Exon skipping to treat Rett syndrome.

Design, synthesis and evaluation of trofinetide prodrug based on diketopiperazine strategy.

mPFC pyramidal neuron synchrony during social competition to form social rankings is disrupted in male Mecp2 knockout mice.

Dysregulated Cholesterol Clearance via CYP46A1 Contributes to Cerebellar Sterol Imbalance in Mecp2-Null Mice.

Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.

MECP2-Associated Rett Syndrome Without Developmental Regression-A Case Series.

A KCNC1 variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel.

A novel heterozygous pathogenic variation in the MECP2 gene causing typical Rett syndrome: a case report.

Safety and effectiveness of diazepam nasal spray in patients with Rett syndrome and seizure clusters: post hoc analyses from a long-term safety study and survey of severity and burden.

[Features of premorbid status in patients with Rett syndrome].

Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome.

Image-based epigenetic profiling with deep learning and high-speed super-resolution microscopy.

A Developmental Study of MeCP2 with Core and Linker Histones Indicates a Dynamic Change During Adolescent Brain Development in a Region- and Strain-Specific Manner in Mice.

'Molecular and Cellular Neuroscience': Impacts of Eight Highly Cited Articles Published in This Section of Brain Sciences in 2024.

Sociodemographic Profiles and Age-Related Differences in Comorbidities, Sleep, and Quality of Life of Turkish Children with Rett Syndrome and their Families.

MECP2 MBD-ID Module: A Unified DNA/RNA Binding Interface Disrupted in Rett Syndrome.

Global trends and future perspectives in autism spectrum disorder and gut microbiota research: a comprehensive bibliometric analysis.

Use of fenfluramine in MECP2-related Rett syndrome: Findings from a retrospective multicenter pediatric case series.

Proteomic dataset of MECP2-deficient and wild-type human brain organoids under spaceflight and ground conditions.

miR126-mediated alteration of vascular integrity in Rett syndrome.

Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome.

The Nodding syndrome cerebrospinal fluid proteome: a lens into neurodevelopmental failure consistent with environmentally triggered MECP2 dysregulation?

Pediatric intestinal pseudo-obstruction found in 3-year-old male with Rett-related mutation of methyl-CpG binding protein 2.

MECP2 Gene-Related Severe Neonatal Encephalopathy: A Rare Case in a Female Neonate.

MECP2 Insufficiency Attenuates RUNX2-Dependent Osteoblast Differentiation via miR-126-3p/DKK1-Mediated Canonical Wnt Signaling Inhibition in Rett Syndrome.

The serotonin receptor 7 as an emerging target to restore altered neuroplasticity in Angelman syndrome.

A Translational Roadmap for Neurological Nonsense Mutation Disorders.

A Phase 1, Randomized, Open-Label Study to Assess the Bioequivalence of Trofinetide as a Ready-to-Use Oral Solution and Constituted Powder for Oral Solution in Healthy Adults.

Dendrimer-Conjugated Glutamine Antagonist, D-TTM020, Ameliorates Brain Immune Dysregulation and Improves Neurobehavioral Deficits in the Mecp2-Deficient Mouse Model.

Mortality Among Youth and Young Adults With Autism Spectrum Disorder, Intellectual Disability, or Cerebral Palsy.

Transcranial Photobiomodulation in Rett Syndrome: A Mechanistic Review and Therapeutic Hypothesis.

IGF1 peptide targets Rett Syndrome astrocytes to degrade IGF binding protein, rescue synaptogenesis and restore mitochondrial function.

Unconstrained Plasticity Disrupts Memory Consolidation in a Mouse Model of Rett Syndrome.

KCC2 Activation Reverses Neurophysiological and Behavioral Deficits in Female Rett Mice.

Disease-modifying therapies for Rett syndrome: a review for neurologists.

Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy.

Post-marketing safety concerns with trofinetide: a disproportionality analysis of the first therapeutic agent for Rett syndrome based on the FDA adverse event reporting system (FAERS).

Disrupted Vitamin D Signaling and Metabolism in Neurodevelopmental and Neurodegenerative Disorders.

Unexpectedly competent immune response to SARS-CoV-2 vaccination in Rett syndrome.

Development and Validation of the Korean Version of the Rett Syndrome Behavioral Questionnaire.

Probing DNA damage in Rett syndrome neurons uncovers a role for MECP2 regulation of PARP1.

Synaptic and intrinsic membrane defects disrupt early neural network dynamics in Down syndrome.

Neurodegeneration Within the Spectrum of Pervasive Developmental Disorders.

Longitudinal analysis in Mecp2-het female mice reveals atypical nociceptive behaviours.

