Evidence map›Paper›PMID 36692473›Full record

ReviewDisease models & mechanisms2023

Mouse models of fragile X-related disorders.

Rob Willemsen, R Frank Kooy

Open access · goldAbstract readReview
In one paragraph

Review in Disease models & mechanisms, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
8.5field-weighted citation impact, top 2% of its field
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

13 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
  2. Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility.Autism research : official journal of the International Society for Autism Research · 2026
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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

2 authors at 1 institution in 2 countries.

Rob WillemsenDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands. Department of Medical Genetics, University of Antwerp, 2000 Antwerp, Belgium.ORCID 0000-0002-0443-619X
R Frank KooyDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands. Department of Medical Genetics, University of Antwerp, 2000 Antwerp, Belgium.ORCID 0000-0003-2024-0485
University of Antwerp · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The fragile X-related disorders are an important group of hereditary disorders that are caused by expanded CGG repeats in the 5' untranslated region of the FMR1 gene or by mutations in the coding sequence of this gene. Two categories of pathological CGG repeats are associated with these disorders, full mutation alleles and shorter premutation alleles. Individuals with full mutation alleles develop fragile X syndrome, which causes autism and intellectual disability, whereas those with premutation alleles, which have shorter CGG expansions, can develop fragile X-associated tremor/ataxia syndrome, a progressive neurodegenerative disease. Thus, fragile X-related disorders can manifest as neurodegenerative or neurodevelopmental disorders, depending on the size of the repeat expansion. Here, we review mouse models of fragile X-related disorders and discuss how they have informed our understanding of neurodegenerative and neurodevelopmental disorders. We also assess the translational value of these models for developing rational targeted therapies for intellectual disability and autism disorders.

Indexed as

Fragile X SyndromeIntellectual DisabilityNeurodegenerative DiseasesAnimalsDisease Models, AnimalFragile X Messenger Ribonucleoprotein 1MiceMutationTrinucleotide Repeat ExpansionFmr1 protein, mouseFragile X Messenger Ribonucleoprotein 1FMR1Fragile X-associated tremor/ataxia syndromeFragile X syndromeMouse models

Identifiers

PMID36692473
PMCPMC9903145
OpenAlexW4317870733

What OpenQuestion holds

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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.