Huifang;
Ji, Haoran;
Xiao, Jiangxi;
Wang, Jingmin

Publication type:

Letter

The appearance of ADCs in the non-affected areas of the patients with MELAS.

Published in:

Neuroradiology, 2011, v. 53, n. 4, p. 227, doi. 10.1007/s00234-010-0729-y

By:

Liu, Zhenghua;
Liu, Xiwei;
Hui, Lihong;
Zhao, Danhua;
Wang, Xiaoying;
Xie, Sheng;
Xiao, Jiangxi;
Jiang, Xuexiang

Publication type:

Article

Thigh MRI in antisynthetase syndrome, and comparisons with dermatomyositis and immune-mediated necrotizing myopathy.

Published in:

Rheumatology, 2023, v. 62, n. 1, p. 310, doi. 10.1093/rheumatology/keac269

By:

Zhang, Wenhao;
Zheng, Yiming;
Wang, Yikang;
Xiong, Hui;
Que, Chengli;
Zhang, Xiaohui;
Zhu, Ying;
Zhao, Yawen;
Yu, Meng;
Meng, Lingchao;
Lv, He;
Zhang, Wei;
Hao, Hongjun;
Xiao, Jiangxi;
Yuan, Yun;
Wang, Zhaoxia

Publication type:

Article

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

Published in:

2019

By:

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

Publication type:

journal article

Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.

Published in:

2020

By:

Yang, Ying;
Xiangwei, Wenshu;
Zhang, Xiaoli;
Xiao, Jiangxi;
Chen, Jiaoyang;
Yang, Xiaoling;
Jia, Tianming;
Yang, Zhixian;
Jiang, Yuwu;
Zhang, Yuehua

Publication type:

journal article

Comparison of Targeted Biopsy and Combined Biopsy to Avoid Unnecessary Systematic Biopsy in Patients with PI-RADS 5 Lesions.

Published in:

Biomedicines, 2023, v. 11, n. 12, p. 3163, doi. 10.3390/biomedicines11123163

By:

Yuan, Changwei;
Li, Derun;
Wu, Jingyun;
Shen, Qi;
Wang, Xiaoying;
Xiao, Jiangxi;
He, Zhisong;
Zhou, Liqun;
Li, Xuesong;
Liu, Yi;
Zhao, Zheng

Publication type:

Article

Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy.

Published in:

Cells (2073-4409), 2022, v. 11, n. 8, p. 1285, doi. 10.3390/cells11081285

By:

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

Publication type:

Article

Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 4, p. 183, doi. 10.1038/jhg.2012.152

By:

Zang, Lili;
Wang, Jingmin;
Jiang, Yuwu;
Gu, Qiang;
Gao, Zhijie;
Yang, Yanling;
Xiao, Jiangxi;
Wu, Ye

Publication type:

Article

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

Published in:

Oxidative Medicine & Cellular Longevity, 2021, p. 1, doi. 10.1155/2021/8819384

By:

Jian, Zini;
Wang, Xianpei;
Liu, Xueting;
Tian, Meng;
Wang, Quande;
Xiao, Jiangxi

Publication type:

Article

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

Published in:

2021

By:

Yang, Mei;
Zheng, Yiming;
Xie, Zhiying;
Wang, Zhaoxia;
Xiao, Jiangxi;
Zhang, Jue;
Yuan, Yun

Publication type:

journal article

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.

Published in:

BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/3710814

By:

Xie, Zhiying;
Xiao, Jiangxi;
Zheng, Yiming;
Wang, Zhaoxia;
Yuan, Yun

Publication type:

Article

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

Published in:

PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157258

By:

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

Publication type:

Article

Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy.

Published in:

2016

By:

Jin, Suqin;
Du, Jing;
Wang, Zhaoxia;
Zhang, Wei;
Lv, He;
Meng, Lingchao;
Xiao, Jiangxi;
Yuan, Yun

Publication type:

journal article

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

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.825793

By:

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

Publication type:

Article

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.

Published in:

International Journal of Genomics, 2018, p. 1, doi. 10.1155/2018/2361068

By:

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

Publication type:

Article

Asymmetry analysis of cingulum based on scale-invariant parameterization by diffusion tensor imaging.