Whole exome sequencing facilitates early neurodevelopmental diagnosis in an outpatient clinic.

Non-epileptic paroxysmal events in Rett syndrome: A systematic review of case-based and observational evidence.

Longitudinal Rett syndrome behaviour questionnaire scores and their associations with genotype and trajectories of mobility, weight and seizure frequency status.

Loss of the Mecp2 gene in parvalbumin interneurons leads to an inhibitory deficit in the amygdala and affects its functional connectivity.

Methyl-CpG-binding protein 2 reads histone methylation via an aromatic cage to regulate gene expression and chromatin association.

Pridopidine, a Potent and Selective Therapeutic Sigma-1 Receptor (S1R) Agonist for Treating Neurodegenerative Diseases.

Systemic administration of the OGT inhibitor OSMI-1 normalizes hippocampal O-GlcNAcylation and improves recognition memory, redox balance, and brain mitochondrial homeostasis in a Rett syndrome mouse model.

Mecp2 deficiency impairs microscale cortical network topology and dynamics in a Rett syndrome mouse model.

Pluripotent stem cells-based neural organoids for modelling human brain development and diseases.

Trofinetide-Induced Enterocolitis Syndrome in a Child with Rett Syndrome.

Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report.

MeCP2 regulates telencephalic development in human cerebral organoids.

Brain assembloids decode human cortical networks in Rett syndrome.

Doublecortin-expressing cells are selectively altered in the piriform cortex but not in neurogenic areas of symptomatic Mecp2-heterozygous mice.

Development and initial validation of the Communication Inventory Disability - Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder.

MeCP2-driven chromatin organization controls nuclear stiffness.

Reliability of Actigraphy for the Assessment of Sleep and Circadian Rhythms in Rett and Related Syndromes.

Mecp2 deficiency induces dysphagia in a preclinical model of Rett Syndrome.

Breathing Dysfunction as a Meaningful and Measurable Aspect of Health in Rett Syndrome: A Caregiver's Perspective.

Pre-operative zoledronate is safe for children with medical complexity undergoing posterior spinal fusion for neuromuscular scoliosis.

MeCP2 interacts with the super elongation complex to regulate transcription.

Ganaxolone, an approved therapy for CDKL5-Deficiency Disorder, is an inhibitor of PTP1B.

Astrocyte SEMA3C reduction improves Rett Syndrome phenotypes.

Reciprocal regulation of the H3 histamine receptor in Rett syndrome and MECP2 Duplication syndrome: implications for therapeutic development.

Living With Rett Syndrome: From Discovery to Clinical Advancements and Emerging Therapies.

Discovery and Tuning of RNA Editing Guides via High-Throughput Screening and Chemical Modification.

Enhancing cognitive-motor recovery in Rett syndrome: effects of integrated intervention on neuropsychological and motor outcome.

Epidemiology and Healthcare Resource Utilization of Rett Syndrome in Canada: The Ontario Experience.

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome.

Tryptophan Metabolism in Neurodevelopment and Its Implications For Neurodevelopmental Disorders.

Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation.

Differential effects of a single dose of Lisdexamfetamine and Guanfacine on cognitive function in children with ADHD.

Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature.

RNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.

miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome models.

Harnessing the microbiota-gut-brain axis to prevent and treat pediatric neurodevelopmental disorders: translational insights and strategies.

Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder.

A Systematic Review of Wearable Sensors in Rett Syndrome-What Physiological Markers Are Informative for Monitoring Disease States?

The Ca2+ Bridge: From Neurons to Circuits in Rett Syndrome.

Altered activity of mPFC pyramidal neurons and parvalbumin-expressing interneurons during social interactions in a Mecp2 mouse model for Rett syndrome.

Mapping of neuronal redox conditions in a mouse model of Rett syndrome.

Ghrelin restores D1 receptor-mediated dopamine neurotransmission and enhances attentive behaviour in Mecp2 KO mice.

The methyl-CpG-binding protein 2 inhibits cGAS-associated signaling.

Risk of Ocular Pathology in Rett Syndrome.

Predictors of aspiration, lower respiratory tract infection, and respiratory failure among individuals with Rett Syndrome: analysis of real-world claims data in the United States.

MECP2T203M mutation disrupts neurogenesis in human cerebral organoids by altering chromatin dynamics and transcriptional regulation.

Mecasermin for the treatment of Rett Syndrome: a systematic review.

A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review.

Prevalence, severity, frequency and healthcare resource use of epilepsy among individuals with Rett Syndrome: analysis of data from a Rett Center of Excellence.

