Disease: Rett syndrome
- <em>Mecp2</em> knock-out astrocytes affect synaptogenesis by interleukin 6 dependent mechanisms
- "Hole" Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing
- 2023 FDA TIDES (Peptides and Oligonucleotides) Harvest
- A Physiologically Based Pharmacokinetic Modeling Approach to Assess the Potential for Drug Interactions Between Trofinetide and CYP3A4-Metabolized Drugs
- A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways
- Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study
- Adolescents with Rett syndrome at critical care pathway junctures: Examining clinicians' decision to initiate invasive long-term ventilation
- Adult Phenotype of <em>SYNGAP1</em>-DEE
- An ambulatory dental treatment of a child with Rett syndrome and limited mouth opening under muscle relaxant-free general anesthesia: a case report
- An assessment of crucial structural contributors of HDAC6 inhibitors through fragment-based non-linear pattern recognition and molecular dynamics simulation approaches
- Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data
- Atypical brain responses to 40-Hz click trains in girls with Rett syndrome: Auditory steady-state response and sustained wave
- Behavioral and transcriptomic analyses of mecp2 function in zebrafish
- Bone Fracture in Rett Syndrome: Mechanisms and Prevention Strategies
- Calcium-Dependent Hyperexcitability in Human Stem Cell-Derived Rett Syndrome Neuronal Networks
- Changes in pediatric referrals after the 2009 ketogenic diet consensus recommendations
- Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome
- De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam
- De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
- Deficits in olfactory system neurogenesis in neurodevelopmental disorders
- Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
- Development of trofinetide for the treatment of Rett syndrome: from bench to bedside
- Distribution of hand function by age in individuals with Rett syndrome
- Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a <em>SMC1A</em> gene mutation
- Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation
- Editorial: Innovative approaches and therapeutic perspectives for early-onset neurodevelopmental disorders: from bench to bedside
- Electroencephalographic assessment in patients with Rett syndrome during cognitive stimulation by means of eye tracking technology and alternative and augmentative communication systems
- Emerging therapies for childhood-onset movement disorders
- Epigenetic control of adaptive or homeostatic splicing during interval-training activities
- Evidence of altered salivary cytokine concentrations in Rett syndrome and associations with clinical severity
- Experimental assessment of seizure-like behaviors in a girl with Rett syndrome
- Exploring the role of the Kölliker-Fuse nucleus in breathing variability by mathematical modelling
- Exposure-Response Efficacy Modeling to Support Trofinetide Dosing in Individuals with Rett Syndrome
- Extending MeCP2 interactome: canonical nucleosomal histones interact with MeCP2
- FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development
- Functional contribution of the intestinal microbiome in autism spectrum disorder, attention deficit hyperactivity disorder, and Rett syndrome: a systematic review of pediatric and adult studies
- Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders
- Generation and Characterization of a Human Neuronal In Vitro Model for Rett Syndrome Using a Direct Reprogramming Method
- Generation of an integration-free induced pluripotent stem cell line, FJMUUHi002-A, from a Rett syndrome patient with a heterozygous mutation p. R133C in MeCP2
- Genetic Instability and Disease Progression of Indian Rett Syndrome Patients
- Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis
- Gut microbes in central nervous system development and related disorders
- Gut microbiota profile in CDKL5 deficiency disorder patients
- Investigating the impact of probiotic on neurological outcomes in Rett syndrome: A randomized, double-blind, and placebo-controlled pilot study
- iPSC-derived healthy human astrocytes selectively load miRNAs targeting neuronal genes into extracellular vesicles
- Letter to the editor on "A novel frameshift mutation of FOXG1-induced congenital variant of Rett syndrome: A case report"
- Look at DAYBUE (Trofinetide) as first ever drug for treatment of Rett Syndrome
- LTP is Absent in the CA1 Region of the Hippocampus of Male and Female Rett Syndrome Mouse Models
- Magnetic Nanoparticle-Assisted Non-Viral CRISPR-Cas9 for Enhanced Genome Editing to Treat Rett Syndrome
- Managing Gastrointestinal Symptoms Resulting from Treatment with Trofinetide for Rett Syndrome: Caregiver and Nurse Perspectives
