Evidence map›Paper›PMID 38234863›Full record

ArticleMolecular genetics and metabolism reports2024

New mutations identified in a case of Glycogenin-1 deficiency.

R Pruvost, M Csanyi, G Lefebvre, V Biancalana, E Malfatti, F Cassim, C Oldfors, L Defebvre, A Oldfors, C Tard

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2024. 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

10 authors.

R PruvostDepartment of Movement Disorder and NS-PARK/centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, Inserm 1172 University of Lille, Lille, France.
M CsanyiDepartment of Pathology, Lille Universitary Hospital Center, Lille, France.
G LefebvreMusculoskeletal Imaging Department, Centre de Consultation et d'Imagerie de l'Appareil Locomoteur, CHU Lille, University of Lille Nord de France, F-59000, Lille, France.
V BiancalanaLaboratory of Diagnostic Genetics, Faculty of Medicine, University of Strasbourg, France.
E MalfattiBiology of the Neuromuscular System, University Paris-Est Créteil, INSERM, U955 IMRB, F-94010 Créteil, France.
F CassimDepartment of Movement Disorder and NS-PARK/centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, Inserm 1172 University of Lille, Lille, France.
C OldforsDepartment of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden.
L DefebvreDepartment of Movement Disorder and NS-PARK/centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, Inserm 1172 University of Lille, Lille, France.
A OldforsDepartment of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden.
C TardDepartment of Movement Disorder and NS-PARK/centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, Inserm 1172 University of Lille, Lille, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID38234863
PMCPMC10792954

What OpenQuestion holds

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Registered trials

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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.