MECP2 Rare Variants in Boys With Central Precocious Puberty.

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience.

Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study.

Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndrome.

Communication and feeding skills in Rett syndrome: Case report.

Optimized clonal isolation and immortalization of Rett syndrome patient fibroblasts for in vitro modeling of MECP2 mutations.

Mitochondrial redox imbalance and CoQ10 deficiency in Rett syndrome: Insights from patient-derived fibroblasts.

Identification and Treatment of Catatonia Presenting as Agitation and Self Injury in an Adolescent With Rett Syndrome.

Clinical and demographic characteristics of patients with autism spectrum disorder receiving general anesthesia with or without physical restraint: a single-center retrospective study.

MeCP2 at the crossroads of hypoxia, oxidative stress, and gene regulation in Rett syndrome.

Atypical Rett syndrome with chorea: a case report.

Rett Syndrome: The Epidemiology, Clinical Features, and Management.

Comprehensive in Silico Reclassification of MECP2 Variants of Uncertain Significance in Rett Syndrome: Performance Evaluation and Structural Analysis.

Clinical application of radiofrequency echographic multi-spectrometry (REMS) for diagnosis and follow-up in several rare bone disorders: a case series.

Transcriptional Consequences of MeCP2 Knockdown and Overexpression in Mouse Primary Cortical Neurons.

Managing Complexity in Rett Syndrome with a Focus on Respiratory Involvement: A Tertiary Center Experience.

Study of trofinetide in Rett syndrome: Lessons from an approved drug for a severe neurodevelopmental disorder.

Normalization of network activity in an epilepsy model with a constitutively active GABBR2 variant.

Lipid peroxidation-induced cell death in Rett syndrome.

Gait Analysis in Rett Syndrome: Integrating Linear and Nonlinear Techniques.

Adult-onset drug-resistant progressive epilepsy in a patient with novel MECP2 mutation.

Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach.

MECP2 Dysfunction in Rett Syndrome: Molecular Mechanisms, Multisystem Pathology, and Emerging Therapeutic Strategies.

Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study.

HTA Evidence in Rare Diseases: Just Rare or Also Special?

Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.

Noonan Syndrome and Rett Syndrome in An 8-Year-Old Girl With A Tectal Neoplasm.

Transduction of hematopoietic stem and progenitor cells by an MECP2 lentiviral vector improves Rett syndrome phenotypes.

Exploring the uncharted role of cell senescence in rare diseases.

Symptom Onset in Classic Rett Syndrome: Analysis of Initial Clinical Severity Scale Entries.

Natural history of epilepsy in FOXG1 Syndrome.

The Role of MLPA in Detecting Syndromic Submicroscopic Copy Number Variations in Normal QF-PCR Miscarriage Specimens.

Mutation of MeCP2 at T158M Leads to Distinct Molecular and Phenotypic Abnormalities in Male and Female Mice.

Safety Profiles of Trofinetide in Pediatric Rett Syndrome Population: A Real-World Postmarketing Pharmacovigilance Analysis.

The associated factors of nutritional issues and body composition in Rett syndrome.

Rett Syndrome: Specific MECP2 Variants are Associated With Elevated Serum Neurofilament Light Chain.

Exosomal microRNAs in common mental disorders: Mechanisms, biomarker potential and therapeutic implications.

Astrocytic Regulation of aberrant perineuronal net formation in Mecp2 -null Neocortex.

Outcomes of Growth-Friendly Surgery and Posterior Spinal Fusion in Children With Rett Syndrome and Early Onset Scoliosis.

Altered oscillatory coupling reflects possible inhibitory interneuron dysfunction in Rett syndrome.

Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes.

Clinical and genetic characteristics associated with dual-positive gene variations.

Post-encephalitic epilepsy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion.

Genetic implication of GABAB receptors in the etiology of neurological and psychiatric disorders.

Evidence of neuronal DNA damage in the brains of patients with Rett syndrome.

Genotype-Phenotype Correlation and Therapeutic Amenability in a Cohort of Rett Syndrome Patients: A Single-Center Study.

At-School Telerehabilitation for Rett Syndrome: Support Teachers Driving Cognitive and Communication Progress in a Randomized Trial.

Sleep Disorders in Children with Rett Syndrome.

Communication Abilities, Assessment Procedures, and Intervention Approaches in Rett Syndrome: A Narrative Review.

Attenuated orexinergic signaling underlies sleep-wake problems in a Mecp2-null mouse model of Rett syndrome.

Conformational flexibility and rotational binding shifts in W104C mutant MECP2-DNA complexes: A molecular simulation study.

