Evidence map›Paper›PMID 41008644›Full record

ArticleBiomolecules2025

The First Heterozygous

Diego Lopergolo, Gianna Berti, Gian Nicola Gallus, Silvia Bianchi, Filippo Maria Santorelli, Alessandro Malandrini, Nicola De Stefano

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomolecules, 2025. 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

7 authors.

Diego LopergoloDepartment of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.ORCID 0000-0003-2256-0482
Gianna BertiDepartment of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.
Gian Nicola GallusDepartment of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.
Silvia BianchiDepartment of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.
Filippo Maria SantorelliNeurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Alessandro MalandriniDepartment of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.
Nicola De StefanoDepartment of Medicine, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy.

Funding

Ministero della Salute Ricerca Corrente 2024Regione Toscana "InGene 2.0" grant ("Bando Ricerca Salute 2018"), Decree n. 15397, 26-09-2018
6 · The paper itself

Abstract

backgroundThe

methodsWe analyzed a next-generation sequencing (NGS) targeted gene panel in a cohort including 40 patients with high clinical suspicion of mitochondrial disorders. Selected patients underwent a complete neurological examination, electrophysiology tests, and muscle biopsy. Segregation analysis was performed in available family members. The 3D structure of twinkle was visualized and analyzed using Swiss Model and Pymol version 3.1.6.1.

resultsWe found four DISCUSSION AND

conclusionsWe describe the clinical phenotype and muscle biopsy findings associated with the first reported heterozygous nonsense

Indexed as

Codon, NonsenseDNA HelicasesMitochondrial DiseasesMitochondrial ProteinsOphthalmoplegia, Chronic Progressive ExternalAdultDNA, MitochondrialFemaleHeterozygoteHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPedigreePhenotypeCodon, NonsenseDNA HelicasesDNA, MitochondrialMitochondrial ProteinsTWNK protein, humanmitochondrial diseasemyopathyTWINKLETwinkle-related disorders

Identifiers

PMID41008644
PMCPMC12467334

What Socratic holds

Textmetadata
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 Socratic graph.