Evidence map›Paper›PMID 37107582›Full record

ReviewGenes2023

The Expanding Phenotypical Spectrum of

Martje G Pauly, G Christoph Korenke, Sokhna Haissatou Diaw, Anne Grözinger, Ana Cazurro-Gutiérrez, Belén Pérez-Dueñas, Victoria González, Alfons Macaya, Ana Teresa Serrano Antón, Borut Peterlin and 4 more

Open access · goldAbstract readReview
In one paragraph

Review in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.9field-weighted citation impact, top 25% 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

8 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. Hyperkinetic Movement Disorder inNeurology international · 2025
    Article
  4. Review
  5. Article
  6. Article
  7. Review
  8. 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

14 authors at 6 institutions in 3 countries.

Martje G PaulyInstitute of Neurogenetics, University of Luebeck, Ratzeburger Allee 160, 23562 Luebeck, Germany.ORCID 0000-0002-7794-0282
G Christoph KorenkeDepartment of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, 26133 Oldenburg, Germany.
Sokhna Haissatou DiawInstitute of Neurogenetics, University of Luebeck, Ratzeburger Allee 160, 23562 Luebeck, Germany.
Anne GrözingerInstitute of Neurogenetics, University of Luebeck, Ratzeburger Allee 160, 23562 Luebeck, Germany.
Ana Cazurro-GutiérrezPediatric Neurology Research Group, Autonomous University of Barcelona, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
Belén Pérez-DueñasPediatric Neurology Research Group, Autonomous University of Barcelona, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
Victoria GonzálezDepartment of Neurology, Autonomous University of Barcelona, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
Alfons MacayaPediatric Neurology Research Group, Autonomous University of Barcelona, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
Ana Teresa Serrano AntónClinical Genetic Section, Pediatric Service, Hospital Clinico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain.ORCID 0000-0001-5471-8550
Borut PeterlinClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.ORCID 0000-0001-7824-4978
Ivana Babić BožovićClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Aleš MaverClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Alexander MünchauInstitute of Systems Motor Science, University of Luebeck, 23562 Luebeck, Germany.
Katja LohmannInstitute of Neurogenetics, University of Luebeck, Ratzeburger Allee 160, 23562 Luebeck, Germany.ORCID 0000-0002-5121-1460
Universitat Autònoma de Barcelona · ESUniversity of Lübeck · DELjubljana University Medical Centre · SIHospital Universitario Virgen de la Arrixaca · ESKlinikum Oldenburg · DEUniversity Hospital Schleswig-Holstein · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (

Indexed as

Parkinsonian DisordersTryptophan-tRNA LigaseHumansMitochondriaMutation, MissenseTremorTryptophan-tRNA LigaselevodopaparkinsonismtremorWARS2

Identifiers

PMID37107582
PMCPMC10137540
OpenAlexW4361274977

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.