Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
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Developmental Dynamics of Rett SyndromeRett Syndrome: Crossing the Threshold to Clinical TranslationAbnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunctionIllness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1).Rett Syndrome: Reaching for Clinical TrialsClinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available EvidenceUnexpected cellular players in Rett syndrome pathologyDevelopmental delay in Rett syndrome: data from the natural history study.Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study.Repeated insulin-like growth factor 1 treatment in a patient with rett syndrome: a single case study.Twenty years of surveillance in Rett syndrome: what does this tell us?Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes.What you seize is what you get: do we yet understand epilepsy in rett syndrome?Pubertal development in Rett syndrome deviates from typical femalesThere is variability in the attainment of developmental milestones in the CDKL5 disorder.The trajectories of sleep disturbances in Rett syndrome.Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgeneGenotype-specific effects of Mecp2 loss-of-function on morphology of Layer V pyramidal neurons in heterozygous female Rett syndrome model mice.Epigenetic regulation of chronic painAge of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis.Validating the Rett Syndrome Gross Motor Scale.Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales.The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression ScaleLongitudinal course of epilepsy in Rett syndrome and related disorders.Rett Syndrome: A Focus on Gut MicrobiotaThe molecular basis of variable phenotypic severity among common missense mutations causing Rett syndromeDevelopmental trajectories as autism phenotypesCaretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations.Altered gut microbiota in Rett syndrome.Progress in Rett Syndrome: from discovery to clinical trialsRett syndrome: a wide clinical and autonomic picture.From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.Neurobiologically-based treatments in Rett syndrome: opportunities and challenges.Rett syndrome: a complex disorder with simple roots.The Role of Noncoding RNAs in Neurodevelopmental Disorders: The Case of Rett Syndrome.Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.Detecting autonomic response to pain in Rett syndrome.The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study.
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Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome
@ast
Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome
@en
type
label
Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome
@ast
Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome
@en
prefLabel
Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome
@ast
Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome
@en
P2093
P2860
P50
P1476
Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome
@en
P2093
Alan K Percy
Daniel G Glaze
Gerald McGwin
Jane B Lane
Jeffrey L Neul
Kathleen J Motil
Kiran V Shekar
Rajesh B Pillai
Steven A Skinner
Walter E Kaufmann
P2860
P304
P356
10.1136/JMEDGENET-2013-102113
P407
P577
2014-01-07T00:00:00Z