Published in:

Human Brain Mapping, 2005, v. 24, n. 2, p. 92, doi. 10.1002/hbm.20072

By:

Gong, Gaolang;
Jiang, Tianzi;
Zhu, Chaozhe;
Zang, Yufeng;
Wang, Fei;
Xie, Sheng;
Xiao, Jiangxi;
Guo, Xuemei

Publication type:

Article

Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.

Published in:

Molecular Genetics & Genomics, 2013, v. 288, n. 7/8, p. 297, doi. 10.1007/s00438-013-0749-5

By:

Jiao, Hui;
Manya, Hiroshi;
Wang, Shuo;
Zhang, Yanzhi;
Li, Xiaoqing;
Xiao, Jiangxi;
Yang, Yanling;
Kobayashi, Kazuhiro;
Toda, Tatsushi;
Endo, Tamao;
Wu, Xiru;
Xiong, Hui

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1085283

By:

Fan Li;
Qi Wang;
Ying Zhu;
Jiangxi Xiao;
Muliang Gu;
Jiaxi Yu;
Jianwen Deng;
Wei Sun;
Zhaoxia Wang

Publication type:

Article

Magnetic resonance imaging features of prostatic stromal tumour of uncertain malignant potential.

Published in:

Journal of Medical Imaging & Radiation Oncology, 2022, v. 66, n. 8, p. 1065, doi. 10.1111/1754-9485.13414

By:

Liu, Yi;
Wu, Jingyun;
Shen, Qi;
Li, Derun;
He, Zhisong;
Zhou, Liqun;
Xiao, Jiangxi

Publication type:

Article

recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.

Published in:

Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. e122, doi. 10.1093/brain/awac314

By:

Yan, Huifang;
Kubisiak, Thomas;
Gao, Kai;
Xiao, Jiangxi;
Wang, Junyu;
Zhang, Yu;
Wu, Ye;
Jiang, Yuwu;
Burmeister, Margit;
Wang, Jingmin

Publication type:

Article

Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.

Published in:

Minerva Pediatrics, 2023, v. 75, n. 1, p. 32, doi. 10.23736/S2724-5276.16.04451-0

By:

Taoyun JI;
Dongxiao LI;
Ye WU;
Jiangxi XIAO;
Haoran JI;
Xiru WU;
Jingmin WANG;
Yuwu JIANG

Publication type:

Article

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1311, doi. 10.1002/acn3.50831

By:

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

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.602413

By:

Liu, Ran;
Zhang, Haoran;
Cheng, Shuangjuan;
Sun, Yuyao;
Li, Haijiao;
Xiao, Jiangxi;
Huang, Yining

Publication type:

Article

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

Published in:

PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128629

By:

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

Publication type:

Article

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

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079859

By:

Yu, Lei;
Xie, Sheng;
Xiao, Jiangxi;
Wang, Zhaoxia;
Zhang, Xiaodong

Publication type:

Article

Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1123, doi. 10.1007/s11011-017-9985-4

By:

Cao, Binbin;
Yang, Xiaoping;
Chen, Yinyin;
Huang, Qionghui;
Wu, Ye;
Gu, Qiang;
Xiao, Jiangxi;
Yang, Huixia;
Pan, Hong;
Chen, Junya;
Sun, Yu;
Ren, Li;
Zhao, Chengfeng;
Deng, Yanhua;
Yang, Yanling;
Chang, Xingzhi;
Yang, Zhixian;
Zhang, Yuehua;
Niu, Zhengping;
Wang, Juli

Publication type:

Article

Magnetic resonance imaging changes of thigh muscles in myopathy with antibodies to signal recognition particle.

Published in:

Rheumatology, 2015, v. 54, n. 6, p. 1017, doi. 10.1093/rheumatology/keu422

By:

Yiming Zheng;
Linlin Liu;
Lu Wang;
Jiangxi Xiao;
Zhaoxia Wang;
He Lv;
Wei Zhang;
Yun Yuan

Publication type:

Article

Spinal Cord Demyelination Associated With Biotinidase Deficiency in 3 Chinese Patients.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 2, p. 156, doi. 10.1177/0883073807300307

By:

Yanling Yang;
Chaoyang Li;
Zhaoyue Qi;
Jiangxi Xiao;
Yao Zhang;
Seiji Yamaguchi;
Yuki Hasegawa;
Yasuko Tagami;
Yuwu Jiang;
Hui Xiong;
Yuehua Zhang;
Jiong Qin;
Xi-Ru Wu

Publication type:

Article

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

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0794-y

By:

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

Publication type:

Article