Evidence map›Paper›PMID 40849231›Full record

ArticleJournal of neuromuscular diseases2026

Characterization of novel and recurrent

Xiaona Fu, Kenneth Gable, Sita D Gupta, KaiLi Zhang, Bingbing Jia, Wenjun Wang, Xinying Yang, Lu Wang, Lin Ge, Carsten G Bönnemann and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2026. 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. 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

12 authors.

Xiaona FuDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Kenneth GableDepartment of Biochemistry and Molecular Biology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.ORCID 0000-0002-9122-1006
Sita D GuptaDepartment of Biochemistry and Molecular Biology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
KaiLi ZhangDepartment of Neurology, Anhui Provincial Children's Hospital, Hefei, China.
Bingbing JiaDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Wenjun WangBeijing Junfeix Technology Co., Ltd., Beijing, China.
Xinying YangDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Lu WangDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Lin GeDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Teresa M DunnDepartment of Biochemistry and Molecular Biology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.ORCID 0000-0001-9187-8705
Hui XiongDepartment of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.ORCID 0000-0003-4138-2992

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAmyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disorder that progressively affects motor neurons. Gain-of-function mutations in serine palmitoyltransferase (SPT) genes, notably MATERIAL AND

methodsTwo Chinese patients with early-onset ALS, both carrying

resultsPatient 1, a 6-year-old male, exhibited a novel heterozygous de-novo

conclusionsOur findings identify a novel

Indexed as

Amyotrophic Lateral SclerosisSerine C-PalmitoyltransferaseSphingolipidsChildExome SequencingFemaleHumansMaleMutationSerine C-PalmitoyltransferaseSphingolipidsSPTLC2 protein, humanamyotrophic lateral sclerosischildhood-onset ALSsphingolipid dysregulationSPTLC2UPLC-MS/MSwhole-exome sequencing

Identifiers

PMID40849231
PMCPMC13438945

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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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.