Rett syndrome: Pathogenicity and regulation of MECP2 (human) and Mecp2 (mouse) genes and their protein products through various molecular mechanisms.

Rett syndrome: a complex disorder with promising therapeutic prospects.

Do young people get the mental healthcare they need? Trajectories of depressive symptoms, correlates and care pathways in a clinical sample of young people reaching the upper age limit of their CAMHS.

Persistent Disruptions in Prefrontal Connectivity Despite Behavioral Rescue by Environmental Enrichment in a Mouse Model of Rett Syndrome.

Genomic insights into Rett syndrome-like features in Bangladeshi participants.

Directed evolution expands CRISPR-Cas12a genome-editing capacity.

Early transcriptional signatures of MeCP2 positive and negative cells in Rett syndrome.

5-mC DNA methylation in neurodevelopment: from molecular mechanisms to therapeutic implications.

Growth, Feeding and Nutrition in Rett Syndrome: Retrospective Audit of Twenty Years' Experience From an Australian Multidisciplinary Management Clinic.

Overexpression of mGlu7B in Mice: Implications for Neurodevelopmental Disorders.

Cannabidivarin mitigates motor and cognitive impairments in a female mouse model of Rett syndrome.

Altered dendritic morphology of MEC II pyramidal and stellate cells in Rett syndrome mice.

Rett syndrome: advances in Understanding MeCP2 function, potential gene therapies, and public health implications.

[Analysis of MECP2 gene variants and X chromosome inactivation in four children with Rett syndrome].

Targeting microRNA-dependent control of X chromosome inactivation improves the Rett Syndrome phenotype.

MeCP2 prevents against sustained ketamine-induced synaptic depression at inhibitory synapses.

Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in MECP2 (p. R133C) and GABBR1.

Clinical and functional outcomes in pediatric patients with Rett syndrome: a 15-year retrospective study.

Loss of MeCP2 leads to sleep deficits that are time-of-day dependent and worsen with sleep deprivation.

Zebrafish mecp2 null-mutation increases anxiety and cortisol levels but no change in adult social preference and larval chemically-induced hyperlocomotion.

AI-enabled drug prediction and gene network analysis reveal therapeutic use of vorinostat for Rett Syndrome in preclinical models.

Development of a BRET based chloride biosensor for high throughput screening of KCC2 modulators.

Full-Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) Improves Symptoms of Rett Syndrome: An Open-Label Study.

Sleep Problems and Clinical Severity in Rett Syndrome.

Overcoming Challenges in Learning Prerequisites for Adaptive Functioning: Tele-Rehabilitation for Young Girls with Rett Syndrome.

Considerations and procedures for acquiring EEG as part of multi-site studies for Rett syndrome and other genetic neurodevelopmental disorders.

Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.

Is highly purified cannabidiol a treatment opportunity for drug-resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?

Mitochondrial dynamics dysfunction and neurodevelopmental disorders: From pathological mechanisms to clinical translation.

Altered Microglial Plasticity in the Periaqueductal Grey of Pre-Symptomatic Mecp2-Heterozygous Mice Following Early-Life Stress.

Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants.

Genetic abnormalities in catatonia: a systematic review.

Molecular Insights into Neurological Regression with a Focus on Rett Syndrome-A Narrative Review.

Female cortical cellular mosaicism underlies shared MeCP2 and PCB impacted gene pathways.

Integrative analysis of 115 transcriptomic studies decodes the molecular landscape of neurodevelopmental disorders.

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

Bilingualism in the preserved speech variant of Rett syndrome: A longitudinal case study.

Parkinsonism and Dystonia Are Prevalent and Concomitant Movement Disorders in a Cohort of Patients with Rett Syndrome.

Impaired persistence of cortical sensory adaptation following repetitive tactile stimulation in the hindlimb somatosensory cortex of Rett syndrome mice.

Potentiation of group III metabotropic glutamate receptors positively affects neurophysiological features in a mouse model of Rett syndrome.

Rett Syndrome: Thinking Beyond Brain Borders.

Neuronal Plasticity-Dependent Paradigm and Young Plasma Treatment Prevent Synaptic and Motor Deficit in a Rett Syndrome Mouse Model.

MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping.

A Computational Approach to Identify Novel Protein Targets Uncovers New Potential Mechanisms of Action of Mirtazapine S(+) and R(-) Enantiomers in Rett Syndrome.

Exploring the Genetic Role of MECP2 Mutations on Phenotypic Presentation in Males: A Case Report.

MECP2 duplication syndrome: Recent advances in pathophysiology and therapeutic perspectives.

Current and Emerging Precision Therapies for Developmental and Epileptic Encephalopathies.