Evidence map›Paper›PMID 42788121›Full record

ArticleNeurology. Genetics2026

Hiroya Naruse, Jun Mitsui, Hiroyuki Ishiura, So Okubo, Chiharu Yoshida, Akihiko Mitsutake, Kyoko Maruta, Yuichi Uchida, Yasuyuki Nobuhara, Hayato Okabe and 26 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

36 authors.

Hiroya NaruseDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-1190-0499
Jun MitsuiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0001-7425-4765
Hiroyuki IshiuraDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0003-2975-7309
So OkuboDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-7883-8300
Chiharu YoshidaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0009-0004-5843-7499
Akihiko MitsutakeDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-9165-0193
Kyoko MarutaDepartment of Neurology, National Hospital Organization Minamikyushu National Hospital, Kagoshima, Japan.ORCID https://orcid.org/0009-0007-7611-0440
Yuichi UchidaDepartment of Neurology, National Hospital Organization Minamikyushu National Hospital, Kagoshima, Japan.ORCID https://orcid.org/0009-0006-1465-0057
Yasuyuki NobuharaDepartment of Neurology, National Hospital Organization Minamikyushu National Hospital, Kagoshima, Japan.ORCID https://orcid.org/0009-0009-0652-6920
Hayato OkabeDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0009-0004-1684-7377
Yumiko NakamuraDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0009-0001-1197-0657
Ryoei SuzukiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0009-0009-5646-2742
Yuto HottaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0009-0000-2953-5760
Takashi MatsukawaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-5925-9450
Hiroshi TsukamotoDepartment of Neurology, Teikyo University Hospital, Tokyo, Japan.ORCID https://orcid.org/0009-0006-0026-8244
Yasuomi KawamuraDepartment of Neurology, Teikyo University Hospital, Tokyo, Japan.ORCID https://orcid.org/0009-0001-1156-9636
Kenju HaraDepartment of Neurology, Akita Red Cross Hospital, Japan.ORCID https://orcid.org/0000-0002-9068-9483
Yuhei TakadoDepartment of Neurology, Akita Red Cross Hospital, Japan.ORCID https://orcid.org/0000-0001-7484-8424
Mami KanzakiDepartment of Neurology, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, Tokyo, Japan.ORCID https://orcid.org/0000-0002-6170-6491
Yoshikazu UesakaDepartment of Neurology, Toranomon Hospital and Okinaka Memorial Institute for Medical Research, Tokyo, Japan.ORCID https://orcid.org/0000-0003-3587-0113
Akiko IshiiNational Hospital Organization Iwaki Hospital, Fukushima, Japan.ORCID https://orcid.org/0000-0002-5719-1106
Akihiro KitamuraDepartment of Neurology, Shiga University of Medical Science, Japan.ORCID https://orcid.org/0000-0002-0099-3319
Makoto UrushitaniDepartment of Neurology, Shiga University of Medical Science, Japan.ORCID https://orcid.org/0000-0003-2773-9836
Yuji TakahashiDepartment of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID https://orcid.org/0000-0001-5335-7757
Akatsuki KubotaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0001-5623-3602
Meiko MaedaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-3725-3488
Jun ShimizuDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-9828-6494
Yuichiro ShirotaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0001-7205-0814
Masashi HamadaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-2866-8067
Wataru SatakeDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0001-6604-555X
Toyomasa KatagiriNational Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Japan.ORCID https://orcid.org/0000-0001-5086-7444
Shokichi TakahamaCenter for Intractable Diseases and ImmunoGenomics, National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Japan.ORCID https://orcid.org/0000-0002-5651-4217
Takuya YamamotoCenter for Intractable Diseases and ImmunoGenomics, National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Japan.ORCID https://orcid.org/0000-0003-3753-1211
Shoji TsujiInstitute of Medical Genomics, International University of Health and Welfare, Chiba, Japan; and.ORCID https://orcid.org/0000-0001-5602-5686
Yusuke NakamuraNational Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Japan.ORCID https://orcid.org/0000-0003-2956-382X
Tatsushi TodaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-0717-1123

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Non-5q spinal muscular atrophy (SMA) is genetically heterogeneous, yet many adult-onset cases remain molecularly undiagnosed. CGG repeat expansions in the 5' untranslated region of Methods: In this observational case series, we enrolled 8 consecutive, genetically unresolved families that met prespecified criteria for adult-onset non-5q SMA after exclusion of known genetic causes of SMA and familial ALS by comprehensive genetic evaluation, including whole-exome sequencing. Results: Monoallelic Discussion: We identified

Identifiers

PMID42788121
PMCPMC13609829

What OpenQuestion holds

Textmetadata
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.