Not logged inAnalysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population
Xing, Yingming; Zhao, Lingqian; Zhao, Renlong; Liu, Qiyun; Wang, Juan; Wang, Le; Zhang, Wei; Guo, Junhong; Zhao, Rongjuan; Chang, Xueli
Share
Save
Share
SaveThe Relationship Between Ribosome-Associated Quality Control and Neurological Disorders
Wang, Juan; Wang, Jianhua; Cao, Hanshuai; Xing, Yingming; Wang, Zhuoran; Ma, Jing; Zhao, Rongjuan; Zhang, Wei; Guo, Junhong; Chang, Xueli
Share
SaveEfgartigimod versus intravenous immunoglobulin in the treatment of patients with impending myasthenic crisis
Ma, 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
Share
SaveRelative frequencies and clinical features of Guillain-Barré Syndrome before and during the COVID-19 pandemic in North China
Li, 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
Share
SaveThe male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis
Ma, Jing; Zhang, Huiqiu; Liang, Feng; Li, Guanxi; Pang, Xiaomin; Zhao, Rongjuan; Wang, Juan; Chang, Xueli; Guo, Junhong; Zhang, Wei
Share
SaveCGG Repeat Expansion in NOTCH2NLC Causing Overlapping Oculopharyngodistal Myopathy and Neuronal Intranuclear Inclusion Disease With Diffusion Weighted Imaging Abnormality in the Cerebellum
Ma, Jing; Zhang, Huiqiu; Meng, Bing; Qin, Jiangbo; Liu, Hongye; Pang, Xiaomin; Zhao, Rongjuan; Wang, Juan; Guo, Junhong; Zhang, Wei
Share
Save
Share
SaveRare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping
Liu, Yalan; Shen, Lu; Zhang, Yaowen; Zhao, Rongjuan; Liu, Cenying; Luo, Sanchuan; Chen, Jingjing; Xia, Lu; Li, Taoxi; Peng, Yu; Xia, Kun
Share
SaveThe autism risk gene CNTN4 modulates dendritic spine formation
Zhao, Rongjuan; Zhu, Tengfei; Liu, Qiong; Tian, Qi; Wang, Meng; Chen, Jingjing; Tong, Dali; Yu, Bin; Guo, Hui; Xia, Kun; Qiu, Zilong; Hu, Zhengmao
Share
SaveBiallelic loss-of-function variants inNEMFcause central nervous system impairment and axonal polyneuropathy
Ahmed, 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
Share
SaveDisruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Guo, 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.
Share
SaveDisruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Guo, 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
Share
SaveInherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Guo, 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
Share
SaveGenome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort
Guo, 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
Share
Save