Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Shuizhen Zhou"'
Autor:
Lei Zhao, Yiyun Shi, Chaoping Hu, Shuizhen Zhou, Hui Li, Lifeng Zhang, Chuang Qian, Yiyao Zhou, Yi Wang, Xihua Li
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background An increasing number of clinical trials for new therapeutic strategies are underway or being considered for dystrophinopathy. Having detailed data on the natural progression of this condition is crucial for assessing the effective
Externí odkaz:
https://doaj.org/article/8fd76d0fd1ba47dc87e19f85ef69c1ed
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Spinal muscular atrophy (SMA) is a progressive neurodegenerative disorder that can be treated with intrathecal nusinersen, an antisense oligonucleotide. In addition to efficacy, safety is a determining factor in the success of any
Externí odkaz:
https://doaj.org/article/81f532f8f60c441cbab432fa493452e5
Autor:
Yinmo Jiang, Bingbing Wu, Xi Zhang, Lin Yang, Sujuan Wang, Huiping Li, Shuizhen Zhou, Yanyan Qian, Huijun Wang
Publikováno v:
Children, Vol 11, Iss 8, p 897 (2024)
Background: Neurodevelopmental disorders (NDDs) are a group of diseases that severely affect the physical and mental health of children. The PPP2R5D gene encodes B56δ, the regulatory subunit of protein phosphatase 2A (PP2A). NDDs related to the PPP2
Externí odkaz:
https://doaj.org/article/030f7586661749f59d1895380dc50193
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-5 (2023)
Abstract Background Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Hypoplasia of the corpus callosum is underdevelopment or thinness of the corpus callosum. SMA and callosa
Externí odkaz:
https://doaj.org/article/64b2f80af12a48ad8e421d03d4815d50
Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients
Autor:
Jitao Zhu, Wenhui Li, Sha Yu, Wei Lu, Qiong Xu, Sujuan Wang, Yanyan Qian, Qiufang Guo, Suzhen Xu, Yao Wang, Ping Zhang, Xuemei Zhao, Qi Ni, Renchao Liu, Xu Li, Bingbing Wu, Shuizhen Zhou, Huijun Wang
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Neurodevelopmental disorders (NDDs) have heterogeneity in both clinical characteristics and genetic factors. EBF3 is a recently discovered gene associated with a syndromic form of NDDs characterized by hypotonia, ataxia and facial features. In this s
Externí odkaz:
https://doaj.org/article/973b5253555a4ee8948d740b749af302
Autor:
Wei Zhou, Xian Zhao, Xinhua Wang, Yuanfeng Zhou, Yalin Wang, Long Meng, Jiahao Fan, Ning Shen, Shuizhen Zhou, Wei Chen, Chen Chen
Publikováno v:
IEEE Transactions on Neural Systems and Rehabilitation Engineering, Vol 30, Pp 1920-1930 (2022)
Electrical status epilepticus during sleep (ESES) is an epileptic encephalopathy in children with complex clinical manifestations. It is accompanied by specific electroencephalography (EEG) patterns of continuous spike and slow-waves. Quantifying suc
Externí odkaz:
https://doaj.org/article/0f5dd5f96f1545bba1528c3c7ee46605
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundThere is a large population of people with spinal muscular atrophy (SMA) in China, and new disease-modifying therapies have become available recently. However, comprehensive data on the management and profile of treatment-naive SMA patients
Externí odkaz:
https://doaj.org/article/a688e9f9cbfb4a16b81bdf7d7ac1a227
Autor:
Felicia Mermer, Sarah Poliquin, Shuizhen Zhou, Xiaodong Wang, Yifeng Ding, Fei Yin, Wangzhen Shen, Juexin Wang, Kathryn Rigsby, Dong Xu, Taralynn Mack, Gerald Nwosu, Carson Flamm, Matthew Stein, Jing-Qiong Kang
Publikováno v:
Neurobiology of Disease, Vol 172, Iss , Pp 105810- (2022)
Objective: Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1 have been associated with myoclonic atonic epilepsy and other phenotypes. We determined the patho-mechanisms of the mutant GAT-1, in order to identify treatment
Externí odkaz:
https://doaj.org/article/d1f63b8a4f894bc59d7315bb22010afa
Autor:
Ping Wang, Xiaonan Du, Quanli Shen, Wenjin Jiang, Chen Shen, Hongsheng Wang, Shuizhen Zhou, Yi Wang, Xiaowen Qian, Xiaowen Zhai
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
ObjectiveTo analyze the efficiency of unrelated umbilical cord blood transplantation (UCBT) in the treatment of hereditary leukodystrophy following busulfan- and cyclophosphamide-based myeloablative chemotherapy.MethodsA retrospective study was perfo
Externí odkaz:
https://doaj.org/article/55cfdfc85ee143c5bb4dc4ff3f9d96fc
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Background The tuberous sclerosis-associated neuropsychiatric disorders (TAND) have not previously been studied in China. We aimed to assess the psychiatric level of individuals with TAND using the Mini International Neuropsychiatric Intervi
Externí odkaz:
https://doaj.org/article/7dcf36a6ae014c7984723ca2f2683e56