Evidence map›Paper›PMID 38041684›Full record

ArticleJournal of neurology, neurosurgery, and psychiatry2024

Recurrent

Maike F Dohrn, Danique Beijer, Museer A Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, Sandra Donkervoort, A Reghan Foley, Aubrey Rose, Michael Lyons and 10 more

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

Article in Journal of neurology, neurosurgery, and psychiatry, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.7field-weighted citation impact, top 9% 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

9 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Characterization of novel and recurrentJournal of neuromuscular diseases · 2026
    Article
  3. Review
  4. Article
  5. Article
  6. Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025
    Review
  7. Article
  8. Review
  9. 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

20 authors at 7 institutions in 4 countries.

Maike F Dohrn *Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.ORCID 0000-0002-5320-9807
Danique Beijer *Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
Museer A Lone *Institute of Clinical Chemistry, University Hospital Zürich, Zürich, Switzerland.
Elif BayraktarKoç University, School of Medicine, Translational Medicine Research Center- NDAL, Istanbul, Turkey.
Piraye OflazerKoç University, School of Medicine, Department of Neurology, Istanbul, Turkey.
Rotem OrbachNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.
A Reghan FoleyNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.
Aubrey RoseGreenwood Genetic Center Foundation, Greenwood, South Carolina, USA.
Michael LyonsGreenwood Genetic Center Foundation, Greenwood, South Carolina, USA.
Raymond J LouieGreenwood Genetic Center Foundation, Greenwood, South Carolina, USA.
Kenneth GableDepartment of Biochemistry and Molecular Biology, Uniformed Services University, Bethesda, Maryland, USA.
Teresa DunnDepartment of Biochemistry and Molecular Biology, Uniformed Services University, Bethesda, Maryland, USA.
Sitong ChenDr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
Matt C DanziDr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
Matthis SynofzikTranslational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-2280-7273
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.
A Nazlı Başak *Koç University, School of Medicine, Translational Medicine Research Center- NDAL, Istanbul, Turkey.ORCID 0000-0001-6977-2517
Thorsten Hornemann *Institute of Clinical Chemistry, University Hospital Zürich, Zürich, Switzerland.
Stephan Zuchner *Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA szuchner@med.miami.edu.
University of Miami · USNational Institutes of Health · USGreenwood Genetic Center · USKoç University · TRUniformed Services University of the Health Sciences · USUniversity Hospital of Zurich · CHGerman Center for Neurodegenerative Diseases · DE

Funding

Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8M
GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exomeR01NS072248 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephan Zuchner · 2011 to 2026
$9.2M
Genomic Studies in Charcot-Marie-Tooth DiseaseR01NS105755 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SHY, MICHAEL E., ZUCHNER, STEPHAN · 2019 to 2023
$3.2M
NINDS NIH HHS R01 NS072248NINDS NIH HHS R01 NS105755
6 · The paper itself

Abstract

backgroundAmyotrophic lateral sclerosis (ALS) leads to paralysis and death by progressive degeneration of motor neurons. Recently, specific

methodsWe used the GENESIS platform to screen 700 ALS whole-genome and whole-exome data sets for variants in

resultsTwo unrelated patients presented with early-onset progressive proximal and distal muscle weakness, oral fasciculations, and pyramidal signs. Both patients carried the novel

conclusionsSpecific

Indexed as

Amyotrophic Lateral SclerosisSerine C-PalmitoyltransferaseCeramidesGain of Function MutationHumansMutationSphingolipidsCeramidesSerine C-PalmitoyltransferaseSphingolipidsSPTLC2 protein, humanALSBIOCHEMISTRYMOTOR NEURON DISEASENEUROGENETICSNEUROMUSCULAR

Identifiers

PMID38041684
PMCPMC10922288
OpenAlexW4388977980

What OpenQuestion holds

Textmetadata
LicenceTDM
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.