Evidence map›Paper›PMID 29921608›Full record

ArticleJournal of neurology, neurosurgery, and psychiatry2019

Extending the clinical and mutational spectrum of

Katherine Johnson, Willem De Ridder, Ana Töpf, Marta Bertoli, Lauren Phillips, Peter De Jonghe, Jonathan Baets, Tine Deconinck, Vidosava Rakocevic Stojanovic, Stojan Perić and 13 more

Open access · hybridAbstract readLetter
In one paragraph

Article in Journal of neurology, neurosurgery, and psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 37% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. TheActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2024
    Review
  5. Review
  6. Article
  7. Article
  8. Review
  9. Review
  10. NovelActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2019
    Article
  11. 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

23 authors at 17 institutions in 9 countries.

Katherine Johnson *John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Willem De Ridder *Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.
Ana TöpfJohn Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Marta BertoliJohn Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Lauren PhillipsJohn Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Peter De JongheNeurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.
Jonathan BaetsNeurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.
Tine DeconinckNeurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.
Vidosava Rakocevic StojanovicNeurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
Stojan PerićNeurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
Hacer DurmusDepartment of Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Shirin Jamal-OmidiIranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
Shahriar NafissiIranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
Tiziana MonginiDepartment of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.
Anna ŁusakowskaDepartment of Neurology, Medical University of Warsaw, Warsaw, Poland.
Mark BusbyBradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.
James MillerThe Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Fiona NorwoodKing's College Hospital, London, UK.
Judith HudsonNorthern Molecular Genetics Service, Biomedicine East Wing, Newcastle upon Tyne, UK.
Rita BarresiJohn Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Monkol LekAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
Daniel G MacArthurAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
Volker StraubJohn Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK volker.straub@ncl.ac.uk.
Newcastle University · GBCentre for Sight · INMuscular Dystrophy UK · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GBTehran University of Medical Sciences · IRAntwerp University Hospital · BEBradford Teaching Hospitals NHS Foundation Trust · GBBroad Institute · USCentar za Promociju Nauke · RSInstitute for Biomedicine · ITIstanbul University · TRKing's College Hospital · GBMassachusetts General Hospital · USMedical University of Warsaw · PLUniversity of Antwerp · BEUniversity of Belgrade · RSUniversity of Turin · IT

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
NCATS NIH HHS UL1 TR001863NHGRI NIH HHS UM1 HG008900
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

AdultEthnicityFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedMuscle, SkeletalMuscular DiseasesMuscular Dystrophies, Limb-GirdleMutationTranscription FactorsTripartite Motif ProteinsUbiquitin-Protein LigasesTranscription FactorsTRIM32 protein, humanTripartite Motif ProteinsUbiquitin-Protein Ligasesmuscle diseasemuscular dystrophymyopathyneuromuscular

Identifiers

PMID29921608
PMCPMC6581110
OpenAlexW2809496447

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.