Evidence map›Paper›PMID 33265090›Full record

ArticleJournal of musculoskeletal & neuronal interactions2020

Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation.

Girolamo A Vitello, Francesco Calì, Mirella Vinci, Carmela Scuderi, Francesca L'Episcopo, Antonino Musumeci, Sebastiano A Musumeci, Antonio G Nicotera

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In one paragraph

Article in Journal of musculoskeletal & neuronal interactions, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 81% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

8 authors at 2 institutions in 1 country.

Girolamo A Vitello *Oasi Research Institute - IRCCS, Troina, Italy.
Francesco Calì *Oasi Research Institute - IRCCS, Troina, Italy.
Mirella VinciOasi Research Institute - IRCCS, Troina, Italy.
Carmela ScuderiOasi Research Institute - IRCCS, Troina, Italy.
Francesca L'EpiscopoOasi Research Institute - IRCCS, Troina, Italy.
Antonino MusumeciOasi Research Institute - IRCCS, Troina, Italy.
Sebastiano A MusumeciOasi Research Institute - IRCCS, Troina, Italy.
Antonio G NicoteraOasi Research Institute - IRCCS, Troina, Italy.
Istituti di Ricovero e Cura a Carattere Scientifico · ITOasi Maria SS · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) refers to a group of genetic neuromuscular disorders affecting lower motor neurons causative of numerous phenotypes. To date, according to the age of onset, maximum muscular activity achieved, and life expectation four types of SMA are recognized, all caused by mutations in the SMN1 gene with SMN2 copy number influencing disease severity. Herein, we describe the case of a 31-year-old young male with normal psychomotor development who has experienced fatigue, cramps, and muscle fasciculations in the lower limbs for a period of 2 months. Based on electrophysiological and clinical findings we performed SMA genetic, clinical exome and RNA expression of candidate genes which led us to suggest SMN1-SMN2 genes [(2+0) and (0+0)] combination as possibly being implicated in the phenotype.

Indexed as

AdultElectromyographyGenotypeHumansMaleMuscular Atrophy, SpinalMutationSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinSMN1 protein, humanSMN2 protein, humanSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinElectromyographyHereditary Motor NeuropathiesSMASMN1SMN2

Identifiers

PMID33265090
PMCPMC7716687
OpenAlexW3109768728

What OpenQuestion holds

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LicenceCC BY-NC-SA
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Registered trials

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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.