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Rongjuan Zhao

shanxi medical university

10H-index
51Paper Count
559Citation Count
Published Papers 15
Publication Date
Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population
err2025-04-05
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errOAAI
errXing, Yingming; Zhao, Lingqian; Zhao, Renlong; Liu, Qiyun; Wang, Juan; Wang, Le; Zhang, Wei; Guo, Junhong; Zhao, Rongjuan; Chang, Xueli
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Biallelic FDXR mutations induce ferroptosis in a rare mitochondrial disease with ataxia
err2025-03-01
err0
PREAI
errWang, Juan; Zhao, Rongjuan; Ma, Jing; Qin, Jiangbo; Zhang, Huiqiu; Guo, Junhong; Chang, Xueli; Zhang, Wei
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The Relationship Between Ribosome-Associated Quality Control and Neurological Disorders
err2024-12-25
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PREAI
errWang, Juan; Wang, Jianhua; Cao, Hanshuai; Xing, Yingming; Wang, Zhuoran; Ma, Jing; Zhao, Rongjuan; Zhang, Wei; Guo, Junhong; Chang, Xueli
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Efgartigimod versus intravenous immunoglobulin in the treatment of patients with impending myasthenic crisis
err2024-11-18
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errOAAI
errMa, Jing; Zhang, Huiqiu; Zhao, Junsen; Su, Menghan; Feng, Yingna; Yuan, Xiaoli; Liu, Dan; Pang, Xiaomin; Zhao, Rongjuan; Wang, Juan; Duan, Weisong; Chang, Xueli; Guo, Junhong; Zhang, Wei
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Relative frequencies and clinical features of Guillain-Barré Syndrome before and during the COVID-19 pandemic in North China
err2024-05-30
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errOAAI
errLi, Yaqian; Zhao, Rongjuan; Li, Ling; Xue, Huiru; Meng, Huaxing; Li, Guanxi; Liang, Feng; Zhang, Huiqiu; Ma, Jing; Pang, Xiaomin; Wang, Juan; Chang, Xueli; Guo, Junhong; Zhang, Wei
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The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis
err2024-02-16
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errOAAI
errMa, Jing; Zhang, Huiqiu; Liang, Feng; Li, Guanxi; Pang, Xiaomin; Zhao, Rongjuan; Wang, Juan; Chang, Xueli; Guo, Junhong; Zhang, Wei
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CGG Repeat Expansion in NOTCH2NLC Causing Overlapping Oculopharyngodistal Myopathy and Neuronal Intranuclear Inclusion Disease With Diffusion Weighted Imaging Abnormality in the Cerebellum
err2024-01-01
err1
errOAAI
errMa, Jing; Zhang, Huiqiu; Meng, Bing; Qin, Jiangbo; Liu, Hongye; Pang, Xiaomin; Zhao, Rongjuan; Wang, Juan; Guo, Junhong; Zhang, Wei
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A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family
err2023-09-27
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errOAAI
errWang, Juan; Zhao, Rongjuan; Cao, Hanshuai; Yin, Zhaoxu; Ma, Jing; Xing, Yingming; Zhang, Wei; Chang, Xueli; Guo, Junhong
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Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping
err2021-11-01
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PREAI
errLiu, Yalan; Shen, Lu; Zhang, Yaowen; Zhao, Rongjuan; Liu, Cenying; Luo, Sanchuan; Chen, Jingjing; Xia, Lu; Li, Taoxi; Peng, Yu; Xia, Kun
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The autism risk gene CNTN4 modulates dendritic spine formation
err2021-08-20
err7
PREAI
errZhao, Rongjuan; Zhu, Tengfei; Liu, Qiong; Tian, Qi; Wang, Meng; Chen, Jingjing; Tong, Dali; Yu, Bin; Guo, Hui; Xia, Kun; Qiu, Zilong; Hu, Zhengmao
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Biallelic loss-of-function variants inNEMFcause central nervous system impairment and axonal polyneuropathy
err2020-10-13
err16
PREAI
errAhmed, Ashfaque; Wang, Meng; Bergant, Gaber; Maroofian, Reza; Zhao, Rongjuan; Alfadhel, Majid; Nashabat, Marwan; AlRifai, Muhammad Talal; Eyaid, Wafaa; Alswaid, Abdulrahman; Beetz, Christian; Qin, Yan; Zhu, Tengfei; Tian, Qi; Xia, Lu; Wu, Huidan; Shen, Lu; Dong, Shanshan; Yang, Xinyi; Liu, Cenying; Ma, Linya; Zhang, Qiumeng; Khan, Rizwan; Shah, Abid Ali; Guo, Jifeng; Tang, Beisha; Leonardis, Lea; Writzl, Karin; Peterlin, Borut; Guo, Hui; Malik, Sajid; Xia, Kun; Hu, Zhengmao
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
err2019-10-15
err40
errOAAI
errGuo, Hui; Bettella, Elisa; Marcogliese, Paul C.; Zhao, Rongjuan; Andrews, Jonathan C.; Nowakowski, Tomasz J.; Gillentine, Madelyn A.; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein H.; van Bon, Bregje W.; Rinne, Tuula; Stevens, Servi J. C.; Kleefstra, Tjitske; Brunner, Han G.; Yntema, Helger G.; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles E.; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta U.; Erwin, Deanna J.; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Herman, Kristin; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy B.; Abou Jamra, Rami; Buettner, Benjamin; Mefford, Heather C.; Muir, Alison M.; Scheffer, Ingrid E.; Regan, Brigid M.; Malone, Stephen; Gecz, Jozef; Cobben, Jan; Weiss, Marjan M.; Waisfisz, Quinten; Bijlsma, Emilia K.; Hoffer, Mariette J., V; Ruivenkamp, Claudia A. L.; Sartori, Stefano; Xia, Fan; Rosenfeld, Jill A.; Bernier, Raphael A.; Wangler, Michael F.; Yamamoto, Shinya; Xia, Kun; Stegmann, Alexander P. A.; Bellen, Hugo J.; Murgia, Alessandra; Eichler, Evan E.; Nickerson, Deborah A.; Bamshad, Michael J.
