Evidence map›Paper›PMID 35126465›Full record

ArticleFrontiers in genetics2021

A Compound Heterozygous Mutation in

G Perez-Siles, M Ellis, A Ashe, B Grosz, S Vucic, M C Kiernan, K A Morris, S W Reddel, M L Kennerson

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2021. 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
0.6field-weighted citation impact, top 33% 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. Review
  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 3 institutions in 1 country.

G Perez-SilesNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.
M EllisNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.
A AsheBrain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.
B GroszNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.
S VucicBrain and Nerve Research Center, Concord Clinical School, University of Sydney, NSW, Australia.
M C KiernanBrain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.
K A MorrisDepartment of Neurology, Concord Repatriation General Hospital, Sydney, NSW, Australia.
S W ReddelBrain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.
M L KennersonNorthcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.
University of Sydney · AUAnzac Research Institute · AUConcord Repatriation General Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinal Muscular Atrophy (SMA) is a heterogeneous group of neuromuscular diseases characterized by degeneration of anterior horn cells of the spinal cord, leading to muscular atrophy and weakness. Although the major cause of SMA is autosomal recessive exon deletions or loss-of-function mutations of

Indexed as

calpainnon-SMN1patient fibroblastsspinal muscular atrophyβ-catenin

Identifiers

PMID35126465
PMCPMC8807693
OpenAlexW4205715392

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.