- MeCP2 represses the activity of topoisomerase IIβ in long neuronal genes
- MECP2-related disorders while gene-based therapies are on the horizon
- Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact
- Multidimensional Analysis of a Social Behavior Identifies Regression and Phenotypic Heterogeneity in a Female Mouse Model for Rett Syndrome
- Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications
- NCOR2 Is a Candidate Gene for Neurodevelopmental Disorders
- Non-CG DNA methylation and MeCP2 stabilize repeated tuning of long genes that distinguish closely related neuron types
- Norwegian population-based study of effectiveness of vagus nerve stimulation in patients with developmental and epileptic encephalopathies
- Nuclease-free precise genome editing corrects MECP2 mutations associated with Rett syndrome
- Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS)
- POMC-specific knockdown of MeCP2 leads to adverse phenotypes in mice chronically exposed to high fat diet
- Potentiation of the M <sub>1</sub> muscarinic acetylcholine receptor normalizes neuronal activation patterns and improves apnea severity in <em>Mecp2</em><sup>+/-</sup> mice
- Pre-op considerations in neuromuscular scoliosis deformity surgery: proceedings of the half day course at the 58th annual meeting of the Scoliosis Research Society
- Predominant cardiac sympathetic modulation during wake and sleep in patients with Rett syndrome
- Preimplantation genetic testing for a Chinese pedigree affected with Rett syndrome
- Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study
- Probing a neural unreliability account of auditory sensory processing atypicalities in Rett Syndrome
- Probing a neural unreliability account of auditory sensory processing atypicalities in Rett Syndrome
- Programmable RNA writing with trans-splicing
- Psychological aspects of being a parent of an individual with Rett syndrome: A scoping review
- Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)
- Purkinje-cell-specific MeCP2 deficiency leads to motor deficits and autistic-like behavior due to aberrations in PTP1B-TrkB-SK signaling
- Rett and Rett-related disorders: Common mechanisms for shared symptoms?
- Rett Syndrome
- Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials
- Rett syndrome in Ireland: a demographic study
- RIPK1 activation in Mecp2-deficient microglia promotes inflammation and glutamate release in RTT
- Safety and efficacy of trofinetide in Rett syndrome: a systematic review and meta-analysis of randomized controlled trials
- Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders
- Sleep and the Social Profiles of Individuals With Rett Syndrome
- Synthetic dosage-compensating miRNA circuits allow precision gene therapy for Rett syndrome
- Synthetic dosage-compensating miRNA circuits for quantitative gene therapy
- Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations
- Teaching Requesting to Individuals with Rett Syndrome Using Alternative Augmentative Communication (AAC) Through Caregiver Coaching via Telehealth
- The Alpha-Synuclein Gene (SNCA) is a Genomic Target of Methyl-CpG Binding Protein 2 (MeCP2)-Implications for Parkinson's Disease and Rett Syndrome
- The Effect of Caregiver-Implemented Training on Augmentative Alternative Communication Use by Individuals with Rett Syndrome: Remote Coaching via Telehealth
- The Efficacy of a Human-Ready mini<em>MECP2</em> Gene Therapy in a Pre-Clinical Model of Rett Syndrome
- The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome
- The Heart of Rett Syndrome: A Quantitative Analysis of Cardiac Repolarization
- Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings
- Transcranial Direct Current Stimulation in neurogenetic syndromes: new treatment perspectives for Down syndrome?
- Transcriptional Inhibition of the Mecp2 Promoter by MeCP2E1 and MeCP2E2 Isoforms Suggests Negative Auto-Regulatory Feedback that can be Moderated by Metformin
- Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
- Trofinetide receives FDA approval as first drug for Rett syndrome
- Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome
- Trofinetide-a new chapter in rett syndrome's treatment
- Use of a low-tech tool in the improvement of social interaction of patients with Rett Syndrome: an observational study
- Use of Augmentative and Alternative Communication by Individuals with Rett Syndrome Part 1: Page-Linking
- Variable expression of <em>MECP2, CDKL5,</em> and <em>FMR1</em> in the human brain: Implications for gene restorative therapies
- Zebrafish in understanding molecular pathophysiology, disease modeling, and developing effective treatments for Rett syndrome