Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2-Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion.

Nur Asherah, Mulias Lian, Arnold S Tan, Riho Taguchi, Pengyian Chua, Shuling Liu, Caroline G Lee, Samuel S Chong

Abstract read

In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing 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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Nur AsherahDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.ORCID 0009-0005-7678-2779

Mulias LianPreimplantation Genetic Diagnosis Centre, Department of Obstetrics and Gynaecology, National University Hospital, Singapore 119074, Singapore.

Arnold S TanDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.ORCID 0000-0003-2772-2583

Riho TaguchiDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.

Pengyian ChuaDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.

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 ChongDepartment of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.ORCID 0000-0002-1872-5937

Funding

Singapore, Ministry of Health HSDP 05/X01

6 · The paper itself

Abstract

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by a pathogenic CAG trinucleotide repeat expansion in the

Indexed as

Ataxin-2Genetic TestingPreimplantation DiagnosisSpinocerebellar AtaxiasTrinucleotide Repeat ExpansionAllelesFemaleGenotypeHaplotypesHumansMaleMicrosatellite RepeatsPregnancyAtaxin-2ATXN2 protein, humanmulti-microsatellite haplotypingpreimplantation genetic testing for monogenic disorderspinocerebellar ataxia type 2triplet-primed PCR

Identifiers

PMID41683965

DOI10.3390/ijms27031546

PMCPMC12898808

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.