Evidence map›Paper›PMID 37761957›Full record

ReviewGenes2023

Expanding the Natural History of

Davide Politano, Guido Catalano, Elena Pezzotti, Costanza Varesio, Fabio Sirchia, Antonella Casella, Elisa Rognone, Anna Pichiecchio, Renato Borgatti, Simona Orcesi

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

Review in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 32% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
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

10 authors at 1 institution in 1 country.

Davide PolitanoDepartment of Brain and Behavior Neuroscience, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-3795-1972
Guido CatalanoDepartment of Brain and Behavior Neuroscience, University of Pavia, 27100 Pavia, Italy.ORCID 0009-0003-3431-1018
Elena PezzottiDepartment of Brain and Behavior Neuroscience, University of Pavia, 27100 Pavia, Italy.
Costanza VaresioDepartment of Brain and Behavior Neuroscience, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0001-5645-021X
Fabio SirchiaDepartment of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Antonella CasellaDepartment of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Elisa RognoneNeuroradiology Department, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Anna PichiecchioDepartment of Brain and Behavior Neuroscience, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-5654-4088
Renato BorgattiDepartment of Brain and Behavior Neuroscience, University of Pavia, 27100 Pavia, Italy.
Simona OrcesiDepartment of Brain and Behavior Neuroscience, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0001-8947-9342
University of Pavia · IT

Funding

Italian Health Ministry RC 2022-2024
6 · The paper itself

Abstract

Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive disorder showing a pediatric or adult onset. First described in 1996 by Labrune and colleagues, it was only in 2016 that bi-allelic variants in a non-protein coding gene,

Indexed as

CalcinosisCystsLeukoencephalopathiesRNA, Small NucleolarChildChild, PreschoolFemaleHumansInfantInfant, NewbornMagnetic Resonance ImagingMaleRibosomesRNA, Small Nucleolarbevacizumabcoats plusLCCnatural historyribosomopathySNORD118

Identifiers

PMID37761957
PMCPMC10531261
OpenAlexW4386895241

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.