Evidence map›Paper›PMID 38638148›Full record

ArticleBrain communications2024

Small fibre neuropathy in Fabry disease: a human-derived neuronal

Thomas Klein, Julia Grüner, Maximilian Breyer, Jan Schlegel, Nicole Michelle Schottmann, Lukas Hofmann, Kevin Gauss, Rebecca Mease, Christoph Erbacher, Laura Finke and 16 more

Open access · goldAbstract read
In one paragraph

Article in Brain communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
5.2field-weighted citation impact, top 4% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Skin innervation and itsFrontiers in cellular neuroscience · 2026
    Review
  5. Review
  6. Article
  7. Article
  8. Article
  9. Review
  10. Review
  11. Molecular genetics and metabolism reports · 2024
    Article
  12. Article
  13. Article
  14. Article
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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

26 authors at 3 institutions in 1 country.

Thomas KleinDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.
Julia GrünerDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.ORCID https://orcid.org/0009-0002-6165-3788
Maximilian BreyerDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.
Jan SchlegelDepartment of Biotechnology and Biophysics, University of Würzburg, 97074 Würzburg, Germany.
Nicole Michelle SchottmannDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.
Lukas HofmannDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.
Kevin GaussMedical Biophysics, Institute for Physiology and Pathophysiology, Heidelberg University, 69120 Heidelberg, Germany.
Rebecca MeaseMedical Biophysics, Institute for Physiology and Pathophysiology, Heidelberg University, 69120 Heidelberg, Germany.
Christoph ErbacherDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.
Laura FinkeDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.
Alexandra KleinDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.
Katharina KlugDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.
Franziska Karl-SchöllerDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.
Bettina VignoloDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.
Sebastian ReinhardDepartment of Biotechnology and Biophysics, University of Würzburg, 97074 Würzburg, Germany.
Tamara SchneiderInstitute for Human Genetics, University of Würzburg, 97074 Würzburg, Germany.
Katharina GüntherInstitute of Anatomy and Cell Biology, University of Würzburg, 97070 Würzburg, Germany.
Julian FinkInstitute of Organic Chemistry, University of Würzburg, 97074 Würzburg, Germany.
Jan DudekComprehensive Heart Failure Center CHFC, University Hospital Würzburg, 97080 Würzburg, Germany.
Christoph MaackComprehensive Heart Failure Center CHFC, University Hospital Würzburg, 97080 Würzburg, Germany.ORCID https://orcid.org/0000-0003-3694-4559
Eva KlopockiInstitute for Human Genetics, University of Würzburg, 97074 Würzburg, Germany.
Jürgen SeibelInstitute of Organic Chemistry, University of Würzburg, 97074 Würzburg, Germany.
Frank EdenhoferInstitute of Anatomy and Cell Biology, University of Würzburg, 97070 Würzburg, Germany.
Erhard WischmeyerInstitute of Physiology, University of Würzburg, 97070 Würzburg, Germany.
Markus SauerDepartment of Biotechnology and Biophysics, University of Würzburg, 97074 Würzburg, Germany.
Nurcan ÜçeylerDepartment of Neurology, University Hospital Würzburg, 97080 Würzburg, Germany.ORCID https://orcid.org/0000-0001-6973-6428
Universitätsklinikum Würzburg · DEUniversity of Würzburg · DEHeidelberg University · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Acral burning pain triggered by fever, thermal hyposensitivity and skin denervation are hallmarks of small fibre neuropathy in Fabry disease, a life-threatening X-linked lysosomal storage disorder. Variants in the gene encoding alpha-galactosidase A may lead to impaired enzyme activity with cellular accumulation of globotriaosylceramide. To study the underlying pathomechanism of Fabry-associated small fibre neuropathy, we generated a neuronal

Indexed as

disease modelFabry diseaseglobotriaosylceramideinduced pluripotent stem cellslysosomes

Identifiers

PMID38638148
PMCPMC11024803
OpenAlexW4393905874

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.