Evidence map›Paper›PMID 42597359›Full record

ArticleFrontiers in neurology2026

Spinal muscular atrophy with five

Olesja Parmova, Blanka Adamova

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neurology, 2026. 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
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.

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

2 authors.

Olesja ParmovaDepartment of Neurology, Centre for Neuromuscular Diseases (Associated National Centre in the ERN EURO-NMD), University Hospital Brno, Brno, Czechia.
Blanka AdamovaDepartment of Neurology, Centre for Neuromuscular Diseases (Associated National Centre in the ERN EURO-NMD), University Hospital Brno, Brno, Czechia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The severity of spinal muscular atrophy (SMA) is partially influenced by Methods: We describe three patients with genetically confirmed SMA (each with homozygous Results: Marked phenotypic variability was observed. Two siblings identified through family screening showed divergent clinical courses despite a shared genetic background, with one developing adult-onset proximal weakness; the other remains asymptomatic. A third patient had adolescent-onset disease progressing to severe motor impairment. These findings highlight the limited prognostic value of Conclusion: Patients with five

Indexed as

Muscular Atrophy, SpinalNeonatal ScreeningSurvival of Motor Neuron 2 ProteinAdolescentDNA Copy Number VariationsFemaleGene DosageHumansInfant, NewbornMalePhenotypeSurvival of Motor Neuron 1 ProteinSMN1 protein, humanSMN2 protein, humanSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 Proteingenotype–phenotype correlationnewborn screeningphenotypic heterogeneitypresymptomatic SMASMN2 copy numberspinal muscular atrophy

Identifiers

PMID42597359
PMCPMC13467840

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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.