标题
RettBASE: Rett syndrome database update
作者
关键词
-
出版物
HUMAN MUTATION
Volume 38, Issue 8, Pages 922-931
出版商
Wiley
发表日期
2017-05-26
DOI
10.1002/humu.23263
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Functional outcomes in Rett syndrome
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- miR-199a Links MeCP2 with mTOR Signaling and Its Dysregulation Leads to Rett Syndrome Phenotypes
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- Methyl-CpG-binding protein 2(MECP2) mutation type is associated with disease severity in Rett syndrome
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- The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
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- Epilepsy caused by CDKL5 mutations
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- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder
- (2009) Stavroula Psoni et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
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- Non–cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology
- (2009) Nurit Ballas et al. NATURE NEUROSCIENCE
- The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome
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- Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
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- MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
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