Evidence map›Paper›PMID 38674442›Full record

ArticleGenes2024

Spectrum of

Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo and 8 more

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

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.7field-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

0 citing papers in PubMed, 3 citations in OpenAlex.

No citing paper in PubMed yet.

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

18 authors at 1 institution in 1 country.

Jacopo SartorelliUnit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.ORCID 0009-0006-2367-6371
Lorena TravagliniLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.
Marina MacchiaioloRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Giacomo GaroneNeurology, Epilepsy and Movement Disorder Unit, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.ORCID 0000-0002-3029-8536
Michaela Veronika GonfiantiniRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Davide VecchioRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0003-2907-3206
Lorenzo SinibaldiRare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-1371-936X
Flaminia FrascarelliRehabilitation Unit, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.
Viola CeccatelliRehabilitation Unit, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.
Sara PetrilloUnit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.
Fiorella PiemonteUnit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.ORCID 0000-0003-1825-9347
Gabriele PiccoloLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.ORCID 0000-0002-9037-4297
Daniela LongoNeuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, P.zza Sant'Onofrio 4, 00165 Rome, Italy.
Stefano ProDevelopmental Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.ORCID 0000-0002-6486-5201
Adele D'AmicoUnit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.ORCID 0000-0003-2438-2624
Enrico Silvio BertiniUnit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.ORCID 0000-0001-9276-4590
Francesco NicitaUnit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, P.zza Sant'Onofrio 4, 00165 Rome, Italy.ORCID 0000-0002-5612-821X
Bambino Gesù Children's Hospital · IT

Funding

Italian Ministry of Health Current Research funds
6 · The paper itself

Abstract

(1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized by a clinical spectrum without a clear genotype-phenotype correlation for both the two causative genes

Indexed as

Cockayne SyndromeDNA HelicasesDNA Repair EnzymesPoly-ADP-Ribose Binding ProteinsTranscription FactorsAdolescentAdultChildChild, PreschoolFemaleGenetic Association StudiesHumansInfantMaleRetrospective StudiesYoung AdultDNA HelicasesDNA Repair EnzymesERCC6 protein, humanERCC8 protein, humanPoly-ADP-Ribose Binding ProteinsTranscription Factorsataxiacerebellar hypoplasiagenotype–phenotypehypomyelinationleukodystrophyneurofilament light chain

Identifiers

PMID38674442
PMCPMC11050085
OpenAlexW4394914111

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.