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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
err2019-09-06
err30
errOAAI
errGuo, Hui; Li, Ying; Shen, Lu; Wang, Tianyun; Jia, Xiangbin; Liu, Lijuan; Xu, Tao; Ou, Mengzhu; Hoekzema, Kendra; Wu, Huidan; Gillentine, Madelyn A.; Liu, Cenying; Ni, Hailun; Peng, Pengwei; Zhao, Rongjuan; Zhang, Yu; Phornphutkul, Chanika; Stegmann, Alexander P. A.; Prada, Carlos E.; Hopkin, Robert J.; Shieh, Joseph T.; McWalter, Kirsty; Monaghan, Kristin G.; van Hasselt, Peter M.; van Gassen, Koen; Bai, Ting; Long, Min; Han, Lin; Quan, Yingting; Chen, Meilin; Zhang, Yaowen; Li, Kuokuo; Zhang, Qiumeng; Tan, Jieqiong; Zhu, Tengfei; Liu, Yaning; Pang, Nan; Peng, Jing; Scott, Daryl A.; Lalani, Seema R.; Azamian, Mahshid; Mancini, Grazia M. S.; Adams, Darius J.; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Pevsner, Jonathan; Osei-Owusu, Ikeoluwa A.; Romano, Corrado; Calabrese, Giuseppe; Galesi, Ornella; Gecz, Jozef; Haan, Eric; Ranells, Judith; Racobaldo, Melissa; Nordenskjold, Magnus; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Ball, Susie; Zou, Xiaobing; Zhao, Jingping; Hu, Zhengmao; Xia, Fan; Liu, Pengfei; Rosenfeld, Jill A.; de Vries, Bert B. A.; Bernier, Raphael A.; Xu, Zhi-Qing David; Li, Honghui; Xie, Wei; Hufnagel, Robert B.; Eichler, Evan E.; Xia, Kun
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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
err2018-12-13
err117
errOAAI
errGuo, Hui; Wang, Tianyun; Wu, Huidan; Long, Min; Coe, Bradley P.; Li, Honghui; Xun, Guanglei; Ou, Jianjun; Chen, Biyuan; Duan, Guiqin; Bai, Ting; Zhao, Ningxia; Shen, Yidong; Li, Yun; Wang, Yazhe; Zhang, Yu; Baker, Carl; Liu, Yanling; Pang, Nan; Huang, Lian; Han, Lin; Jia, Xiangbin; Liu, Cenying; Ni, Hailun; Yang, Xinyi; Xia, Lu; Chen, Jingjing; Shen, Lu; Li, Ying; Zhao, Rongjuan; Zhao, Wenjing; Peng, Jing; Pan, Qian; Long, Zhigao; Su, Wei; Tan, Jieqiong; Du, Xiaogang; Ke, Xiaoyan; Yao, Meiling; Hu, Zhengmao; Zou, Xiaobing; Zhao, Jingping; Bernier, Raphael A.; Eichler, Evan E.; Xia, Kun
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Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort
err2017-03-10
err89
errOAAI
errGuo, Hui; Peng, Yu; Hu, Zhengmao; Li, Ying; Xun, Guanglei; Ou, Jianjun; Sun, Liangdan; Xiong, Zhimin; Liu, Yanling; Wang, Tianyun; Chen, Jingjing; Xia, Lu; Bai, Ting; Shen, Yidong; Tian, Qi; Hu, Yiqiao; Shen, Lu; Zhao, Rongjuan; Zhang, Xuejun; Zhang, Fengyu; Zhao, Jingping; Zou, Xiaobing; Xia, Kun
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