Evidence map›Paper›PMID 37957369›Full record

ArticleHuman genetics2023

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.

Sandra Martins, Ashraf Yahia, Inês P D Costa, Hassab E Siddig, Rayan Abubaker, Mahmoud Koko, Marc Corral-Juan, Antoni Matilla-Dueñas, Alexis Brice, Alexandra Durr and 6 more

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

Article in Human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 79% 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

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. 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

16 authors at 7 institutions in 7 countries.

Sandra Martinsi3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.ORCID http://orcid.org/0000-0002-3720-2920
Ashraf YahiaFaculty of Medicine, University of Khartoum, Khartoum, Sudan.ORCID http://orcid.org/0000-0002-0376-8264
Inês P D Costai3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.ORCID http://orcid.org/0000-0002-4649-6393
Hassab E SiddigDivision of Neurology, Sudan Medical Council, Khartoum, Sudan.
Rayan AbubakerSudanese Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.ORCID http://orcid.org/0000-0003-2888-1359
Mahmoud KokoSudanese Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.ORCID http://orcid.org/0000-0001-9512-0184
Marc Corral-JuanFunctional and Translational Neurogenetics Unit, Department of Neuroscience, Health Sciences Research Institute Germans Trias I Pujol (IGTP)-Universitat Autònoma de Barcelona, Can Ruti Campus, Badalona, Barcelona, Spain.ORCID http://orcid.org/0000-0001-9407-7516
Antoni Matilla-DueñasFunctional and Translational Neurogenetics Unit, Department of Neuroscience, Health Sciences Research Institute Germans Trias I Pujol (IGTP)-Universitat Autònoma de Barcelona, Can Ruti Campus, Badalona, Barcelona, Spain.ORCID http://orcid.org/0000-0002-3514-4181
Alexis BriceSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.ORCID http://orcid.org/0000-0002-0941-3990
Alexandra DurrSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.ORCID http://orcid.org/0000-0002-8921-7104
Eric LeguernSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
Laura P W RanumCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA.ORCID http://orcid.org/0000-0001-9808-9661
António Amorimi3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.ORCID http://orcid.org/0000-0002-7518-6247
Liena E O ElsayedDepartment of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.ORCID http://orcid.org/0000-0001-5753-6760
Giovanni StevaninSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.ORCID http://orcid.org/0000-0001-9368-8657
Jorge Sequeirosi3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal. jorge.sequeiros@ibmc.up.pt.ORCID http://orcid.org/0000-0002-9846-1037
Centre National de la Recherche Scientifique · FRUniversidade do Porto · PTUniversitat Autònoma de Barcelona · ESUniversity of Khartoum · SDPrincess Nourah bint Abdulrahman University · SASudan Medical Specialization Board · SDUniversity of Florida · US

Funding

Fundação para a Ciência e a Tecnologia CEECIND/00684/2017GenomePT POCI-01-0145-FEDER-022184
6 · The paper itself

Abstract

Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG)

Indexed as

Machado-Joseph DiseaseAdultAfrica, EasternDysarthriaHumansMaleMuscle CrampPhylogenyPortugalYoung Adult

Identifiers

PMID37957369
PMCPMC10676304
OpenAlexW4388646281

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.