ArticleNeurology. Genetics2025
Novel
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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.
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.
Who cites it
3 citing papers in PubMed.
- Toward the clinical application of long-read sequencing in repeat-expansion disorders.Nature genetics · 2026Review
- Performance Evaluation of PacBio PureTarget for Multiple Short Tandem Repeat Expansion Detection.Annals of laboratory medicine · 2026Article
- Somatosensory Evoked Potentials in Spinocerebellar Ataxia Type 3 and Type 10.Cerebellum (London, England) · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by intronic expansions of pentanucleotide repeats in the Methods: We used a novel multiplex 20-gene panel with Cas9-targeted, amplification-free long-read sequencing (LRS) and optical genome mapping to elucidate Results: We detected Discussion: Our key novel finding is the prominence of the alternate ATTCC motif alongside the common ATTCT motif. While repeat length alone does not appear to drive disease onset in SCA10, we uncovered that the ratio of the ATTCC motif within distinct repeat patterns might correlate with disease onset. These findings underscore the need to adapt LRS clinical workflows to fully characterize large repeat expansions at the nucleotide level.
Identifiers
What OpenQuestion holds
Registered trials
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.