Evidence map›Paper›PMID 40869982›Full record

ArticleGenes2025

Cleo Schwarz, Jan Wennemuth, Julien Guevar, Francesca Dörn, Vidhya Jagannathan, Tosso Leeb

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Integrative MRI and Genomics Analyses PrioritizeAnimals : an open access journal from MDPI · 2026
    Article
  3. 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

6 authors.

Cleo SchwarzInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0009-0006-7595-2817
Jan WennemuthDepartment of Diagnostic Imaging, Veterinary Clinic Hofheim, 65719 Hofheim, Germany.ORCID 0009-0004-2997-5730
Julien GuevarSection of Clinical and Comparative Neuropathology, Centre for Clinical Veterinary Medicine, Ludwig Maximilians University, 80539 Munich, Germany.ORCID 0000-0001-9868-5703
Francesca DörnDepartment of Neurology, Veterinary Clinic Kalbach, 60437 Frankfurt, Germany.
Vidhya JagannathanInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0002-8155-0041
Tosso LeebInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0003-0553-4880

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary ataxias are a highly heterogenous group of diseases characterized by loss of coordination. In this study, we investigated a family of random-bred dogs, in which two siblings were affected by a slowly progressive ataxia. They presented with clinical signs of progressive cerebellar ataxia, hypermetria, and absent menace response. The MRI revealed generalized brain atrophy, reduced cortical demarcation, hypoplastic corpus callosum, and cerebellar folia thinning, highly suggestive of a neurodegenerative disorder. We sequenced the genomes of the two affected dogs and their unaffected parents. Filtering for protein-changing variants that had homozygous alternate genotypes in the affected dogs, heterozygous genotypes in the parents, and homozygous reference genotypes in 1576 control genomes yielded a single missense variant in the

Indexed as

Cerebellar AtaxiaDog DiseasesMutation, Missenserab GTP-Binding ProteinsAnimalsDogsFemaleGenotypeMalePedigreerab GTP-Binding Proteinsanimal modelCanis lupus familiarisCNSneurologyprecision medicineWGS

Identifiers

PMID40869982
PMCPMC12385749

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.