Rett syndrome: revised diagnostic criteria and nomenclature
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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesPathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndromeNew Insights on Astrocyte Ion Channels: Critical for Homeostasis and Neuron-Glia SignalingExcitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum DisordersThe Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett SyndromeManagement of epilepsy in patients with Rett syndrome: perspectives and considerationsMeCP2 post-translational modifications: a mechanism to control its involvement in synaptic plasticity and homeostasis?Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunctionBDNF deregulation in Rett syndromeTargeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromesMeCP2 Affects Skeletal Muscle Growth and Morphology through Non Cell-Autonomous MechanismsVascular dysfunction in a mouse model of Rett syndrome and effects of curcumin treatmentRett Syndrome: Reaching for Clinical TrialsRett syndrome - biological pathways leading from MECP2 to disorder phenotypesEpigenetic mechanisms in diurnal cycles of metabolism and neurodevelopmentRett syndrome: disruption of epigenetic control of postnatal neurological functionsWhat we know and would like to know about CDKL5 and its involvement in epileptic encephalopathyThe CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyMeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female ratsRole of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Unexpected cellular players in Rett syndrome pathologyLoss of MeCP2 in cholinergic neurons causes part of RTT-like phenotypes via α7 receptor in hippocampusLoss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.Automatic cortical representation of auditory pitch changes in Rett syndrome.Activities that girls and women with Rett syndrome liked or did not like to do.Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function.Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue MiceComparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome.Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndromeContributing to the early detection of Rett syndrome: the potential role of auditory Gestalt perceptionMorphological and functional reversal of phenotypes in a mouse model of Rett syndrome.Preclinical research in Rett syndrome: setting the foundation for translational success.Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome.Developmental delay in Rett syndrome: data from the natural history study.Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotypeWhole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.A diagnostic approach for cerebral palsy in the genomic era.Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expressionChoice making in Rett syndrome: a descriptive study using video data.Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study.
P2860
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P2860
Rett syndrome: revised diagnostic criteria and nomenclature
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Rett syndrome: revised diagnostic criteria and nomenclature
@ast
Rett syndrome: revised diagnostic criteria and nomenclature
@en
Rett syndrome: revised diagnostic criteria and nomenclature
@nl
type
label
Rett syndrome: revised diagnostic criteria and nomenclature
@ast
Rett syndrome: revised diagnostic criteria and nomenclature
@en
Rett syndrome: revised diagnostic criteria and nomenclature
@nl
prefLabel
Rett syndrome: revised diagnostic criteria and nomenclature
@ast
Rett syndrome: revised diagnostic criteria and nomenclature
@en
Rett syndrome: revised diagnostic criteria and nomenclature
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Rett syndrome: revised diagnostic criteria and nomenclature
@en
P2093
Alan K Percy
Angus J Clarke
Daniel G Glaze
Helen Leonard
Mark E S Bailey
Michele Zappella
N Carolyn Schanen
Peter Huppke
Walter E Kaufmann
P2860
P304
P3181
P356
10.1002/ANA.22124
P407
P577
2010-12-01T00:00:00Z