Evidence map›Paper›PMID 39859560›Full record

ReviewInternational journal of molecular sciences2025

De Novo

Martina Magistrati, Luisa Zupin, Eleonora Lamantea, Enrico Baruffini, Daniele Ghezzi, Andrea Legati, Fulvio Celsi, Flora Maria Murru, Valeria Capaci, Maurizio Pinamonti and 5 more

Abstract readCase ReportsReview
In one paragraph

Review in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. A De NovoBiomolecules · 2025
    Article
  6. Clinical and genetic characterization ofFrontiers in pediatrics · 2025
    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

15 authors.

Martina MagistratiDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze, 11/A, 43124 Parma, Italy.ORCID 0000-0002-5864-5819
Luisa ZupinInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.ORCID 0000-0001-5886-9129
Eleonora LamanteaUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133 Milan, Italy.ORCID 0000-0001-5090-6028
Enrico BaruffiniDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze, 11/A, 43124 Parma, Italy.ORCID 0000-0002-8280-7849
Daniele GhezziUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133 Milan, Italy.ORCID 0000-0002-6564-3766
Andrea LegatiUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133 Milan, Italy.ORCID 0000-0002-8178-6126
Fulvio CelsiInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.ORCID 0000-0002-9760-8463
Flora Maria MurruInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.
Valeria CapaciInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.ORCID 0000-0002-0110-5942
Maurizio PinamontiInstitute of Pathological Anatomy and Histology, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Via Giacomo Puccini, 50, 34148 Trieste, Italy.ORCID 0000-0002-9277-9378
Rossana BussaniInstitute of Pathological Anatomy and Histology, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Via Giacomo Puccini, 50, 34148 Trieste, Italy.ORCID 0000-0001-8241-9726
Marco CarrozziInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.ORCID 0000-0001-6282-4417
Cristina DallabonaDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze, 11/A, 43124 Parma, Italy.ORCID 0000-0003-4397-9143
Massimo ZevianiInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.
Maria Teresa BonatiInstitute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.ORCID 0000-0001-8024-0482

Funding

Italian Ministry of Health RC 13/24 and RC 10/24Italian Ministry of University and Research funded by the European Union-NextGenerationEU Project code PE0000006, Concession Decree No. 1553 of 11/10/2022 adopted by the Italian Ministry of University and Research, CUP D93C22000930002, "A multiscale integrated approach to the study of the nervous system in health and disease" (MNESYS)
6 · The paper itself

Abstract

Pathogenic variants in

Indexed as

DynaminsChild, PreschoolExome SequencingFatal OutcomeFemaleGTP PhosphohydrolasesHumansMitochondriaMutationPhenotypeDNM1L protein, humanDynaminsGTP Phosphohydrolasesburst suppressionDNM1Lglobal developmental regressionhypertrophic cardiomyopathy (HC)lethal encephalocardiomyopathyrefractory status epilepticus (RSE)retrospective post-mortem diagnosis

Identifiers

PMID39859560
PMCPMC11765995

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.