Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome - Wikidata - wikimedia - TriplyDB

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

http://www.wikidata.org/entity/Q35492500

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Developmental Dynamics of Rett Syndrome Rett Syndrome: Crossing the Threshold to Clinical Translation Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction Illness 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 Trials Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence Unexpected cellular players in Rett syndrome pathology Developmental 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 females There 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 transgene Genotype-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 pain Age 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 Scale Longitudinal course of epilepsy in Rett syndrome and related disorders.Rett Syndrome: A Focus on Gut Microbiota The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome Developmental trajectories as autism phenotypes Caretaker 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 trials Rett 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

http://www.wikidata.org/entity/Q35492500

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2014 nî lūn-bûn

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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2014年の論文

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2014年論文

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2014年論文

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2014年论文

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Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome

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Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome

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Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome

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Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome

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Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome

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JMEDGENET-2013-102113

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Journal of Medical Genetics

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Methyl-CpG-binding protein 2 ( ...... ease severity in Rett syndrome

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Alan K Percy

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Daniel G Glaze

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Gerald McGwin

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Jane B Lane

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Jeffrey L Neul

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Kathleen J Motil

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Kiran V Shekar

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Rajesh B Pillai

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Steven A Skinner

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Walter E Kaufmann

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P2860

Rett syndrome: revised diagnostic criteria and nomenclature

Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

FOXG1 is responsible for the congenital variant of Rett syndrome

MeCP2, a key contributor to neurological disease, activates and represses transcription

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

What's wrong with Bonferroni adjustments.

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

Epilepsy and the natural history of Rett syndrome.

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.

Seizures in Rett syndrome: an overview from a one-year calendar study

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152-158

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10.1136/JMEDGENET-2013-102113

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3

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51

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Michelle L. Olsen

Daniel Tarquinio

Vishnu Anand Cuddapah

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2014-01-07T00:00:00Z

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259628004

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24399845

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