Evidence map›Paper›PMID 39821477›Full record

ArticleJournal of neurology2025

AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.

Quentin Sabbagh, Natalia Hernandez Poblete, Chloé Angelini, Clément Hersent, Mehdi Benkirane, Morgane Pointaux, Lise Larrieu, Anna Castrioto, Louise Deberge, Frédérique Fluchère and 4 more

Abstract readLetter
In one paragraph

Article in Journal of neurology, 2025. 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. Review
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

14 authors.

Quentin SabbaghService de Génétique Clinique, Université de Montpellier, Centre de Référence « Anomalies du Développement Et Syndromes Malformatifs », Centre Hospitalier Universitaire de Montpellier, Montpellier, France.ORCID http://orcid.org/0000-0003-4600-5387
Natalia Hernandez PobleteUniversité de Bordeaux, Centre de Référence « Neurogénétique », Centre Hospitalier Universitaire de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Chloé AngeliniUniversité de Bordeaux, Centre de Référence « Neurogénétique », Centre Hospitalier Universitaire de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Clément HersentLaboratoire de Génétique Moléculaire, Université de Montpellier, Institut Universitaire de Recherche Clinique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
Mehdi BenkiraneLaboratoire de Génétique Moléculaire, Université de Montpellier, Institut Universitaire de Recherche Clinique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
Morgane PointauxLaboratoire de Génétique Moléculaire, Université de Montpellier, Institut Universitaire de Recherche Clinique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
Lise LarrieuLaboratoire de Génétique Moléculaire, Université de Montpellier, Institut Universitaire de Recherche Clinique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
Anna CastriotoDépartement de Neurologie, Université Grenoble Alpes, Centre Hospitalier Universitaire Grenoble-Alpes, Grenoble Institut Neurosciences, Inserm U1216, 38000, Grenoble, France.
Louise DebergeService de Médecine Physique Et de Réadaptation, Université de Bordeaux, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Frédérique FluchèreService de Neurologie Et Mouvements Anormaux, Aix-Marseille Université, Assistance Publique -Hôpitaux de Marseille, Marseille, France.
Francis RamondUniversité Jean Monnet, Centre Hospitalier Universitaire de Saint-Etienne, Service de Génétique Médicale, Saint-Etienne, France.
Gaetan LescaDépartement de Génétique Médicale, Université Claude Bernard Lyon 1, Centre de Compétence « Neurogénétique », Hospices Civiles de Lyon, Lyon, France.
Michel KoenigLaboratoire de Génétique Moléculaire, Université de Montpellier, Institut Universitaire de Recherche Clinique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
Cyril GoizetUniversité de Bordeaux, Centre de Référence « Neurogénétique », Centre Hospitalier Universitaire de Bordeaux, Service de Génétique Médicale, Bordeaux, France. cyril.goizet@chu-bordeaux.fr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID39821477
PMCPMC11742001

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.