Evidence map›Paper›PMID 19154005›Full record

ReviewBioEssays : news and reviews in molecular, cellular and developmental biology2009

Microsatellite repeat instability and neurological disease.

Judith R Brouwer, Rob Willemsen, Ben A Oostra

Abstract readReview
In one paragraph

Review in BioEssays : news and reviews in molecular, cellular and developmental biology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed
6.0field-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

75 citing papers in PubMed, 139 citations in OpenAlex.

  1. A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  2. Chromatin modifiers in neurodevelopment.Frontiers in molecular neuroscience · 2025
    Review
  3. Article
  4. Review
  5. Review
  6. Article
  7. Article
  8. Article
  9. Review
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  12. Article
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  14. Article
  15. Neuromuscular Development and Disease: Learning FromFrontiers in cell and developmental biology · 2021
    Review
  16. Article
  17. Bridged Nucleic Acids Reloaded.Molecules (Basel, Switzerland) · 2019
    Review
  18. Article
  19. Article
  20. Article

15 more citing papers are in PubMed but not listed here.

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

3 authors at 2 institutions in 1 country.

Judith R BrouwerDepartment of Clinical Genetics, ErasmusMC, Rotterdam, The Netherlands.
Rob Willemsen
Ben A Oostra
Erasmus University Rotterdam · NLErasmus MC · NL

Funding

Mouse Models of FXTAS: Defining Critical Periods and Molecular TargetsRL1NS062411 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BERMAN, ROBERT F · 2007 to 2011
$4.2M
Fragile X Related Genes Mental Retardiation/DevelopmentR01HD038038 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN · 1999 to 2009
$3.1M
NICHD NIH HHS NIH ROI HD38038NICHD NIH HHS R01 HD038038NINDS NIH HHS NIH RL1 NS062411-01NINDS NIH HHS RL1 NS062411
6 · The paper itself

Abstract

Over 20 unstable microsatellite repeats have been identified as the cause of neurological disease in humans. The repeat nucleotide sequences, their location within the genes, the ranges of normal and disease-causing repeat length and the clinical outcomes differ. Unstable repeats can be located in the coding or the non-coding region of a gene. Different pathogenic mechanisms that are hypothesised to underlie the diseases are discussed. Evidence is given both from studies in simple model systems and from studies on human material and in animal models. Since somatic instability might affect the clinical outcome, this is briefly touched on. Available data and theories on the timing and mechanisms of the repeat instability itself are discussed, along with factors that have been observed to affect instability. Finally, the question of why the often harmful unstable repeats have been maintained throughout evolution is addressed.

Indexed as

Microsatellite RepeatsAnimalsAtaxiaBulbo-Spinal Atrophy, X-LinkedDisease Models, AnimalFragile X SyndromeHumansHuntington DiseaseModels, GeneticMyotonic DystrophyNervous System DiseasesSpinocerebellar AtaxiasTrinucleotide Repeat Expansion

Identifiers

PMID19154005
PMCPMC4321794
OpenAlexW2050909344

What OpenQuestion holds

Textmetadata
LicenceTDM
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.