Evidence map›Paper›PMID 33260297›Full record

ArticleGenes2020

Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the

Adriana Vargas, Jorge Rojas, Ivan Aivasovsky, Sergio Vergara, Marianna Castellanos, Carolina Prieto, Luis Celis

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 45% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Hyperkinetic Movement Disorder inNeurology international · 2025
    Article
  3. Review
  4. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    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

7 authors at 2 institutions in 1 country.

Adriana VargasClínica Universidad de La Sabana, Km 7, Autopista Norte de Bogotá, Chía 250001, Colombia.ORCID 0000-0002-9775-8656
Jorge RojasFaculty of Medicine, Pontificia Universidad Javeriana, Cra 7a N° 40 B-36, Bogotá 110231, Colombia.
Ivan AivasovskyFaculty of Medicine, Universidad de La Sabana, Km 7, Autopista Norte de Bogotá, Chía 250001, Colombia.ORCID 0000-0003-0320-2735
Sergio VergaraFaculty of Medicine, Universidad de La Sabana, Km 7, Autopista Norte de Bogotá, Chía 250001, Colombia.ORCID 0000-0002-0299-6118
Marianna CastellanosFaculty of Medicine, Universidad de La Sabana, Km 7, Autopista Norte de Bogotá, Chía 250001, Colombia.
Carolina PrietoFaculty of Medicine, Universidad de La Sabana, Km 7, Autopista Norte de Bogotá, Chía 250001, Colombia.
Luis CelisFaculty of Medicine, Universidad de La Sabana, Km 7, Autopista Norte de Bogotá, Chía 250001, Colombia.ORCID 0000-0002-0338-6258
Universidad de La Sabana · COPontificia Universidad Javeriana · CO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The

Indexed as

Amino Acyl-tRNA SynthetasesChildHearing LossHumansLatin AmericaMaleMitochondriaMutationAmino Acyl-tRNA Synthetasesaminoacylationepilepsyhearing loss developmental delayKARS geneleukodystrophywhole exome sequencing

Identifiers

PMID33260297
PMCPMC7759888
OpenAlexW3107756871

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.