Evidence map›Paper›PMID 35196747›Full record

ArticleJournal of clinical neurology (Seoul, Korea)2022

Novel

Nesrine Kerkeni, Maher Kharrat, Faouzi Maazoul, Hela Boudabous, Ridha M'rad, Mediha Trabelsi

Open access · greenAbstract read
In one paragraph

Article in Journal of clinical neurology (Seoul, Korea), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.1field-weighted citation impact, top 60% 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

3 citing papers in PubMed, 1 citations in OpenAlex.

  1. Review
  2. Article
  3. 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 at 2 institutions in 1 country.

Nesrine KerkeniUniversity of Tunis El Manar, Faculty of Medicine of Tunis, Laboratory of Human Genetics LR99ES10, Tunis, Tunisia.ORCID https://orcid.org/0000-0002-8074-3052
Maher KharratUniversity of Tunis El Manar, Faculty of Medicine of Tunis, Laboratory of Human Genetics LR99ES10, Tunis, Tunisia.ORCID https://orcid.org/0000-0003-2968-8630
Faouzi MaazoulUniversity of Tunis El Manar, Faculty of Medicine of Tunis, Laboratory of Human Genetics LR99ES10, Tunis, Tunisia.ORCID https://orcid.org/0000-0002-1381-6565
Hela BoudabousDepartment of Paediatrics, Rabta Hospital, Tunis, Tunisia.ORCID https://orcid.org/0000-0002-4368-927X
Ridha M'radUniversity of Tunis El Manar, Faculty of Medicine of Tunis, Laboratory of Human Genetics LR99ES10, Tunis, Tunisia.ORCID https://orcid.org/0000-0003-3304-8126
Mediha TrabelsiUniversity of Tunis El Manar, Faculty of Medicine of Tunis, Laboratory of Human Genetics LR99ES10, Tunis, Tunisia.ORCID https://orcid.org/0000-0001-8369-6186
Hôpital Charles-Nicolle · TNHôpital La Rabta · TN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background and purposeWarburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused by mutations in

methodsWe applied whole-exome sequencing (WES) to two affected young males presenting a WARBM-compatible phenotype.

resultsWe reveal a new variation in

conclusionsWES analysis of a consanguineous Tunisian family with WARBM revealed a novel variation in

Indexed as

ABCD1 protein, humanmutationRAB3GAP1 protein, humanWarburg Micro syndromewhole exome sequencing

Identifiers

PMID35196747
PMCPMC8926778
OpenAlexW4214722498

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.