Evidence map›Paper›PMID 36078093›Full record

ReviewCells2022

Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.

Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio, Andrea Termine, Luca Colantoni, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella, Claudia Strafella

Abstract readReview
In one paragraph

Review in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
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

15 citing papers in PubMed.

  1. Article
  2. Article
  3. Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Review
  9. Article
  10. Review
  11. Influence ofInternational journal of molecular sciences · 2023
    Review
  12. Article
  13. Article
  14. Article
  15. Cells · 2022
    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

9 authors.

Valerio CaputoGenomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.ORCID 0000-0002-3503-3318
Domenica MegalizziGenomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.
Carlo FabrizioData Science Unit, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.ORCID 0000-0002-7824-8423
Andrea TermineData Science Unit, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.ORCID 0000-0003-4374-7430
Luca ColantoniGenomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.
Carlo CaltagironeDepartment of Clinical and Behavorial Neurology, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.
Emiliano GiardinaGenomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.
Raffaella CascellaGenomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.
Claudia StrafellaGenomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.ORCID 0000-0003-1334-0920

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease complicate the diagnosis, characterization and genotype-phenotype correlation of patients and families, raising the need for further research and data. Thus, the present review provides an update of the main molecular aspects underlying the complex architecture of FSHD, including the genetic factors (related to

Indexed as

Muscular Dystrophy, FacioscapulohumeralChromatinHomeodomain ProteinsHumansProtein Processing, Post-TranslationalChromatinHomeodomain Proteinsartificial intelligenceDUX4(epi)geneticsFSHDgenomicsmachine learningmuscular distrophync-RNANGSsingle-cell RNA-seqtranscriptomics

Identifiers

PMID36078093
PMCPMC9454908

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.