Evidence map›Paper›PMID 41145152›Full record

ArticleArquivos de neuro-psiquiatria2025

Comprehensive phenotyping of RFC1-related disorder: integrating electrophysiological, brain imaging, and otoneurological data in deep phenotyping.

André Aires Fernandes, Pedro L Alexandre, Sofia Vedor, Rita Figueiredo, Pedro Marques, Luís Braz

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Arquivos de neuro-psiquiatria, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

André Aires FernandesUnidade Local de Saúde de São João, Serviço de Neurologia, Porto, Portugal.ORCID 0000-0002-2975-9323
Pedro L AlexandreUnidade Local de Saúde de São João, Serviço de Otorrinolaringologia, Porto, Portugal.ORCID 0000-0002-7579-3733
Sofia VedorUnidade Local de Saúde de São João, Serviço de Neuroradiologia, Porto, Portugal.ORCID 0000-0001-7421-5459
Rita FigueiredoUnidade Local de Saúde de São João, Serviço de Neuroradiologia, Porto, Portugal.ORCID 0009-0008-2865-0888
Pedro MarquesUnidade Local de Saúde de São João, Serviço de Otorrinolaringologia, Porto, Portugal.ORCID 0000-0003-1132-3983
Luís BrazUnidade Local de Saúde de São João, Serviço de Neurologia, Porto, Portugal.ORCID 0000-0002-3312-4283

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The syndrome defined by cerebellar ataxia, neuropathy, and vestibular areflexia (CANVAS) has been previously described as a cause of late-onset ataxia. With the discovery of biallelic expansion in the replication factor C subunit 1 (

Indexed as

Cerebellar AtaxiaReplication Protein CAdultAgedCaloric TestsElectromyographyFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedNeurologic ExaminationPhenotypeRetrospective StudiesYoung AdultReplication Protein C

Identifiers

PMID41145152
PMCPMC12558705

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.