Evidence map›Paper›PMID 38275596›Full record

ArticleGenes2023

Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).

Alexander German, Jelena Jukic, Andreas Laner, Philipp Arnold, Eileen Socher, Angelika Mennecke, Manuel A Schmidt, Jürgen Winkler, Angela Abicht, Martin Regensburger

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.5field-weighted citation impact, top 17% 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

4 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Observational
  3. Article
  4. 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

10 authors at 2 institutions in 1 country.

Alexander GermanDepartment of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.ORCID 0000-0002-8708-6809
Jelena JukicDepartment of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
Andreas LanerMGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.ORCID 0000-0003-4596-7293
Philipp ArnoldInstitute of Functional and Clinical Anatomy, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.
Eileen SocherInstitute of Functional and Clinical Anatomy, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.ORCID 0000-0002-6239-3749
Angelika MenneckeInstitute of Neuroradiology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.ORCID 0000-0001-6795-5627
Manuel A SchmidtInstitute of Neuroradiology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.ORCID 0000-0002-8560-2582
Jürgen WinklerDepartment of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.ORCID 0000-0003-0630-9204
Angela AbichtMGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.
Martin RegensburgerDepartment of Molecular Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany.ORCID 0000-0002-2172-7386
Friedrich-Alexander-Universität Erlangen-Nürnberg · DEMedical Genetics Center · DE

Funding

Deutsche Forschungsgemeinschaft SFB 1483Federal Ministry of Education and Research 01EO2105Federal Ministry of Education and Research 01GM2209B
6 · The paper itself

Abstract

Fatty acid hydroxylase-associated neurodegeneration (FAHN/SPG35) is caused by pathogenic variants in

Indexed as

Heredodegenerative Disorders, Nervous SystemMixed Function OxygenasesSpastic Paraplegia, HereditaryAdolescentHumansMagnetic Resonance ImagingMaleMutationMixed Function OxygenasesFA2HFAHNgenetic variant modelinghereditary spastic paraplegiaSPG35

Identifiers

PMID38275596
PMCPMC10815826
OpenAlexW4390014121

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.