Evidence map›Paper›PMID 41924699›Full record

ArticleBrain communications2026

Neurological manifestations and genotype-phenotype correlations in

Alessandra Torraco, Charlotte L Alston, Giulia Barcia, Daniela Verrigni, Teresa Rizza, Michela Di Nottia, Anastasia Altobelli, Diego Martinelli, Daria Diodato, Stephanie Efthymiou and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Unusual Variants inRare (Amsterdam, Netherlands) · 2026
    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

24 authors.

Alessandra TorracoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Charlotte L AlstonMitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Giulia BarciaService de Médecine Génomique des Maladies Rares-APHP, Hôpital Necker Enfants Malades, Imagine Institute, Université Paris Cité, 75015 Paris, France.
Daniela VerrigniLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Teresa RizzaLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Michela Di NottiaLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Anastasia AltobelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Diego MartinelliDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID https://orcid.org/0000-0002-9324-2871
Daria DiodatoNeuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Stephanie EfthymiouDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square WC1N 3BG London, UK.ORCID https://orcid.org/0000-0003-4900-9877
Melis KoseDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Yamna KriouileUnit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, BP 6527 Rabat, Morocco.
Albert Z LimMitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Silvia MorlinoDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Barbara SiriDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID https://orcid.org/0000-0002-2876-4745
Nebal Waill SaadiUnit of Pediatric Neurology, College of Medicine/University of Baghdad, Children Welfare Teaching Hospital, 12114 Baghdad, Iraq.ORCID https://orcid.org/0000-0001-7523-6833
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square WC1N 3BG London, UK.ORCID https://orcid.org/0000-0002-2866-7777
Carlo Dionisi-ViciDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Robert McFarlandMitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Agnès RötigInstitut Imagine, Génétique des maladies mitochondriales, INSERM UMR 1163, Université Paris Cité, 75015 Paris, France.ORCID https://orcid.org/0000-0003-0589-0703
Enrico BertiniNeuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.ORCID https://orcid.org/0000-0001-9276-4590
Robert W TaylorMitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Rosalba CarrozzoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.ORCID https://orcid.org/0000-0002-3327-4054

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Assembly factorsLeigh syndromeMitochondrial diseaseNADH–ubiquinone oxidoreductaseRespiratory chain complexes

Identifiers

PMID41924699
PMCPMC13036829

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.