Evidence map›Paper›PMID 38041679›Full record

ArticleJournal of neurology, neurosurgery, and psychiatry2024

Recurrent de novo

Safoora B Syeda, Museer A Lone, Payam Mohassel, Sandra Donkervoort, Pinki Munot, Marcondes C França, Juan Eli Galarza-Brito, Matthias Eckenweiler, Alexander Asamoah, Kenneth Gable and 16 more

Open access · hybridAbstract 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
3.9field-weighted citation impact, top 6% 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, 19 citations in OpenAlex.

  1. Article
  2. Characterization of novel and recurrentJournal of neuromuscular diseases · 2026
    Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Review
  9. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

26 authors at 11 institutions in 5 countries.

Safoora B SyedaNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0009-0009-3250-6755
Museer A LoneInstitute of Clinical Chemistry, University Hospital Zürich, Zürich, Switzerland.
Payam MohasselNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Sandra DonkervoortNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Pinki MunotNIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
Marcondes C FrançaDepartment of Neurology, University of Campinas, Campinas, Sao Paulo, Brazil.ORCID 0000-0003-0898-2419
Juan Eli Galarza-BritoHospital Pablo Arturo Suarez, Quito, Ecuador.
Matthias EckenweilerDepartment of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.
Alexander AsamoahNorton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA.
Kenneth GableDepartment of Biochemistry and Molecular Biology, Uniformed Services University, Bethesda, Maryland, USA.
Anirban MajumdarDepartment of Paediatric Neurology, Bristol Children's Hospital, Bristol, UK.
Anke SchumannDepartment of Paediatrics and Adolescent Medicine, Faculty of Medicine, Medical Centre, University of Freiburg, Baden-Württemberg, Germany.
Sita D GuptaDepartment of Biochemistry and Molecular Biology, Uniformed Services University, Bethesda, Maryland, USA.
Arpita LakhotiaNorton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA.
Perry B ShiehDepartment of Neurology and Pediatrics, University of California Los Angeles, Los Angeles, CA, USA.
A Reghan FoleyNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Kelly E JacksonNorton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA.
Katherine R ChaoCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Thomas L WinderInvitae Corporation, San Francisco, California, USA.
Francesco CatapanoDubowitz Neuromuscular Centre, CL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.
Lucy FengDubowitz Neuromuscular Centre, CL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.
Janbernd KirschnerDepartment of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.
Francesco MuntoniNIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
Teresa M Dunn *Department of Biochemistry and Molecular Biology, Uniformed Services University of Health Sciences, Bethesda, MD, USA.
Thorsten Hornemann *Institute of Clinical Chemistry, University Hospital Zürich, Zürich, Switzerland.
Carsten G Bönnemann *Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA carsten.bonnemann@nih.gov.
National Institutes of Health · USGreat Ormond Street Hospital · GBUniformed Services University of the Health Sciences · USUniversity of Freiburg · DEUniversity of Louisville · USUniversity Hospital of Zurich · CHBristol Royal Hospital for Children · GBBroad Institute · USInvitae (United States) · USUniversidade Estadual de Campinas (UNICAMP) · BRUniversity of California, Los Angeles · US

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
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
NHGRI NIH HHS R01 HG009141NHGRI NIH HHS UM1 HG008900
6 · The paper itself

Abstract

backgroundAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the upper and lower motor neurons with varying ages of onset, progression and pathomechanisms. Monogenic childhood-onset ALS, although rare, forms an important subgroup of ALS. We recently reported specific

methodsClinical examination of the patients along with ancillary and genetic testing, followed by biochemical investigation of patients' blood and fibroblasts, was performed.

resultsAll patients presented with early-childhood-onset progressive weakness, with signs and symptoms of upper and lower motor neuron degeneration in multiple myotomes, without sensory neuropathy. These findings were supported on ancillary testing including nerve conduction studies and electromyography, muscle biopsies and muscle ultrasound studies. Biochemical investigations in plasma and fibroblasts showed elevated levels of ceramides and unrestrained de novo sphingolipid synthesis. Our studies indicate that

conclusions

Indexed as

Amyotrophic Lateral SclerosisHereditary Sensory and Autonomic NeuropathiesNeurodegenerative DiseasesChildHumansSerineSerine C-PalmitoyltransferaseSphingolipidsSerineSerine C-PalmitoyltransferaseSphingolipidsSPTLC2 protein, humanALSBIOCHEMISTRYMOTOR NEURON DISEASENEUROGENETICSNEUROMUSCULAR

Identifiers

PMID38041679
PMCPMC10850718
OpenAlexW4388977939

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.