Evidence map›Paper›PMID 37799281›Full record

ArticleFrontiers in neurology2023

Spinal muscular atrophy type I associated with a novel

Christina Votsi, Pantelitsa Koutsou, Antonis Ververis, Anthi Georghiou, Paschalis Nicolaou, George Tanteles, Kyproula Christodoulou

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

Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 22% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. In Search of Spinal Muscular Atrophy Disease Modifiers.International journal of molecular sciences · 2024
    Review
  3. 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

7 authors at 1 institution in 1 country.

Christina VotsiNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Pantelitsa KoutsouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Antonis VerverisNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Anthi GeorghiouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Paschalis NicolaouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
George TantelesClinical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Kyproula ChristodoulouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Cyprus Institute of Neurology and Genetics · CY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by pathogenic variants in the Methods: MLPA was used for Results: The novel Discussion: We verified the occurrence of a non-deletion

Indexed as

Cypriot populationnovel variantspinal muscular atrophysplicing dysregulationtranscript analysis

Identifiers

PMID37799281
PMCPMC10548546
OpenAlexW4386930493

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.