Evidence map›Paper›PMID 38927628›Full record

ArticleGenes2024

Functional and Molecular Characterization of New

Julie Rochat, André Blavier, Séverine Ruet, Sophie Vasseur, Angela Puma, Béatrice Desnous, Victor Chan, Emilien Delmont, Shahram Attarian, Raul Juntas Morales and 4 more

Abstract read
In one paragraph

Article in Genes, 2024. 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. Characterization of novel and recurrentJournal of neuromuscular diseases · 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

14 authors.

Julie RochatUnité Pathologies Métaboliques, Érythrocytaires et Dépistage Périnatal, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France.
André BlavierBiokerden, 76130 Mont Saint-Aignan, France.ORCID 0000-0002-5161-1237
Séverine RuetUnité Pathologies Métaboliques, Érythrocytaires et Dépistage Périnatal, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France.
Sophie VasseurUnité Pathologies Métaboliques, Érythrocytaires et Dépistage Périnatal, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France.
Angela PumaService Système Nerveux Périphérique et Muscle, Université Côte d'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France.
Béatrice DesnousCentre de Référence des Maladies Neuromusculaires de l'Enfant, Hôpital Timone Enfants, Assistance Publique Hôpitaux de Marseille 13915 Marseille, France.
Victor ChanService de Neurologie et Unité Neuro-Vasculaire, Centre Hospitalier de Valence, 26953 Valence, France.
Emilien DelmontCentre de Référence des Maladies Neuromusculaires et SLA, Hôpital de la Timone, Assistance Publique Hôpitaux de Marseille, 13915 Marseille, France.
Shahram AttarianCentre de Référence des Maladies Neuromusculaires et SLA, Hôpital de la Timone, Assistance Publique Hôpitaux de Marseille, 13915 Marseille, France.
Raul Juntas MoralesCentre de Reference des Maladies Neuromusculaires Atlantique Occitanie Caraïbe, Département de Neurologie, Centre Hospitalier Universitaire Montpellier, 34295 Montpellier, France.
Isabelle QuadrioUnité Neurogénétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France.ORCID 0000-0001-6867-8238
Léo VidoniUnité Neurogénétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France.
Nathalie Bonello-PalotDépartement de Génétique Médicale, Hôpital Timone Enfants, Assistance Publique Hôpitaux de Marseille, 13915 Marseille, France.ORCID 0000-0002-8657-1271
David CheillanUnité Pathologies Métaboliques, Érythrocytaires et Dépistage Périnatal, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France.ORCID 0000-0001-9535-2567

Funding

Multidisciplinary Digital Publishing Institute (Switzerland) offer 100% discount is available before 30 March 2024 (*article & review only*)
6 · The paper itself

Abstract

Hereditary sensory and autonomic neuropathy type 1 is an autosomal dominant neuropathy caused by the

Indexed as

Hereditary Sensory and Autonomic NeuropathiesMutation, MissenseSerine C-PalmitoyltransferaseSphingolipidsAdultFemaleHumansMaleMiddle AgedSerine C-PalmitoyltransferaseSphingolipidsSPTLC1 protein, humanhereditary neuropathyin silico toolsmolecular geneticssphingolipidsSPTLC1

Identifiers

PMID38927628
PMCPMC11203308

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.