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Title
RettBASE: Rett syndrome database update
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 38, Issue 8, Pages 922-931
Publisher
Wiley
Online
2017-05-26
DOI
10.1002/humu.23263
References
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Related references
Note: Only part of the references are listed.- Functional outcomes in Rett syndrome
- (2016) Frank S. Pidcock et al. BRAIN & DEVELOPMENT
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- (2014) Vishnu Anand Cuddapah et al. JOURNAL OF MEDICAL GENETICS
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Oligodendrocyte Lineage Cells Contribute Unique Features to Rett Syndrome Neuropathology
- (2013) M. V. C. Nguyen et al. JOURNAL OF NEUROSCIENCE
- The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
- (2012) Stephanie Fehr et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
- (2011) F. Kortum et al. JOURNAL OF MEDICAL GENETICS
- A role for glia in the progression of Rett’s syndrome
- (2011) Daniel T. Lioy et al. NATURE
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- Epilepsy caused by CDKL5 mutations
- (2010) Maija Castrén et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- A method and server for predicting damaging missense mutations
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- A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder
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- (2009) M. A. Mencarelli et al. JOURNAL OF MEDICAL GENETICS
- 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
- (2009) B. B. Zeev et al. NEUROLOGY
- Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
- (2008) J. L. Neul et al. NEUROLOGY
- MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
- (2008) M. Chahrour et al. SCIENCE
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