Evidence map›Paper›PMID 36140389›Full record

ReviewBiomedicines2022

Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.

Francesco Bruno, Valentina Laganà, Raffaele Di Lorenzo, Amalia C Bruni, Raffaele Maletta

Open access · goldAbstract readReview
In one paragraph

Review in Biomedicines, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.2field-weighted citation impact, top 22% 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

8 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Genetic variability ofHeliyon · 2024
    Article
  6. Article
  7. The Nerve Growth Factor Receptor (NGFR/p75International journal of molecular sciences · 2023
    Review
  8. 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

5 authors.

Francesco BrunoRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, 88046 Lamezia Terme, Italy.ORCID 0000-0003-1377-4489
Valentina LaganàAssociation for Neurogenetic Research (ARN), 88046 Lamezia Terme, Italy.
Raffaele Di LorenzoAssociation for Neurogenetic Research (ARN), 88046 Lamezia Terme, Italy.
Amalia C BruniRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, 88046 Lamezia Terme, Italy.
Raffaele MalettaRegional Neurogenetic Centre (CRN), Department of Primary Care, ASP Catanzaro, 88046 Lamezia Terme, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Although originally multi-ethnic in its structure, nowadays the Calabria region of southern Italy represents an area with low genetic heterogeneity and a high level of consanguinity that allows rare mutations to be maintained due to the founder effect. A complex research methodology-ranging from clinical activity to the genealogical reconstruction of families/populations across the centuries, the creation of databases, and molecular/genetic research-was modelled on the characteristics of the Calabrian population for more than three decades. This methodology allowed the identification of several novel genetic mutations or variants associated with neurodegenerative diseases. In addition, a higher prevalence of several hereditary neurodegenerative diseases has been reported in this population, such as Alzheimer's disease, frontotemporal dementia, Parkinson's disease, Niemann-Pick type C disease, spinocerebellar ataxia, Creutzfeldt-Jakob disease, and Gerstmann-Straussler-Scheinker disease. Here, we summarize and discuss the results of research data supporting the view that Calabria could be considered as a genetic isolate and could represent a model, a sort of outdoor laboratory-similar to very few places in the world-useful for the advancement of knowledge on neurodegenerative diseases.

Indexed as

Alzheimer’s diseaseCalabriaCreutzfeldt–Jakob diseasefrontotemporal dementiaGerstmann–Straussler–Scheinker diseaseItalyneurodegenerative diseasesNiemann–Pick type C diseaseParkinson’s diseasespinocerebellar ataxia

Identifiers

PMID36140389
PMCPMC9496333
OpenAlexW4295923973

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.