Evidence map›Paper›PMID 39125643›Full record

ArticleInternational journal of molecular sciences2024

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease-Robust Tools for Direct and Indirect Detection of the

Mulias Lian, Vivienne J Tan, Riho Taguchi, Mingjue Zhao, Gui-Ping Phang, Arnold S Tan, Shuling Liu, Caroline G Lee, Samuel S Chong

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Practice Recommendations for Genetic Testing of Ataxias.Annals of clinical and translational neurology · 2025
    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.

Mulias LianPreimplantation Genetic Diagnosis Centre, Department of Obstetrics and Gynaecology, National University Hospital, Singapore 119074, Singapore.
Vivienne J TanDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.ORCID 0000-0002-6070-2333
Riho TaguchiDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.
Mingjue ZhaoDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.
Gui-Ping PhangDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.
Arnold S TanDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.ORCID 0000-0003-2772-2583
Shuling LiuKKIVF Centre, Reproductive Medicine, KK Women's & Children's Hospital, Singapore 229899, Singapore.
Caroline G LeeDepartment of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117596, Singapore.ORCID 0000-0002-4323-3635
Samuel S ChongPreimplantation Genetic Diagnosis Centre, Department of Obstetrics and Gynaecology, National University Hospital, Singapore 119074, Singapore.ORCID 0000-0002-1872-5937

Funding

Singapore Ministry of Health HSDP 05/X01
6 · The paper itself

Abstract

Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a neurodegenerative disorder caused by the

Indexed as

Ataxin-3Machado-Joseph DiseaseMicrosatellite RepeatsPreimplantation DiagnosisTrinucleotide Repeat ExpansionAllelesFemaleGenetic TestingGenotypeHumansMalePregnancyRepressor ProteinsAtaxin-3ATXN3 protein, humanRepressor Proteinsmulti-microsatellite haplotypingpreimplantation genetic testing for monogenic disordersspinocerebellar ataxia type 3/Machado–Joseph diseasetriplet-primed PCR

Identifiers

PMID39125643
PMCPMC11311680

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.