ArticleMolecular syndromology2012
Rett Syndrome.
Article in Molecular syndromology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
41 citing papers in PubMed, 93 citations in OpenAlex.
- A global literature review of comorbidities and concomitant supportive medications among individuals with Rett syndrome.Journal of comparative effectiveness research · 2026Review
- When Neurodevelopment Meets Autoimmunity: Pemphigus Foliaceus in Rett Syndrome Expands the Clinical Spectrum-A Case Report.International journal of molecular sciences · 2026Article
- Enigma of autism regression mechanistic pathways, clinical phenotypes, and early intervention implications.World journal of clinical pediatrics · 2026Review
- Gait Analysis in Rett Syndrome: Integrating Linear and Nonlinear Techniques.Journal of child neurology · 2026Article
- Letter to the Editor regarding: "Clinical and functional outcomes in pediatric patients with Rett syndrome: a 15-year retrospective study".European journal of pediatrics · 2025Article
- Communication Abilities, Assessment Procedures, and Intervention Approaches in Rett Syndrome: A Narrative Review.Brain sciences · 2025Review
- Virtual Reality as a Tool for Upper Limb Rehabilitation in Rett Syndrome: Reducing Stereotypies and Improving Motor Skills.Pediatric reports · 2025Article
- Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.NPJ genomic medicine · 2025Article
- Middle-Aged Women With Rett Syndrome: Longitudinal Profile From the British Isles Rett Syndrome Survey and Suggestions for Care.Journal of applied research in intellectual disabilities : JARID · 2025Article
- Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants inFrontiers in pediatrics · 2025Article
- Novel CDKL5 targets identified in human iPSC-derived neurons.Cellular and molecular life sciences : CMLS · 2024Article
- X-Linked Epilepsies: A Narrative Review.International journal of molecular sciences · 2024Review
- Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.Orphanet journal of rare diseases · 2023Article
- Preliminary assessment of the reliability and validity of infrared skin temperature measurements in Rett syndrome.Journal of intellectual disability research : JIDR · 2023Article
- Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies.Journal of developmental biology · 2022Review
- Gut Microbiota Profiles in Children and Adolescents with Psychiatric Disorders.Microorganisms · 2022Review
- Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers.Journal of autism and developmental disorders · 2022Article
- Prognostic Impact of Genetic Variants of MECP2 and TIRAP on Clinical Outcomes of Systemic Lupus Erythematosus with and without Nephritis.Biomolecules · 2021Article
- Choosing Strategies to Deal with Artifactual EEG Data in Children with Cognitive Impairment.Entropy (Basel, Switzerland) · 2021Article
- Clinical presentation of Rett syndrome in relation to quality of life and family functioning.The Journal of international medical research · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.