Evidence map›Paper›PMID 40546066›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2025

Screening of Hidden Pathogenic Structural Variants in PRKN.

Kensuke Daida, Guillaume Cogan, Christelle Tesson, Suzanne Lesage, Susen Schaake, Alexander Balck, Joanne Trinh, Katja Lohmann, Laksh Malik, Breeana Baker and 10 more

Abstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 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. Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025
    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

20 authors.

Kensuke DaidaMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0002-9177-9587
Guillaume CoganMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0003-3505-7114
Christelle TessonSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.ORCID https://orcid.org/0000-0001-7589-3710
Suzanne LesageSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Susen SchaakeInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Alexander BalckInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Joanne TrinhInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Katja LohmannInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.ORCID https://orcid.org/0000-0002-5121-1460
Laksh MalikCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Breeana BakerCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Kimberly PaquetteCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Abraham MollerCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Carolyn SueDepartment of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
Manabu FunayamaDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.ORCID https://orcid.org/0000-0002-7412-3631
Nobutaka HattoriDepartment of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Andrew SingletonMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Christine KleinInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Alexis BriceSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Institut National de la Recherche Médicale-U1127, Centre National de la Recherche Scientifique-UMR7225, APHP, Paris, France.
Kimberley J BillingsleyCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0002-8003-4029
Cornelis BlauwendraatMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0001-9358-8111

Funding

Long-read DNA sequencing of Alzheimers Disease and Related Dementias casesZIAAG000538 · NIA · NATIONAL INSTITUTE ON AGING · PI COOKSON, MARK · 2020 to 2025
$39.6M
Long-read DNA sequencing of Parkinson's disease and related disordersZIAAG000542 · NIA · NATIONAL INSTITUTE ON AGING · PI BLAUWENDRAAT, CORNELIS · 2023 to 2023
$270k
Intramural NIH HHS ZIA AG000538Intramural NIH HHS ZIA AG000542National Institute of Aging 1ZIAAG000538-04National Institute of Aging 1ZIAAG000542-01
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID40546066
PMCPMC12485573

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.