Evidence map›Paper›PMID 31037086›Full record

ArticleIranian journal of child neurology2019

No Hot Spot Mutations

Sima Parvizi Omran, Massod Houshmand, Donkor Dominic, Zahra Farjami, Parvaneh Karimzadeh

Open access · greenAbstract read
PubMed Full text at PMC
In one paragraph

Article in Iranian journal of child neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 40% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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

5 authors at 4 institutions in 2 countries.

Sima Parvizi OmranDepartment of Biology, Damghan Branch, Islamic Azad University, Damghan, Iran.
Massod HoushmandDepartment of Human Genetics, National Institute of Genetic Engineerin -Biotechnology, Tehran, Iran.
Donkor DominicDepartment of Biology, Concordia University, Montreal, Canada.
Zahra FarjamiDepartment of Modern Sciences and Technologies, Faculty of Medicine, Mashhad University of Medical Sciences.
Parvaneh KarimzadehPediatric Neurology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Concordia University · CAIslamic Azad University, Damghan Branch · IRMashhad University of Medical Sciences · IRShahid Beheshti University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesWe aimed to perform genetic testing and clinical data of patients with Congenital Myasthenic Syndrome, a rare disorder caused by mutations in genes encoding molecules expressed in the neuromuscular junction and constitutes fatigable muscle weakness. MATERIALS &

methodsSixteen patients were screened in Taban Clinic, Tehran, Iran from 2014 to 2015 for the hot spot mutations in known CMSs genes (

resultsMost patients represented the criteria of Congenital Myasthenic Syndrome in view of early ptosis, motor delay, normal mental development, easy fatigability, decrement in repetitive nerve stimulation test of EMG-NCV and a negative result for antibody against of acetylcholine receptor. No variations were found in the mutational analysis of the

conclusionThe common founder mutations of involved genes in CMSs could be very rare among ethnic Iranian. Screening of the entire genes would be efficient to distinguish the specific mutations in specific ethnicity.

Indexed as

CHATCHRNECongenital myasthenic syndromeHot spot mutationRapsyn

Identifiers

PMID31037086
PMCPMC6451864
OpenAlexW2932473685

What OpenQuestion holds

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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.