Evidence map›Paper›PMID 30050012›Full record

ReviewCells2018

Lafora Disease: A Ubiquitination-Related Pathology.

Maria Adelaida García-Gimeno, Erwin Knecht, Pascual Sanz

Open access · goldAbstract readReview
In one paragraph

Review in Cells, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
4.9field-weighted citation impact, top 5% 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

28 citing papers in PubMed, 44 citations in OpenAlex.

  1. Article
  2. Article
  3. Adeno-Associated Virus-Based Gene Therapy for Lafora Disease inInternational journal of molecular sciences · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Review
  13. Article
  14. LUBAC: a new player in polyglucosan body disease.Biochemical Society transactions · 2021
    Review
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Review
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.

Maria Adelaida García-GimenoDepartment of Biotechnology, Polytechnic University of Valencia, 46022 Valencia, Spain. agarcia@ibv.csic.es.
Erwin KnechtCentro de Investigación Príncipe Felipe, 46012 Valencia, Spain. eknecht@cipf.es.
Pascual SanzCentro de Investigación Biomédica en Red de Enfermedades Raras, (CIBERER), 46010 Valencia, Spain. sanz@ibv.csic.es.ORCID 0000-0002-2399-4103
Centre for Biomedical Network Research on Rare Diseases · ESUniversitat Politècnica de València · ES

Funding

Suppressing glycogen storage with small molecule inhibitors as a therapeutic approach to Lafora DiseaseP01NS097197 · NINDS · UNIVERSITY OF KENTUCKY · PI GAO, TIANYAN · 2016 to 2021
$9.0M
NINDS NIH HHS P01 NS097197
6 · The paper itself

Abstract

Lafora disease (LD, OMIM254780) is a rare and fatal form of progressive myoclonus epilepsy (PME). Among PMEs, LD is unique because of the rapid neurological deterioration of the patients and the appearance in brain and peripheral tissues of insoluble glycogen-like (polyglucosan) inclusions, named Lafora bodies (LBs). LD is caused by mutations in the

Indexed as

E3-ligaseglycogen accumulationLafora diseasemalinproteostasisubiquitination

Identifiers

PMID30050012
PMCPMC6116066
OpenAlexW2883006983

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.