Evidence map›Paper›PMID 32428220›Full record

ArticleBrain : a journal of neurology2020

A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.

Marianthi Breza, Thomas Bourinaris, Stephanie Efthymiou, Reza Maroofian, Alkyoni Athanasiou-Fragkouli, John Tzartos, Georgios Velonakis, Efstratios Karavasilis, Georgia Angelopoulou, Dimitrios Kasselimis and 5 more

Open access · bronzeAbstract readLetterComment
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain : a journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 42% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Pooled it
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  3. Article
  4. Article
  5. Article
  6. Genetic aspects of ataxias in a cohort of Turkish patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024
    Article
  7. Article
  8. Review
  9. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors at 3 institutions in 2 countries.

Marianthi Breza1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Thomas BourinarisDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK.
Reza MaroofianDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK.
Alkyoni Athanasiou-FragkouliDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK.
John Tzartos1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Georgios Velonakis2nd Department of Radiology, Medical School, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Efstratios Karavasilis2nd Department of Radiology, Medical School, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Georgia AngelopoulouNeuropsychology and Speech Pathology Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Dimitrios KasselimisNeuropsychology and Speech Pathology Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Constantin PotagasNeuropsychology and Speech Pathology Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Leonidas Stefanis1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Georgia Karadima1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Georgios Koutsis1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Henry HouldenDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK.
National and Kapodistrian University of Athens · GRUniversity College London · GBUniversity of Crete · GR

Funding

Medical Research Council G0601943Medical Research Council MR/S01165X/1Wellcome TrustWellcome Trust WT093205Wellcome Trust WT104033AIA
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Cerebellar AtaxiaAdultHomozygoteHumansMutationPatients

Identifiers

PMID32428220
PMCPMC7296852
OpenAlexW3027203892

What OpenQuestion holds

Textmetadata
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.