Evidence map›Paper›PMID 40799219›Full record

ArticleFrontiers in genetics2025

Case Report: Novel

Leonardo Affronte, Antonella Pini, Claudia Pizzoli, Emanuele Coccia, Serena Mazzone, Arber Golemi, Melania Giannotta, Duccio Maria Cordelli, Valerio Carelli, Alessandro Vaisfeld and 1 more

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

Article in Frontiers in genetics, 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

11 authors.

Leonardo AffronteDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
Antonella PiniIRCCS Istituto delle Scienze Neurologiche di Bologna, Pediatric Neuromuscular Unit, UO Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.
Claudia PizzoliIRCCS Istituto Delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.
Emanuele CocciaMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Serena MazzoneIRCCS Istituto Delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.
Arber GolemiMedicina Nucleare, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Melania GiannottaIRCCS Istituto delle Scienze Neurologiche di Bologna, Pediatric Neuromuscular Unit, UO Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.
Duccio Maria CordelliIRCCS Istituto Delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.
Valerio CarelliDepartment of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Alessandro VaisfeldDepartment of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum, University of Bologna, Bologna, Italy.
Flavia PalomboIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

ATP13A2 is a gene localized on chromosome 1p36.13 and coding for a transmembrane protein found in the lysosomes and late endosomes, which is involved in many cellular metabolic activities. Pathogenetic variants of

Indexed as

ATP13A2juvenile onset parkinsonismKRS cases revisionkufor rakeb syndromeWES

Identifiers

PMID40799219
PMCPMC12340552

What OpenQuestion holds

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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 OpenQuestion graph.