Evidence map›Paper›PMID 32010037›Full record

ArticleFrontiers in neurology2019

A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4.

Rosa Campopiano, Rosangela Ferese, Fabio Buttari, Cinzia Femiano, Diego Centonze, Francesco Fornai, Francesca Biagioni, Maria Antonietta Chiaravalloti, Mauro Magnani, Emiliano Giardina and 2 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 36% 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

3 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Autosomal recessive adult onset ataxia.Journal of neurology · 2022
    Article
  3. 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 5 institutions in 1 country.

Rosa CampopianoIRCCS Neuromed, Pozzilli, Italy.
Rosangela FereseIRCCS Neuromed, Pozzilli, Italy.
Fabio ButtariIRCCS Neuromed, Pozzilli, Italy.
Cinzia FemianoIRCCS Neuromed, Pozzilli, Italy.
Diego CentonzeIRCCS Neuromed, Pozzilli, Italy.
Francesco FornaiIRCCS Neuromed, Pozzilli, Italy.
Francesca BiagioniIRCCS Neuromed, Pozzilli, Italy.
Maria Antonietta ChiaravallotiIRCCS Neuromed, Pozzilli, Italy.
Mauro MagnaniDepartment of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy.
Emiliano GiardinaDepartment of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
Anna RuzzoDepartment of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy.
Stefano GambardellaIRCCS Neuromed, Pozzilli, Italy.
Istituto Neurologico Mediterraneo · ITUniversity of Urbino · ITFondazione Santa Lucia · ITUniversity of Pisa · ITUniversity of Rome Tor Vergata · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ataxia with oculomotor apraxia (AOA) is a clinical syndrome featuring a group of genetic diseases including at least four separate autosomal-recessive cerebellar ataxias. All these disorders are due to altered genes involved in DNA repair. AOA type 4 (AOA4) is caused by mutations in DNA repair factor polynucleotide kinase phosphatase (

Indexed as

ataxia with oculomotor apraxiaclinical exomelate onsetneurogeneticsPNKP gene

Identifiers

PMID32010037
PMCPMC6974581
OpenAlexW3000189274

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.