Evidence map›Paper›PMID 36011304›Full record

ArticleGenes2022

Rajech Sharkia, Abdelnaser Zalan, Hazar Zahalka, Amit Kessel, Ayman Asaly, Wasif Al-Shareef, Muhammad Mahajnah

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

7 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Two compound heterozygous variants in theFrontiers in pediatrics · 2024
    Article
  7. Genes · 2023
    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 5 institutions in 1 country.

Rajech SharkiaUnit of Human Biology and Genetics, The Triangle Regional Research and Development Center, Kafr Qara 30075, Israel.
Abdelnaser ZalanUnit of Human Biology and Genetics, The Triangle Regional Research and Development Center, Kafr Qara 30075, Israel.ORCID 0000-0003-4776-0675
Hazar ZahalkaChild Neurology and Development Center, Hillel-Yaffe Medical Center, Hadera 38100, Israel.
Amit KesselDepartment of Biochemistry and Molecular Biology, Faculty of Life Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.ORCID 0000-0003-0227-0226
Ayman AsalyPediatrics Department, Hillel-Yaffe Medical Center, Hadera 38100, Israel.ORCID 0000-0001-8868-2752
Wasif Al-ShareefUnit of Human Biology and Genetics, The Triangle Regional Research and Development Center, Kafr Qara 30075, Israel.
Muhammad MahajnahChild Neurology and Development Center, Hillel-Yaffe Medical Center, Hadera 38100, Israel.
Hillel Yaffe Medical Center · ILTriangle Research and Development Center · ILBeit Berl College · ILTechnion – Israel Institute of Technology · ILTel Aviv University · IL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. The clinical phenotypes of this disease are progressive neurological deterioration that could lead to seizures, dementia, ataxia, visual failure, and various forms of abnormal movement. In the current study, we describe two patients who presented with atypical phenotypic manifestation and protracted clinical course of CLN8 carrying a novel compound heterozygous variant at the

Indexed as

EpilepsyNeuronal Ceroid-LipofuscinosesComputational BiologyHumansMembrane ProteinsPhenotypeCLN8 protein, humanMembrane Proteinsbioinformatic analysesCLN8 diseaseCLN8 genecompound heterozygous variantneurodegenerative diseaseneuronal ceroid lipofuscinoses (NCL)

Identifiers

PMID36011304
PMCPMC9407845
OpenAlexW4290601381

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.