Evidence map›Paper›PMID 32256628›Full record

ArticleIranian journal of child neurology2020

Investigation of Mutations in Exon 14 of

Rahmaneh Sadat Moosavi, Niloofar Jahangir Sooltani, Massoud Houshmand

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PubMed Full text at PMC
In one paragraph

Article in Iranian journal of child neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 97% 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

1 citing paper in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.

  1. Pooled it
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 1 institution in 1 country.

Rahmaneh Sadat MoosaviScience and Research Branch of Islamic Azad University, Islamic Republic of Iran, Niloofar Jahangir Soltani.
Niloofar Jahangir SooltaniDepartment of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
Massoud HoushmandDepartment of National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.
National Institute of Genetic Engineering and Biotechnology · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesCharcot-Marie-tooth disease type 4 (CMT4D) is an autosomal recessive form of Charcot-Marie-tooth disease with an earlier age of onset and greater severity, compared to other types of this disease. CMT4C and CMT4D are the most prevalent subtypes in Mediterranean countries due to the higher rate of consanguineous marriage. In this study, we aimed to identify p.R148X mutation in MATERIALS &

methodsA total of 24 CMT4D patients, who were referred to Iran Special Medical Center, were clinically and electrophysiologically evaluated in this study. DNA was extracted from the patients' blood samples. Next, polymerase chain reaction (PCR) assay was carried out, and the products were sequenced and analyzed in FinchTV software.

resultsNone of the target mutations were found in this study. Sequencing of

conclusionDespite the high rate of mutations in some populations, it seems that they are very rare in Iranian CMT4D patients. Regarding the association of SNP rs1025476 with CMT4D, further assessments are needed to reach a better understanding of genetic markers and their genetic features and to propose better diagnostic and treatment plans for the Iranian population.

Indexed as

Charcot-Marie-tooth diseaseCMT4DIranNDRG1 geneSH3TC2 gene

Identifiers

PMID32256628
PMCPMC7085125
OpenAlexW3014682120

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.