Evidence map›Paper›PMID 35627278›Full record

ArticleGenes2022

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.

Heike Kölbel, Florian Kraft, Andreas Hentschel, Artur Czech, Andrea Gangfuss, Payam Mohassel, Chi Nguyen, Werner Stenzel, Ulrike Schara-Schmidt, Corinna Preuße and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 34% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Deletion of exon 2 in ALS-linkedLife science alliance · 2026
    Article
  3. Article
  4. Article
  5. 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

11 authors at 6 institutions in 3 countries.

Heike KölbelDepartment of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Clinic Essen, University of Duisburg-Essen, 45122 Essen, Germany.ORCID 0000-0001-9629-7053
Florian KraftInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, 52062 Aachen, Germany.ORCID 0000-0002-5324-9155
Andreas HentschelLeibniz-Institut für Analytische Wissenschaften-ISAS-e.V., 44139 Dortmund, Germany.
Artur CzechLeibniz-Institut für Analytische Wissenschaften-ISAS-e.V., 44139 Dortmund, Germany.
Andrea GangfussDepartment of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Clinic Essen, University of Duisburg-Essen, 45122 Essen, Germany.ORCID 0000-0002-9975-0092
Payam MohasselNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Dr., Bethesda, MD 20892, USA.ORCID 0000-0001-5313-9514
Chi NguyenLeibniz-Institut für Analytische Wissenschaften-ISAS-e.V., 44139 Dortmund, Germany.
Werner StenzelDepartment of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany.
Ulrike Schara-SchmidtDepartment of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Clinic Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Corinna PreußeDepartment of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany.
Andreas RoosDepartment of Paediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Clinic Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Leibniz Institute for Analytical Sciences - ISAS · DEUniversity of Duisburg-Essen · DEHumboldt-Universität zu Berlin · DENational Institutes of Health · USRWTH Aachen University · DEUniversity of Ottawa · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Amyotrophic Lateral SclerosisGain of Function MutationSerine C-PalmitoyltransferaseHumansMutationProteomicsSerine C-PalmitoyltransferaseSPTLC1 protein, humanHSAN1Ajuvenile ALSproteomic profilingserine palmitoyltransferaseSPTLC1

Identifiers

PMID35627278
PMCPMC9140917
OpenAlexW4280645225

What Socratic 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 Socratic graph.