Evidence map›Paper›PMID 35449525›Full record

ArticleCase reports in pediatrics2022

Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.

M Comella, A Collotta, V Pavone, L Ciccia, A Bellinvia, C Cerruto, M G L Biondi, F Pisani, P Pavone

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in pediatrics, 2022. 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
0.4field-weighted citation impact, top 49% 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. 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

9 authors at 2 institutions in 1 country.

M ComellaPostgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, Catania 95123, Italy.
A CollottaPostgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, Catania 95123, Italy.
V PavoneDepartment of General Surgery and Medical Surgical Specialties, Section of Orthopaedics and Traumatology, University Hospital Policlinico "Rodolico-San Marco", University of Catania, Catania 95123, Italy.
L CicciaPostgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, Catania 95123, Italy.
A BellinviaPostgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, Catania 95123, Italy.
C CerrutoPostgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, Catania 95123, Italy.
M G L BiondiPostgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, Catania 95123, Italy.
F PisaniChild Neuropsychiatric Unit, University Hospital of Parma, Italy-Medicine & Surgery Department, Via Gramsci, 14, Parma 43126, Italy.
P PavoneUnit of Clinical Pediatrics, AOU "Policlinico", PO "G.Rodolico", University of Catania, Catania, Italy.ORCID https://orcid.org/0000-0002-5600-9560
University of Catania · ITUniversity of Parma · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical features. For these disorders, more than 100 genes have been implicated as causal factors, with mutations in the

Identifiers

PMID35449525
PMCPMC9017559
OpenAlexW4223442647

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.