Evidence map›Paper›PMID 42312245›Full record

ArticleNeurology. Genetics2026

Expanding the Spectrum of

Mayu Ishiguro, Manabu Funayama, Daniel H Park, Taku Hatano, Tomoko Nakazato, Yue Luo, Monami Osawa, Yuanzhe Li, Hiroyo Yoshino, Nobutaka Hattori and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 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

11 authors.

Mayu IshiguroDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0009-0002-5348-1955
Manabu FunayamaDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0000-0002-7412-3631
Daniel H ParkInternational Collaborative Research Administration, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0009-0001-2782-9519
Taku HatanoDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0000-0002-6808-0444
Tomoko NakazatoDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0009-0002-7648-872X
Yue LuoDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0009-0003-8440-6218
Monami OsawaDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0009-0001-2562-3795
Yuanzhe LiDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0009-0005-7552-302X
Hiroyo YoshinoResearch Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0009-0002-6641-8728
Nobutaka HattoriDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0000-0002-2034-2556
Kazuaki KanaiDepartment of Neurology, Fukushima Medical University School of Medicine, Fukushima, Japan.ORCID https://orcid.org/0000-0002-2174-002X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Hemizygous variants in B-cell receptor-associated protein 31 ( Methods: We performed whole-exome sequencing in a family with 2 affected individuals who exhibited congenital hearing loss and adult-onset motor symptoms, including Parkinson disease (PD) and cerebellar ataxia. To assess the frequency of Results: Whole-exome sequencing identified a novel Discussion: This report links a

Identifiers

PMID42312245
PMCPMC13271104

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.