Evidence map›Paper›PMID 37903619›Full record

ArticleeNeuro2023

Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay.

Paul Drehmann, Sinem Milanos, Natascha Schaefer, Vikram Babu Kasaragod, Sarah Herterich, Ulrike Holzbach-Eberle, Robert J Harvey, Carmen Villmann

Open access · goldAbstract read
In one paragraph

Article in eNeuro, 2023. 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
1.5field-weighted citation impact, top 20% of its field
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, 8 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Review
  6. Over-Production of the Human SLC7A10 inInternational journal of molecular sciences · 2023
    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

8 authors at 4 institutions in 3 countries.

Paul DrehmannInstitute for Clinical Neurobiology, Julius Maximilians University of Würzburg, 97078 Würzburg, Germany.
Sinem MilanosInstitute for Clinical Neurobiology, Julius Maximilians University of Würzburg, 97078 Würzburg, Germany.
Natascha SchaeferInstitute for Clinical Neurobiology, Julius Maximilians University of Würzburg, 97078 Würzburg, Germany.ORCID 0000-0001-9743-1963
Vikram Babu KasaragodNeurobiology Division, Medical Reserach Council Laboratory of Molecular Biology, Cambridge CB2 0QH, United Kingdom.
Sarah HerterichInstitute for Clinical Neurobiology, Julius Maximilians University of Würzburg, 97078 Würzburg, Germany.
Ulrike Holzbach-EberleCenter for Pediatrics and Adolescent Medicine, Pediatric Neurology, Social Pediatrics and Epileptology, University Hospital Gießen, 35392 Giessen, Germany.
Robert J HarveySchool of Health, University of the Sunshine Coast, Sippy Downs, QLD 4558, Australia.
Carmen VillmannInstitute for Clinical Neurobiology, Julius Maximilians University of Würzburg, 97078 Würzburg, Germany villmann_c@ukw.de.ORCID 0000-0003-1498-6950
University of Würzburg · DEMRC Laboratory of Molecular Biology · GBUniversitätsklinikum Gießen und Marburg · DEUniversity of the Sunshine Coast · AU

Funding

Medical Research Council MC_UP_1201/15
6 · The paper itself

Abstract

Human startle disease is associated with mutations in distinct genes encoding glycine receptors, transporters or interacting proteins at glycinergic synapses in spinal cord and brainstem. However, a significant number of diagnosed patients does not carry a mutation in the common genes

Indexed as

GlycineReceptors, GlycineAlanineAnimalsGlycine Plasma Membrane Transport ProteinsHumansMiceMutationMutation, MissenseAlanineGLRB protein, humanGlycineGlycine Plasma Membrane Transport ProteinsReceptors, GlycineSLC6A5 protein, humanAsc-1 transportercandidate geneglycine receptorglycine uptakehuman startle diseaseNMDAR

Identifiers

PMID37903619
PMCPMC10668224
OpenAlexW4388035555

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.