Evidence map›Paper›PMID 39801711›Full record

ArticleBrain communications2025

The

Ioannis Livanos, Christina Votsi, Kyriaki Michailidou, David Pellerin, Bernard Brais, Stephan Zuchner, Marios Pantzaris, Kleopas A Kleopa, Eleni Zamba Papanicolaou, Kyproula Christodoulou

Abstract read
In one paragraph

Article in Brain communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 2 pooled it
–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

11 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  10. Article
  11. Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches.Movement disorders : official journal of the Movement Disorder Society · 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

10 authors.

Ioannis LivanosNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.ORCID https://orcid.org/0009-0005-5646-2356
Christina VotsiNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.ORCID https://orcid.org/0000-0002-5789-0919
Kyriaki MichailidouThe Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND), Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen 72076, Germany.ORCID https://orcid.org/0000-0001-7065-1237
David PellerinDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Bernard BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, CanadaH3A 2B4.ORCID https://orcid.org/0000-0003-1394-3561
Stephan ZuchnerDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Marios PantzarisThe Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND), Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen 72076, Germany.
Kleopas A KleopaThe Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND), Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen 72076, Germany.ORCID https://orcid.org/0000-0002-4103-8094
Eleni Zamba PapanicolaouThe Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND), Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen 72076, Germany.
Kyproula ChristodoulouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.ORCID https://orcid.org/0000-0002-0622-7594

Funding

GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exomeR01NS072248 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephan Zuchner · 2011 to 2026
$9.2M
NINDS NIH HHS R01 NS072248
6 · The paper itself

Abstract

Dominantly inherited intronic GAA repeat expansions in the fibroblast growth factor 14 gene have recently been shown to cause spinocerebellar ataxia 27B. Currently, the pathogenic threshold of (GAA)

Indexed as

autosomal dominant cerebellar ataxiaCyprusFGF14SCA27Bspinocerebellar ataxia 27B

Identifiers

PMID39801711
PMCPMC11724429

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.