In one paragraphArticle in medRxiv : the preprint server for health sciences, 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 itWhat 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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
40 authors.
Catalina Cerquera-ClevesNeurology Unit, Department of Neurosciences, Hospital Universitario San Ignacio, Bogotá, Colombia.ORCID 0000-0002-3874-0261 Ai Huey TanDivision of Neurology, Department of Medicine, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0002-2979-3839 Shen-Yang LimDivision of Neurology, Department of Medicine, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0002-6942-2522 Njideka U OkubadejoNeurology Unit, Department of Medicine, College of Medicine, University of Lagos, Lagos State, Nigeria.ORCID 0000-0003-2975-8803 Azlina Ahmad-AnnuarDepartment of Biomedical Science, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0001-6329-4366 Viorica ChelbanUK Dementia Research Institute Parkinson's Research Centre at UCL, London, WC1N 3BG, UK.ORCID 0000-0002-5817-6290 Henry HouldenUK Dementia Research Institute Parkinson's Research Centre at UCL, London, WC1N 3BG, UK.ORCID 0000-0002-2866-7777 Zane JaunmuktaneDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-7738-8881 Patrick W CullinaneDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-4360-2680 Thomas WarnerDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-6195-6995 Johanna JunkerDepartment of Neurology, University Hospital Schleswig Holstein, University of Luebeck, Luebeck, Germany.ORCID 0000-0003-0756-9569 Yuliia KananaInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Ignacio J Keller SarmientoDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0003-0979-6001 Pin-Jui KungDivision of Plastic Surgery, Department of Surgery, National Taiwan University Hospital, Taipei, Taiwan.ORCID 0000-0001-8369-0227 Niccoló E MencacciDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Mike A NallsDataTecnica, Washington, DC, USA.
Raquel RealDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-8117-742X Joanne TrinhInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Lesley Y WuDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-5464-5603 Huw R MorrisDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-5473-3774 Katja LohmannInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Global Parkinson’s Genetics Program (GP2)
Funding
STRIDESOT2OD027852 · OD · FOUR POINTS TECHNOLOGY, LLC · PI Joel A Lipkin · 2018 to 2026
$255.6MSTRIDES OT2OD027060 · OD · CARAHSOFT TECHNOLOGY CORPORATION · PI Terry Drinkwine · 2018 to 2026
$134.1MNIH STRIDES - Azure and Associated Services and Training.OT2OD032100 · OD · DELL FEDERAL SYSTEMS L.P. · PI Amy K HammondOdwyer, Erum Siddiqui · 2021 to 2026
$62.2MUnderstanding the role of BORCS5 in neuronal lysosomal function and neurodegenerationK08NS131581 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Niccolo E Mencacci · 2024 to 2026
$673kNIH HHS OT2 OD027060NIH HHS OT2 OD027852NIH HHS OT2 OD032100NINDS NIH HHS K08 NS131581Wellcome Trust
6 · The paper itselfAbstract
Expanded short tandem repeats contribute to a broad spectrum of neurodegenerative diseases, yet their roles in Parkinson's disease (PD) and parkinsonism remain incompletely characterized, especially across diverse ancestries. We analyzed short-read whole-genome (WGS) and clinical exome sequencing (CES) data from 38,365 individuals (28,861 WGS; 9,504 CES), encompassing 23,242 patients with PD, 4,729 patients with atypical parkinsonism and 10,394 healthy controls from 11 genetic ancestries. To determine carrier frequencies and characterize repeat structures across diverse ancestries, we genotyped 12 established pathogenic loci where normal, intermediate, and pathogenic alleles can be reliably differentiated using short-read sequencing data. Additionally, we conducted threshold-based associations to determine the minimum threshold associated with increased PD risk in 15,995 individuals (8,591 PD, 7,404 controls) of European ancestry. Pathogenic repeat expansions were detected in 62 patients (56 PD and 6 atypical parkinsonism) and 5 controls across seven loci (
Indexed as
associationPDpolyglutaminerepeat interruptionrepeat length
Identifiers
PMID42396269
PMCPMC13321217
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