Evidence map›Paper›PMID 37810464›Full record

ArticleBrain communications2023

Repeat expansions in

Tanya Lam, Clarissa Rocca, Kristina Ibanez, Anupriya Dalmia, Samuel Tallman, Marios Hadjivassiliou, Anke Hensiek, Andrea Nemeth, Stefano Facchini, Genomics England Research Consortium and 4 more

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

Article in Brain communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.0field-weighted citation impact, top 26% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Another common genetic ataxia in South Korea: Spinocerebellar ataxia 36.European journal of human genetics : EJHG · 2026
    Article
  3. Review
  4. Article
  5. Analysis-ready VCF at Biobank scale using Zarr.bioRxiv : the preprint server for biology · 2025
    Article
  6. 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

14 authors at 8 institutions in 2 countries.

Tanya LamDepartment of Clinical Genetics, Great Ormond Street Hospital NHS Trust, London, WC1N 3JH, UK.
Clarissa RoccaClinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.ORCID https://orcid.org/0000-0003-3233-5529
Kristina IbanezClinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.
Anupriya DalmiaClinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.
Samuel TallmanGenomics England, London, E14 5AB, UK.
Marios HadjivassiliouAcademic Department of Neurosciences and Neuroradiology, Sheffield Teaching Hospitals NHS Trust, Sheffield, S10 2JF, UK.
Anke HensiekDepartment of Clinical Neurosciences, Addenbrookes Hospital, Cambridge, CB2 0QQ, UK.
Andrea NemethOxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, Oxford, OX3 9DU, UK.
Stefano FacchiniDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Genomics England Research Consortium
Nicholas WoodDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Andrea CorteseDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-2208-5311
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID https://orcid.org/0000-0002-2866-7777
Arianna TucciClinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.
Queen Mary University of London · GBNational Hospital for Neurology and Neurosurgery · GBAddenbrooke's Hospital · GBSheffield Teaching Hospitals NHS Foundation Trust · GBUniversity of Pavia · ITGenomics England · GBGreat Ormond Street Hospital · GBNational Health Service · GB

Funding

Medical Research Council MR/S006753/1Medical Research Council MR/S01165X/1Medical Research Council MR/T001712/1Wellcome Trust
6 · The paper itself

Abstract

Spinocerebellar ataxias form a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive cerebellar ataxia. Their prevalence varies among populations and ethnicities. Spinocerebellar ataxia 36 is caused by a GGCCTG repeat expansion in the first intron of the

Indexed as

NOP56repeat expansionSCA36spinocerebellar ataxiawhole-genome sequencing

Identifiers

PMID37810464
PMCPMC10558097
OpenAlexW4386727005

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.