Evidence map›Paper›PMID 40463055›Full record

ArticlebioRxiv : the preprint server for biology2025

Alan Mejia Maza, Madison Hincher, Kevin Correia, Tammy Gillis, Ayumi Nishiyama, Ellen B Penney, Aloysius Domingo, Rachita Yadav, Micaela G Murcar, Patrick D Villafria Mercado and 16 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. 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

5 · Who and what money

Authors and funding

26 authors.

Alan Mejia MazaDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-3154-7338
Madison HincherDepartment of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.
Kevin CorreiaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Tammy GillisCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Ayumi NishiyamaDepartment of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.
Ellen B PenneyDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Aloysius DomingoDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Rachita YadavDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Micaela G MurcarDepartment of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.
Patrick D Villafria MercadoDepartment of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.
Justin S HanDepartment of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.
Ean P NorenbergDepartment of Neurology, The Collaborative Center for X-linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.
Cara Fernandez-CeradoSunshine Care Foundation, Roxas City, Capiz, Philippines.
G Paul LegardaSunshine Care Foundation, Roxas City, Capiz, Philippines.
Michelle SySunshine Care Foundation, Roxas City, Capiz, Philippines.
Edwin MuñozDepartment of Pathology, College of Medicine, University of the Philippines, Manila, Philippines.
Mark C AngDepartment of Pathology, College of Medicine, University of the Philippines, Manila, Philippines.
Cid Czarina E DiestaMovement Center of Makati Institute of Neurological, Neurosurgical and Behavioral Sciences (MINDS), Makati, Philippines.
Criscely GoDepartment of Neurology, Jose R. Reyes Memorial Medical Center, Metro Manila, Philippines.
Nutan SharmaDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
D Cristopher BraggDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Michael E TalkowskiDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-2889-0992
Marcy E MacDonaldDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Jong-Min LeeDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-5799-0787
Laurie J OzeliusDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Vanessa Chantal WheelerDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0009-0004-8259-5796

Funding

Huntington's Disease Repeat Instability and PathogenesisR01NS049206 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI VANESSA C WHEELER · 2005 to 2026
$10.0M
Disease-Modifying Genes in Huntington's DiseaseR01NS091161 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI JAMES F GUSELLA · 2015 to 2026
$7.2M
Assembling the Genetic Architecture of X-linked Dystonia ParkinsonismR01NS102423 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI David Cristopher Bragg, Clotilde Lagier-Tourenne · 2017 to 2026
$5.4M
NINDS NIH HHS R01 NS049206NINDS NIH HHS R01 NS091161NINDS NIH HHS R01 NS102423
6 · The paper itself

Abstract

X-linked dystonia parkinsonism (XDP) is a progressive adult-onset neurogenerative disorder caused by the insertion of a SINE-VNTR-Alu (SVA) retrotransposon in

Indexed as

genetic modifiersMSH3somatic instabilityXDP

Identifiers

PMID40463055
PMCPMC12132400

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.