Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021

Authors: Lei Zhao, Yiyun Shi, Chaoping Hu, Shuizhen Zhou, Hui Li, Lifeng Zhang, Chuang Qian, Yiyao Zhou, Yi Wang, Xihua Li

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)

Subject Terms: Dystrophinopathy, Duchenne and Becker muscular dystrophies, Patient management, Genetic diagnosis, Natural history, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/8fd76d0fd1ba47dc87e19f85ef69c1ed

Safety analysis of laboratory parameters in paediatric patients with spinal muscular atrophy treated with nusinersen

Authors: Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui Li

Source: BMC Pediatrics, Vol 24, Iss 1, Pp 1-9 (2024)

Subject Terms: Nusinersen, Side effects, Laboratory parameters, Spinal muscular atrophy, Safety, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/81f532f8f60c441cbab432fa493452e5

Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report

Authors: Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui Li

Source: BMC Neurology, Vol 23, Iss 1, Pp 1-5 (2023)

Subject Terms: Spinal muscular atrophy (SMA), Hypoplasia of the corpus callosum, Dysmorphism, Nusinersen, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://doaj.org/toc/1471-2377

Access URL: https://doaj.org/article/64b2f80af12a48ad8e421d03d4815d50

Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype–Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype

Authors: Yinmo Jiang, Bingbing Wu, Xi Zhang, Lin Yang, Sujuan Wang, Huiping Li, Shuizhen Zhou, Yanyan Qian, Huijun Wang

Source: Children, Vol 11, Iss 8, p 897 (2024)

Subject Terms: neurodevelopmental disorders, protein phosphatase 2A, Houge–Janssens syndrome 1, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9067/11/8/897; https://doaj.org/toc/2227-9067

Access URL: https://doaj.org/article/030f7586661749f59d1895380dc50193

Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients

Authors: 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

Source: Frontiers in Pediatrics, Vol 11 (2023)

Subject Terms: neurodevelopmental disorders (NDDs), exome sequencing, EBF3 gene, novel variants, copy number variations (CNVs), Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1091532/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/973b5253555a4ee8948d740b749af302

A Hybrid Expert System for Individualized Quantification of Electrical Status Epilepticus During Sleep Using Biogeography-Based Optimization

Authors: Wei Zhou, Xian Zhao, Xinhua Wang, Yuanfeng Zhou, Yalin Wang, Long Meng, Jiahao Fan, Ning Shen, Shuizhen Zhou, Wei Chen, Chen Chen

Source: IEEE Transactions on Neural Systems and Rehabilitation Engineering, Vol 30, Pp 1920-1930 (2022)

Subject Terms: Biogeography-based optimization, electroencephalography, electrical status epilepticus during sleep, Medical technology, R855-855.5, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://ieeexplore.ieee.org/document/9809996/; https://doaj.org/toc/1558-0210

Access URL: https://doaj.org/article/0f5dd5f96f1545bba1528c3c7ee46605

Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China

Authors: Chaoping Hu, Xihua Li, Yiyun Shi, Xiaomei Zhu, Lei Zhao, Wenhui Li, Shuizhen Zhou, Yi Wang

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: spinal muscular atrophy, survival motor neuron, survival analysis, pattern, motor deterioration, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1038012/full; https://doaj.org/toc/1664-2295

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Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans

Authors: 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

Source: Neurobiology of Disease, Vol 172, Iss , Pp 105810- (2022)

Subject Terms: SLC6A1, GABA transporter 1 (GAT-1), Protein misfolding, Myoclonic atonic epilepsy (MAE), Endoplasmic reticulum (ER), Astrocytes, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

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Relation: http://www.sciencedirect.com/science/article/pii/S0969996122002029; https://doaj.org/toc/1095-953X

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Unrelated umbilical cord blood transplantation for children with hereditary leukodystrophy: A retrospective study

Authors: Ping Wang, Xiaonan Du, Quanli Shen, Wenjin Jiang, Chen Shen, Hongsheng Wang, Shuizhen Zhou, Yi Wang, Xiaowen Qian, Xiaowen Zhai

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: leukodystrophy, hereditary, umbilical cord blood, transplantation, inherited metabolic disease, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.999919/full; https://doaj.org/toc/1664-2295

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Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric case–control study

Authors: Yifeng Ding, Ji Wang, Hao Zhou, Taoli Li, Shuizhen Zhou, Yi Wang

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)

Subject Terms: TSC, TAND, Child, MINI-KID, ADHD, Psychiatric disorders, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/7dcf36a6ae014c7984723ca2f2683e56

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants

Authors: Wenhui Li, Min Zhang, Linmei Zhang, Yiyun Shi, Lei Zhao, Bingbing Wu, Xihua Li, Shuizhen Zhou

Source: BMC Neurology, Vol 20, Iss 1, Pp 1-7 (2020)

Subject Terms: Congenital myasthenic syndrome, SLC25A1, D-2- and L-2-hydroxyglutaric aciduria, Phenotype, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-020-01854-6; https://doaj.org/toc/1471-2377

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Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients

Authors: Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Xihua Li

Source: Frontiers in Pediatrics, Vol 9 (2021)

