Rett syndrome diagnostic criteria: Lessons from the Natural History Study

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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Untitled work

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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

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Specific mutations in <i>Methyl-CpG-Binding Protein 2</i> confer different severity in Rett syndrome

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Diagnostic criteria for rett syndrome

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An update on clinically applicable diagnostic criteria in Rett syndrome

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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

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Rett syndrome: Criteria for inclusion and exclusion

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

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Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

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Rett variants: A suggested model for inclusion criteria

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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

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Rett Syndrome: North American Database

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Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

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Multiplex Ligation-Dependent Probe Amplification (MLPA) Detects Large Deletions in the MECP2 Gene of Swedish Rett Syndrome Patients

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Rett syndrome: a complex disorder with simple roots

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Progress toward treatments for synaptic defects in autism

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Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome

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Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study

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The Molecular Basis of MeCP2 Function in the Brain

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Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

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Consensus guidelines on managing Rett syndrome across the lifespan

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Functional connectivity in the first year of life in infants at-risk for autism: a preliminary near-infrared spectroscopy study

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PTP1B inhibition suggests a therapeutic strategy for Rett syndrome

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Site-directed RNA repair of endogenous Mecp2 RNA in neurons

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A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome

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A double-blind, randomized, placebo-controlled clinical study of trofinetide in the treatment of fragile X syndrome

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Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease

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Dendrimer-mediated delivery of N-acetyl cysteine to microglia in a mouse model of Rett syndrome

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The course of awake breathing disturbances across the lifespan in Rett syndrome

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Epilepsy and genetic in Rett syndrome: A review

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Clinical severity and quality of life in children and adolescents with Rett syndrome

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Regression in Rett syndrome: Developmental pathways to its onset

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Improving Treatment Trial Outcomes for Rett Syndrome

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Rett syndrome

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The Crucial Role of DNA Methylation and MeCP2 in Neuronal Function

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Early alterations in a mouse model of Rett syndrome: the GABA developmental shift is abolished at birth

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Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome

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Mitochondrial functions and rare diseases

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Social Preferences in Rett Syndrome

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Perineuronal net degradation rescues CA2 plasticity in a mouse model of Rett syndrome

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Brief Report: MECP2 Mutations in People Without Rett Syndrome

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Current developments in the genetics of Rett and Rett-like syndrome

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Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome

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Analysis of the Phenotypes in the Rett Networked Database

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Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors

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Hand stereotypies

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Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene

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Human urine-derived stem cell-derived exosomal miR-21-5p promotes neurogenesis to attenuate Rett syndrome via the EPha4/TEK axis

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Rett Syndrome: Reaching for Clinical Trials

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MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats

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Auditory sensory memory span for duration is severely curtailed in females with Rett syndrome

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Progress in Rett Syndrome: from discovery to clinical trials

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Differential brain region‐specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey‐white matter variation

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Contributing to the early detection of Rett syndrome: The potential role of auditory Gestalt perception

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Evaluation of Current Pharmacological Treatment Options in the Management of Rett Syndrome: From the Present to Future Therapeutic Alternatives.

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Recent Progress In Rett Syndrome and Mecp2 Dysfunction: Assessment of Potential Treatment Options

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A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

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Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome

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Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors

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A review of the Rett Syndrome Behaviour Questionnaire and its utilization in the assessment of symptoms associated with Rett syndrome

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De novo SHANK3 mutation causes Rett syndrome‐like phenotype in a female patient

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Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

Ward, C. S., Huang, T.-W., Herrera, J. A., Samaco, R. C., Pitcher, M. R., Herron, A. J., Skinner, S. A., Kaufmann, W. E., Glaze, D. G., Percy, A. K., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0165550 · Cited by 28 · see citing works

Spoken word processing in Rett syndrome: Evidence from event‐related potentials

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Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways

Aldosary, M. S., AlBakheet, A., Aldhalaan, H., Almass, R., Alsagob, M., Al‐Younes, B., AlQuait, L., Mustafa, O. M., Bulbul, M., Rahbeeni, Z. A., et al. (2020) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2019.0192 · Cited by 27 · see citing works

Gross Motor, Physical Activity and Musculoskeletal Disorder Evaluation Tools for Rett Syndrome: A Systematic Review

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Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes

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Distinguishing response to names in Rett and MECP2 Duplication syndrome: An ERP study of auditory social information processing

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A New Scale to Evaluate Motor Function in Rett Syndrome: Validation and Psychometric Properties

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Translational research

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Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice?

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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Xiol, C., Vidal, S., Pascual‐Alonso, A., Blasco, L. C., Brandi, N., Pacheco, P., Gerotina, E., O’Callaghan, M., Pineda, M., Armstrong, J., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-48385-w · Cited by 23 · see citing works

Transcriptomic and Epigenomic Landscape in Rett Syndrome

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Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

Fang, X., Butler, K. M., Abidi, F., Gass, J. M., Beisang, A., Feyma, T. J., Ryther, R. C. C., Standridge, S. M., Heydemann, P. T., Jones, M. D., et al. (2022) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1917 · Cited by 22 · see citing works

The Rare Diseases Clinical Research Network: a model for clinical trial readiness

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Brain-Derived Neurotrophic Factor Secreting Human Mesenchymal Stem Cells Improve Outcomes in Rett Syndrome Mouse Models

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Multimodal Neuroimaging in Rett Syndrome With MECP2 Mutation

Kong, Y., Li, Q.-B., Zhao-hong, Y., Jiang, X., Zhang, G.-Q., Cheng, N., & Dang, N. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2022.838206 · Cited by 19 · see citing works

Clinical criteria for Rett syndrome

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Relation between circulating levels of GH, IGF-1, ghrelin and somatic growth in Rett syndrome

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Rett Syndrome: Coming to Terms with Treatment

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Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2–4 years with Rett syndrome

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Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure

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Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations

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Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders

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Substantial acetylcholine reduction in multiple brain regions of Mecp2-deficient female rats and associated behavioral abnormalities

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Skin injuries and joint contractures of the upper extremities in Rett syndrome

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Cell-Genotype Specific Effects of Mecp2 Mutation on Spontaneous and Nicotinic Acetylcholine Receptor-Evoked Currents in Medial Prefrontal Cortical Pyramidal Neurons in Female Rett Model Mice

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Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant

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Understanding Characteristics, Conditions and Treatment Patterns among Males Diagnosed with Rett Syndrome: An Analysis of Commercial Health Insurance Claims

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