Evidence map›Paper›PMID 36768210›Full record

ReviewInternational journal of molecular sciences2023

Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in

Martje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden and 2 more

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.4field-weighted citation impact, top 12% 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

10 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due toInternational journal of molecular sciences · 2024
    Article
  8. An Intronic HeterozygousMuscles (Basel, Switzerland) · 2024
    Article
  9. Review
  10. An optimized temporally controlled Gal4 system inFrontiers in neuroscience · 2023
    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 at 4 institutions in 2 countries.

Martje G PaulyInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.ORCID 0000-0002-7794-0282
Norbert BrüggemannInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.ORCID 0000-0001-5969-6899
Stephanie EfthymiouDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID 0000-0003-4900-9877
Anne GrözingerInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Sokhna Haissatou DiawInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Viorica ChelbanDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Valentina TurchettiDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Barbara VonaInstitute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075 Göttingen, Germany.ORCID 0000-0002-6719-3447
Vera TadicInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.
Henry HouldenDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Alexander MünchauInstitute of Systems Motor Science, University of Lübeck, 23562 Lübeck, Germany.
Katja LohmannInstitute of Neurogenetics, University of Lübeck, 23562 Lübeck, Germany.ORCID 0000-0002-5121-1460
National Hospital for Neurology and Neurosurgery · GBUniversity of Lübeck · DEUniversity Hospital Schleswig-Holstein · DEUniversitätsmedizin Göttingen · DE

Funding

Damp Foundation n. a.Deutsche Forschungsgemeinschaft 469177153Deutsche Forschungsgemeinschaft BR4328.2-1Deutsche Forschungsgemeinschaft DFG-GEPRIS 413535489Medical Research Council MR/S005021/1
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Spastic Paraplegia, HereditaryHumansIntellectual DisabilityMuscle SpasticityMutationOptic AtrophyParaplegiaPedigreeProteinsSpinocerebellar AtaxiasTremorProteinsVPS13D protein, humandeep brain stimulationspastic ataxiaVPS13D

Identifiers

PMID36768210
PMCPMC9953040
OpenAlexW4317510092

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.