Evidence map›Paper›PMID 42328312›Full record

ArticleDementia & neuropsychologia2026

When exome analysis is the key for your patient with cognitive decline: a case report.

Antonio Avelino Mendes, Igor Fortunato da Silva, Daniel Santos Uchoa, Isabela Caldeira de Oliveira, Julian Leticia de Freitas, Maria Sheila Guimarães Rocha, Sonia Maria Dozzi Brucki

Abstract readCase Reports
In one paragraph

Article in Dementia & neuropsychologia, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Antonio Avelino MendesHospital Santa Marcelina, Departamento de Neurologia, São Paulo SP, Brazil.ORCID https://orcid.org/0009-0005-0161-3188
Igor Fortunato da SilvaHospital Santa Marcelina, Departamento de Neurologia, São Paulo SP, Brazil.ORCID https://orcid.org/0000-0003-3277-3297
Daniel Santos UchoaHospital Santa Marcelina, Departamento de Neurologia, São Paulo SP, Brazil.ORCID https://orcid.org/0000-0003-0456-4471
Isabela Caldeira de OliveiraHospital Santa Marcelina, Departamento de Neurologia, São Paulo SP, Brazil.ORCID https://orcid.org/0009-0005-0136-2577
Julian Leticia de FreitasHospital Santa Marcelina, Departamento de Neurologia, São Paulo SP, Brazil.ORCID https://orcid.org/0000-0002-7119-3423
Maria Sheila Guimarães RochaHospital Santa Marcelina, Departamento de Neurologia, São Paulo SP, Brazil.ORCID https://orcid.org/0000-0003-4312-3994
Sonia Maria Dozzi BruckiHospital Santa Marcelina, Departamento de Neurologia, São Paulo SP, Brazil.ORCID https://orcid.org/0000-0002-8303-6732

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Vanishing white matter (VWM) disease is a leukodystrophy caused by mutations in

Indexed as

Cognitive DysfunctionEukaryotic Initiation Factor-2BGenetics.Leukoencephalopathies

Identifiers

PMID42328312
PMCPMC13277367

What OpenQuestion holds

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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.