Evidence map›Paper›PMID 33276461›Full record

ArticleJournal of personalized medicine2020

Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family.

Giovanna Morello, Giulia Gentile, Rossella Spataro, Antonio Gianmaria Spampinato, Maria Guarnaccia, Salvatore Salomone, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavallaro

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

Article in Journal of personalized medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 43% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. 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

9 authors at 4 institutions in 1 country.

Giovanna MorelloInstitute for Research and Biomedical Innovation (IRIB), Italian National Research Council (CNR), Via Paolo Gaifami, 18, 95125 Catania, Italy.
Giulia GentileInstitute for Research and Biomedical Innovation (IRIB), Italian National Research Council (CNR), Via Paolo Gaifami, 18, 95125 Catania, Italy.ORCID 0000-0003-0180-3481
Rossella SpataroALS Clinical Research Center and Neurochemistry Laboratory, BioNeC, University of Palermo, 90127 Palermo, Italy.
Antonio Gianmaria SpampinatoInstitute for Research and Biomedical Innovation (IRIB), Italian National Research Council (CNR), Via Paolo Gaifami, 18, 95125 Catania, Italy.
Maria GuarnacciaInstitute for Research and Biomedical Innovation (IRIB), Italian National Research Council (CNR), Via Paolo Gaifami, 18, 95125 Catania, Italy.
Salvatore SalomoneDepartment of Biomedical and Biotechnological Sciences, Section of Pharmacology, University of Catania, 95123 Catania, Italy.ORCID 0000-0001-5307-6103
Vincenzo La BellaALS Clinical Research Center and Neurochemistry Laboratory, BioNeC, University of Palermo, 90127 Palermo, Italy.
Francesca Luisa ConfortiDepartment of Pharmacy, Health and Nutritional Sciences, University of Calabria, Arcavacata di Rende, 87036 Rende, Italy.ORCID 0000-0001-8364-1783
Sebastiano CavallaroInstitute for Research and Biomedical Innovation (IRIB), Italian National Research Council (CNR), Via Paolo Gaifami, 18, 95125 Catania, Italy.ORCID 0000-0001-7590-1792
Institute for Biomedical Research and Innovation · ITUniversity of Catania · ITUniversity of Palermo · ITUniversity of Calabria · IT

Funding

Ministero dell'Istruzione, dell'Università e della Ricerca CTN01_00177_817708
6 · The paper itself

Abstract

backgroundRepeat expansions in the spinocerebellar ataxia type 1 (SCA1) gene

methodsIn this study, we employed a systems biology approach that integrated multiple genomic analyses of the ALS patient and some SCA1 family members.

resultsOur analysis identified common and distinctive candidate genes/variants and related biological processes that, in addition to or in combination with

conclusionsOverall, our work supports the utility to apply personal genomic information for characterizing complex disease phenotypes.

Indexed as

amyotrophic lateral sclerosiscustomized aCGHmulti-omicsnetworkNGSpathwaySCA1-MNspinocerebellar ataxia

Identifiers

PMID33276461
PMCPMC7712010
OpenAlexW3107310382

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.