Evidence map›Paper›PMID 31409060›Full record

ReviewInternational journal of molecular sciences2019

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

Silvia Vidal, Clara Xiol, Ainhoa Pascual-Alonso, M O'Callaghan, Mercè Pineda, Judith Armstrong

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

35 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. A meta-analysis of the efficacy and safety of trofinetide in patients with rett syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024
    Pooled it
  2. Review
  3. AProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  4. Article
  5. Review
  6. Review
  7. Review
  8. Biomolecules · 2025
    Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Sigma 1 Receptor and Its Pivotal Role in Neurological Disorders.ACS pharmacology & translational science · 2025
    Review
  15. Review
  16. Rett syndrome.Nature reviews. Disease primers · 2024
    Review
  17. MeCP2 gene therapy ameliorates disease phenotype in mouse model for Pitt Hopkins syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024
    Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Silvia VidalSant Joan de Déu Research Foundation, 08950 Barcelona, Spain.
Clara XiolSant Joan de Déu Research Foundation, 08950 Barcelona, Spain.
Ainhoa Pascual-AlonsoSant Joan de Déu Research Foundation, 08950 Barcelona, Spain.
M O'CallaghanInstitut de Recerca Pediàtrica Hospital Sant Joan de Déu, 08950 Barcelona, Spain.
Mercè PinedaSant Joan de Déu Research Foundation, 08950 Barcelona, Spain.
Judith ArmstrongInstitut de Recerca Pediàtrica Hospital Sant Joan de Déu, 08950 Barcelona, Spain. jarmstrong@sjdhospitalbarcelona.org.ORCID 0000-0003-0588-9307

Funding

Catalan Association for Rett Syndrome PFNR0004Fondobiorett FPNR0004Instituto de Salud Carlos III PI15/01159Mi Princesa Rett PFNR0004Spanish Ministry of Health (Fundacion Espanola para la Ciencia y la Tecnología) Precipita
6 · The paper itself

Abstract

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects females, resulting in severe cognitive and physical disabilities, and is one of the most prevalent causes of intellectual disability in females. More than fifty years after the first publication on Rett syndrome, and almost two decades since the first report linking RTT to the

Indexed as

AnimalsGene Expression RegulationGenetic HeterogeneityHumansMethyl-CpG-Binding Protein 2MutationRett SyndromeSignal TransductionMECP2 protein, humanMethyl-CpG-Binding Protein 2geneticsNGSRett-likeRett syndrome

Identifiers

PMID31409060
PMCPMC6719047

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.