Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Cuijie Wei"'
Publikováno v:
Heliyon, Vol 10, Iss 5, Pp e26089- (2024)
Background: Intraneural perineurioma is a rare, benign slow-growing lesion that usually involves a single main trunk nerve during childhood and young adulthood. The treatment of intraneural perineurioma is still a subject of controversy, especially i
Externí odkaz:
https://doaj.org/article/6a01704db3644e4ab3a1d1c0bd6b58ae
Autor:
Cuijie Wei, Zhenwei Liang, Ying Wu, Shan Liu, Jianxing Qiu, Lingchao Meng, Chunde Li, Shuang Li, Xinhua Bao, Zhaoxia Wang, Luzeng Chen, Hui Xiong
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Intrathecal injection of medications can be challenging in spinal muscular atrophy (SMA) patients with severe scoliosis or after spine surgery. Here we report our experience with real-time ultrasound (US)-guided intrathecal admini
Externí odkaz:
https://doaj.org/article/f26d041b305847d689243ad170d41703
Autor:
Xiuli Huang, Dandan Tan, Zaiqiang Zhang, Lin Ge, Jieyu Liu, Juan Ding, Haipo Yang, Cuijie Wei, Xingzhi Chang, Yun Yuan, Chuanzhu Yan, Hui Xiong
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundLAMA2-related limb girdle muscular dystrophy (LGMD R23) is rare. The detailed clinical phenotypes and genetic information associated with LGMD R23 are unknown.MethodsWe conducted a retrospective cross-sectional and longitudinal study on 19
Externí odkaz:
https://doaj.org/article/90dc4a79fbf54bb79e048204f4e0f6ac
Autor:
Yu Zhang, Hui Yan, Jieyu Liu, Huifang Yan, Yinan Ma, Cuijie Wei, Zhaoxia Wang, Hui Xiong, Xingzhi Chang
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-13 (2022)
Abstract Background Congenital myopathies are a group of rare neuromuscular diseases characterized by specific histopathological features. The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-caus
Externí odkaz:
https://doaj.org/article/18c61635d4ab41f2b8a8be123fbb3018
Autor:
Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu, Bing Mao, Bo Jin, Ying Hua, Xiaoli Zhang, Bingbing Zhang, Wenhua Zhu, Cheng Zhang, Yanjuan Wang, Yun Yuan, Yuwu Jiang, Anne Rutkowski, Carsten G. Bönnemann, Xiru Wu, Hui Xiong
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background LAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2-CMD) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by LAMA2 pathogenic variants. We aimed to describe th
Externí odkaz:
https://doaj.org/article/8892783cf04943d1b85add59cb689c91
Autor:
XiuShan Ge, CuiJie Wei, Hui Dong, YueHua Zhang, XinHua Bao, Ye Wu, DanYu Song, HongJun Hao, Hui Xiong
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Myasthenia gravis is an autoimmune disease mediated by B cells and is associated with acetylcholine receptor (AChR) and muscle-specific receptor tyrosine kinase (MuSK) antibodies in the postsynaptic membrane at the neuromuscular junction. The presenc
Externí odkaz:
https://doaj.org/article/fa48b6b9707b4921b6c5dbc483896ff3
Autor:
Xingzhi Chang, Risheng Wei, Cuijie Wei, Jieyu Liu, Lun Qin, Hui Yan, Yinan Ma, Zhaoxia Wang, Hui Xiong
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
IntroductionNext generation sequencing results in an explosive identification of rare variants of RYR1, making the correlation between phenotype and genotype complicated. We analyzed the data of 33 patients with RYR1-related myopathy, attempting to e
Externí odkaz:
https://doaj.org/article/b0b285f960474f67b96bf89d631f8761
Autor:
Shu Zhang, Dongdong Qin, Liwen Wu, Man Li, Lifang Song, Cuijie Wei, Chunling Lu, Xiaoli Zhang, Siqi Hong, Mingming Ma, Shiwen Wu, National DMD Research Network of “One City, One Doctor”
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease in human. We aimed to describe the genotype distribution in a large cohort of Chinese DMD patients and their delayed loss of ambulation by glucocorticoid
Externí odkaz:
https://doaj.org/article/ebffccd9db87421fa39677811591e0ed
Autor:
Beiyu Xu, Cuijie Wei, Xiao Hu, Wenzhu Li, Zhen Huang, Chengli Que, Jianxing Qiu, Chunde Li, Hui Xiong
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive disorder caused by pathogenic variation of the survival motor neuron (SMN) 1 gene. Symptoms of SMA include progressive limb muscle weakness, atrophy, and severe scoliosis. Nusinersen i
Externí odkaz:
https://doaj.org/article/f5f77f202d3e4372b05db3741dfc1ba0
Autor:
Yanbin Fan, Zhifei Xu, Xing Li, Feng Gao, Enyu Guo, Xingzhi Chang, Cuijie Wei, Cheng Zhang, Qing Yu, Chengli Que, Jiangxi Xiao, Chuanzhu Yan, Zhaoxia Wang, Yun Yuan, Hui Xiong
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Congenital muscular dystrophy with early rigid spine, also known as the rigid spine with muscular dystrophy type 1 (RSMD1), is caused by SEPN1 mutation. We investigated the clinical manifestations, pathological features, and genetic characteristics o
Externí odkaz:
https://doaj.org/article/013f367e54c041e3a4552cf9becf0978