Evidence map›Paper›PMID 34917136›Full record

ArticleFrontiers in genetics2021

A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family.

Francesco Bruno, Maria Elena Conidi, Gianfranco Puccio, Francesca Frangipane, Valentina Laganà, Livia Bernardi, Nicoletta Smirne, Maria Mirabelli, Rosanna Colao, Sabrina Curcio and 3 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.3field-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

13 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Atypical Frontotemporal Dementia Associated With SQSTM1 Gene Mutation: A Clinicopathological Case.Neuropathology : official journal of the Japanese Society of Neuropathology · 2025
    Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. VCP-related myopathy: a case series and a review of literature.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023
    Review
  10. Review
  11. Review
  12. Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy.International journal of molecular sciences · 2022
    Review
  13. 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

13 authors at 1 institution in 1 country.

Francesco BrunoRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Maria Elena ConidiLaboratorio Analisi Dell'Ospedale G. Jazzolino-ASP Vibo Valentia (RC), Reggio Calabria, Italy.
Gianfranco PuccioRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Francesca FrangipaneRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Valentina LaganàRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Livia BernardiRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Nicoletta SmirneRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Maria MirabelliRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Rosanna ColaoRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Sabrina CurcioRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Raffaele Di LorenzoRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Raffaele MalettaRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Amalia Cecilia BruniRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Ospedale L. Bonomo · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and/or frontotemporal dementia (FTD) (IBMPFD) was recently identified as rare autosomal dominant disorder due to mutations in

Indexed as

body myopathybvFTDD395Afrontotemporal dementianovel mutationPaget’s disease of boneValosin-Containing ProteinVCP gene

Identifiers

PMID34917136
PMCPMC8669739
OpenAlexW3215117123

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.