Subject Terms: myotonia congenita, CLCN1 gene, mutations, genotype, phenotype, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.759505/full; https://doaj.org/toc/2296-2360

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The ketogenic diet for paediatric patients with super-refractory status epilepticus in febrile infection-related epilepsy syndrome

Authors: Xinhua Wang, Xuan Gao, Guoping Lu, Zhongying Lu, Shuizhen Zhou, Yi Wang, Yuanfeng Zhou

Source: Acta Epileptologica, Vol 2, Iss 1, Pp 1-7 (2020)

Subject Terms: Ketogenic diet, Paediatric, Super-refractory status epilepticus, Febrile infection-related epilepsy syndrome, Neurology. Diseases of the nervous system, RC346-429

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Relation: http://link.springer.com/article/10.1186/s42494-020-00013-1; https://doaj.org/toc/2524-4434

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Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine

Authors: Gang Pan, Linmei Zhang, Shuizhen Zhou

Source: BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)

Subject Terms: Clinical features, OXC, PKD, PRRT2, Treatment, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-019-1798-7; https://doaj.org/toc/1471-2431

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Immunotherapies for Anti-N-M-methyl-D-aspartate Receptor Encephalitis: Multicenter Retrospective Pediatric Cohort Study in China

Authors: Shiqi Guang, Jiannan Ma, Xiaotun Ren, Shuizhen Zhou, Jian Yang, Jianzhao Zhang, Xiaoshuang Cao, Linxiu Zhong, Xiao Ding, Xiaosu Wang, Changhong Ren, Weihua Zhang, Linmei Zhang, Min Zhang, Jing Sun, Miriam Kessi, Fei Yin, Jing Peng, Yuwu Jiang

Source: Frontiers in Pediatrics, Vol 9 (2021)

Subject Terms: N-methyl-D-aspartate receptor, anti-NMDAR encephalitis, autoimmune encephalitis, pediatrics, immunotherapy, prognosis, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.691599/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/3d8819c6e65f43488edb3a10bb1eb341

Clinical and Neuroimaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis With and Without Antibodies to Myelin Oligodendrocyte Glycoprotein

Authors: Min Zhang, Jin Shen, Shuizhen Zhou, Xiaonan Du, Wenhui Li, Lifei Yu, Yunjian Zhang, Yi Wang, Linmei Zhang

Source: Frontiers in Neurology, Vol 11 (2020)

Subject Terms: myelin oligodendrocyte glycoprotein antibody, MOG, Acute disseminating encephalomyelitis, pediatric, myelin oligodendrocyte glycoprotein, ADEM, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.593287/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/545191ae7e5b4db6bf094741fba9e999

Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China

Authors: Chaoping Hu, Xihua Li, Lei Zhao, Yiyun Shi, Shuizhen Zhou, Yi Wang

Source: Frontiers in Neurology, Vol 11 (2020)

Subject Terms: mitochondrial myopathy, gene mutation, treatment, cytochrome-c oxidase, pathology, Neurology. Diseases of the nervous system, RC346-429

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Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.01000/full; https://doaj.org/toc/1664-2295

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One-Stage High-Density Focal Stereo-Array SEEG-Guided Radiofrequency Thermocoagulation for the Treatment of Pediatric Giant Hypothalamic Hamartomas

Authors: Min Wang, Yuanfeng Zhou, Yi Zhang, Wei Shi, Shuizhen Zhou, Yi Wang, Hao Li, Rui Zhao

Source: Frontiers in Neurology, Vol 11 (2020)

Subject Terms: children, stereoelectroencephalography, hypothalamic hamartoma, radiofrequency thermocoagulation, treatment, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00965/full; https://doaj.org/toc/1664-2295

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Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population

Authors: Xiu-Yu Shi, Geng Wang, Ting Li, Zhixiu Li, Paul Leo, Zhisheng Liu, Gefei Wu, Hongmin Zhu, Yuqin Zhang, Dong Li, Li Gao, Liu Yang, Wei Wang, Jianxiang Liao, Jiwen Wang, Shuizhen Zhou, Hua Wang, Xiaojing Li, Jingyun Gao, Li Zhang, Xiaomei Shu, Dan Li, Yan Li, Chunhong Chen, Xiuju Zhang, Gabriel Cuellar Partida, Mischa Lundberg, David Reutens, Perry Bartlett, Matthew A Brown, Li-Ping Zou, Huji Xu

Source: EBioMedicine, Vol 57, Iss , Pp 102840- (2020)

Subject Terms: GWAS, BECTS, Epilepsy, Heritability, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396420302152; https://doaj.org/toc/2352-3964

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Clinical Characteristic Analysis of Seven Children With Bickerstaff Brainstem Encephalitis in China

Authors: Yifeng Ding, Lifei Yu, Shuizhen Zhou, Linmei Zhang

Source: Frontiers in Neurology, Vol 11 (2020)

Subject Terms: Bickerstaff brainstem encephalitis, pediatric, clinical characteristics, anti-GQ1b antibody, China, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00557/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/994d2709acb447c9b4db2982186fa508