Evidence map›Paper›PMID 34069712›Full record

Trial reportGenes2021

A Large Family with p.Arg554His Mutation in

Rosa Campopiano, Cinzia Femiano, Maria Antonietta Chiaravalloti, Rosangela Ferese, Diego Centonze, Fabio Buttari, Stefania Zampatti, Mirco Fanelli, Stefano Amatori, Carmelo D'Alessio and 5 more

Open access · goldAbstract readClinical Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in Genes, 2021. 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
1.2field-weighted citation impact, top 20% 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. Article
  2. 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

15 authors at 4 institutions in 1 country.

Rosa CampopianoIRCCS Neuromed, 86077 Pozzilli, Italy.
Cinzia FemianoIRCCS Neuromed, 86077 Pozzilli, Italy.
Maria Antonietta ChiaravallotiIRCCS Neuromed, 86077 Pozzilli, Italy.
Rosangela FereseIRCCS Neuromed, 86077 Pozzilli, Italy.ORCID 0000-0001-8899-0309
Diego CentonzeIRCCS Neuromed, 86077 Pozzilli, Italy.
Fabio ButtariIRCCS Neuromed, 86077 Pozzilli, Italy.
Stefania ZampattiIRCCS Neuromed, 86077 Pozzilli, Italy.
Mirco FanelliDepartment of Biomolecular Sciences, University of Urbino "Carlo Bo", 61029 Urbino, Italy.
Stefano AmatoriDepartment of Biomolecular Sciences, University of Urbino "Carlo Bo", 61029 Urbino, Italy.
Carmelo D'AlessioIRCCS Neuromed, 86077 Pozzilli, Italy.
Emiliano GiardinaGenomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, 00179 Rome, Italy.
Francesco FornaiIRCCS Neuromed, 86077 Pozzilli, Italy.ORCID 0000-0002-3883-5084
Francesca BiagioniIRCCS Neuromed, 86077 Pozzilli, Italy.
Marianna StortoIRCCS Neuromed, 86077 Pozzilli, Italy.
Stefano GambardellaIRCCS Neuromed, 86077 Pozzilli, Italy.
Istituto Neurologico Mediterraneo · ITUniversity of Urbino · ITUniversity of Rome Tor Vergata · ITUniversity of Pisa · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked adrenoleukodystrophy (X-ALD, OMIM #300100) is the most common peroxisomal disorder clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD). The disease is caused by defects in the gene for the adenosine triphosphate (ATP)-binding cassette protein, subfamily D (

Indexed as

AdrenoleukodystrophyAdultAgedATP Binding Cassette Transporter, Subfamily D, Member 1BrainDemyelinating DiseasesFemaleGenetic Association StudiesHumansMaleMiddle AgedMotor DisordersMutationPersons with DisabilitiesABCD1 protein, humanATP Binding Cassette Transporter, Subfamily D, Member 1ABCD1diagnosisneurogeneticsnext generation sequencingX-linked adrenoleukodystrophy

Identifiers

PMID34069712
PMCPMC8160645
OpenAlexW3163426338

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.