Disease: Rett syndrome
- <em>Mecp2</em> knock-out astrocytes affect synaptogenesis by interleukin 6 dependent mechanisms
- 24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status
- A Cas9-fusion proximity-based approach generates an Irak1-Mecp2 tandem duplication mouse model for the study of MeCP2 duplication syndrome
- A clinical-translational review of sleep problems in neurodevelopmental disabilities
- A comprehensive review on the current status of CRISPR based clinical trials for rare diseases
- A meta-analysis of the efficacy and safety of trofinetide in patients with rett syndrome
- A novel frameshift mutation of FOXG1-induced congenital variant of Rett syndrome: A case report
- A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice
- Adolescents with Rett syndrome at critical care pathway junctures: Examining clinicians' decision to initiate invasive long-term ventilation
- Altered activity of mPFC pyramidal neurons and parvalbumin-expressing interneurons during social interactions in a Mecp2 mouse model for Rett syndrome
- An assessment of crucial structural contributors of HDAC6 inhibitors through fragment-based non-linear pattern recognition and molecular dynamics simulation approaches
- An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome
- Behavioral and transcriptomic analyses of mecp2 function in zebrafish
- Biochemical and molecular determinants of the subclinical inflammatory mechanisms in Rett syndrome
- Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey
- Changes in pediatric referrals after the 2009 ketogenic diet consensus recommendations
- Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database
- Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome
- Co-Occurring Methylenetetrahydrofolate Reductase (MTHFR) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome
- Comprehensive evaluation of the child with global developmental delays or intellectual disability
- 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
- Developmental change of brain volume in Rett syndrome in Taiwan
- Differential dynamics specify MeCP2 function at nucleosomes and methylated DNA
- Distribution of hand function by age in individuals with Rett syndrome
- Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?
- Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cerebral organoids
- Editorial: Innovative approaches and therapeutic perspectives for early-onset neurodevelopmental disorders: from bench to bedside
- EEG connectivity patterns in response to gaming and learning-based cognitive stimulations in Rett syndrome
- Effect of Hepatic Impairment on Trofinetide Exposures Using an In Silico Physiologically Based Pharmacokinetic Model
- Effect of Positive Allosteric Modulation and Orthosteric Agonism of Dopamine D2-like Receptors on Respiration in Mouse Models of Rett Syndrome
- Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders
- Emerging therapies for childhood-onset movement disorders
- Engineering Toxoplasma gondii secretion systems for intracellular delivery of multiple large therapeutic proteins to neurons
- Epigenetic control of adaptive or homeostatic splicing during interval-training activities
- Epigenetics in rare neurological diseases
- Epilepsy as a Novel Phenotype of BPTF-Related Disorders
- Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study
- Experimental assessment of seizure-like behaviors in a girl with Rett syndrome
- FDA's stamp of approval: Unveiling peptide breakthroughs in cardiovascular diseases, ACE, HIV, CNS, and beyond
- 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 of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations
- Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis
- Gut microbiota profile in CDKL5 deficiency disorder patients
- Identification of Predictors for Progression of Scoliosis in Rett Syndrome
- Insights into Rett Syndrome girls' receptive vocabulary through eye movements and parental perception
- International consensus definitions for infection-triggered encephalopathy syndromes
- iPSC-derived healthy human astrocytes selectively load miRNAs targeting neuronal genes into extracellular vesicles
- Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials
- 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
- Magnetic Nanoparticle-Assisted Non-Viral CRISPR-Cas9 for Enhanced Genome Editing to Treat Rett Syndrome
- Management of respiratory issues in patients with Rett syndrome: Italian experts' consensus using a Delphi approach
- MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons
- MeCP2 gene therapy ameliorates disease phenotype in mouse model for Pitt Hopkins syndrome
- MeCP2 Interacts with the Super Elongation Complex to Regulate Transcription
- Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact
- Modulation of Brain Cholesterol Metabolism through CYP46A1 Overexpression for Rett Syndrome
- Multi-omics in MECP2 duplication syndrome patients and carriers
- NCOR2 Is a Candidate Gene for Neurodevelopmental Disorders
- Neurodevelopmental Disorders Associated with Gut Microbiome Dysbiosis in Children
- Neurotrophins and Their Receptors: BDNF's Role in GABAergic Neurodevelopment and Disease
- Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
- Nuclease-free precise genome editing corrects MECP2 mutations associated with Rett syndrome
- Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up
- Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients
- 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
- Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome
- Pre-op considerations in neuromuscular scoliosis deformity surgery: proceedings of the half day course at the 58th annual meeting of the Scoliosis Research Society
- Precise in vivo RNA base editing with a wobble-enhanced circular CLUSTER guide RNA
- Preclinical Milestones in MECP2 Gene Transfer for Treating Rett Syndrome
- 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
- qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome
- Recommendations for the management of gastrointestinal comorbidities with or without trofinetide use in Rett syndrome
- Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome
- Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome
- Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing
- Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings
- Safety and efficacy of trofinetide in Rett syndrome: a systematic review and meta-analysis of randomized controlled trials
- Sex-specific single cell-level transcriptomic signatures of Rett syndrome disease progression
- Surgical complications in neuromuscular scoliosis surgery: systematic review and meta-analysis of the last ten years
- Synthetic dosage-compensating miRNA circuits allow precision gene therapy for Rett syndrome
- Synthetic dosage-compensating miRNA circuits for quantitative gene therapy
- Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms
- The Efficacy of Noninvasive Ventilation in Patients Affected by Rett Syndrome With Hypoventilation
- The sleep problems in individuals with Rett syndrome and their caregivers
- Transcranial Direct Current Stimulation in neurogenetic syndromes: new treatment perspectives for Down syndrome?
- Trofinetide (Daybue) for Rett syndrome
- Trofinetide for the treatment of Rett syndrome: Long-term safety and efficacy results of the 32-month, open-label LILAC-2 study
- Trofinetide for the treatment of Rett syndrome: Results from the open-label extension LILAC study
- Trofinetide receives FDA approval as first drug for Rett syndrome
- Unlock the potential: Auditory-evoked event-related potential (ERP) as a treatment-responsive biomarker for Rett syndrome
- Use of a low-tech tool in the improvement of social interaction of patients with Rett Syndrome: an observational study
- Using Organoids to Model Sex Differences in the Human Brain
- What you see is what you get? Eye gaze as a window to vocabulary in Rett Syndrome