Evidence map›Paper›PMID 28761814›Full record

ArticleMolecular genetics and metabolism reports2017

A novel nonsense

Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa and 2 more

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 33% 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

6 citing papers in PubMed, 13 citations in OpenAlex.

  1. NovelGenes · 2025
    Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Occipital Horn Syndrome as a Result of Splice Site Mutations inFrontiers in molecular neuroscience · 2021
    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 1 country.

Maria Teresa BonatiClinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Ospedale San Luca, piazzale Brescia 20, 20149 Milan, Italy.
Federico VerdeNeurology Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Ospedale San Luca, piazzale Brescia 20, 20149 Milan, Italy.
Uros HladnikLaboratory of Medical Genetics, Mauro Baschirotto Institute for Rare Diseases, Via Bartolomeo Bizio 1, 36023 Costozza di Longare (Vicenza), Italy.
Paola CattelanLaboratory of Medical Genetics, Mauro Baschirotto Institute for Rare Diseases, Via Bartolomeo Bizio 1, 36023 Costozza di Longare (Vicenza), Italy.
Luca CampanaNeurology Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Ospedale San Luca, piazzale Brescia 20, 20149 Milan, Italy.
Chiara CastronovoLaboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, via L. Ariosto 13, 20145 Milan, Italy.
Nicola TicozziNeurology Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Ospedale San Luca, piazzale Brescia 20, 20149 Milan, Italy.
Luca MadernaNeurology Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Ospedale San Luca, piazzale Brescia 20, 20149 Milan, Italy.
Claudia ColombritaNeurology Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Ospedale San Luca, piazzale Brescia 20, 20149 Milan, Italy.
Sergio PapaUnit of Diagnostic Imaging and Stereotactic Radiosurgery, Centro Diagnostico Italiano, Via Saint Bon 20, 20147 Milan, Italy.
Paolo BanfiDon Carlo Gnocchi Foundation IRCCS-ONLUS, Piazzale Morandi 6, 20121 Milan, Italy.
Vincenzo SilaniNeurology Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Ospedale San Luca, piazzale Brescia 20, 20149 Milan, Italy.
IRCCS Istituto Auxologico Italiano · ITUniversity of Milan · ITCentro Diagnostico Italiano · ITDon Carlo Gnocchi Foundation · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel

Indexed as

ATP7A late truncationContinuum spectrum disordersCopper transportLimited elbow and shoulder movementWeak grip

Identifiers

PMID28761814
PMCPMC5522958
OpenAlexW2736986370

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.