ArticleProceedings of the National Academy of Sciences of the United States of America2017
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in
Erratum issuedOpen access · bronzeAbstract read
In one paragraph
Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 106 papers.
0numbers the graph read from it
0cells of the map it votes in
106citing papers in PubMed
5.3field-weighted citation impact, top 3% of its field
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.
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.
Who cites it
106 citing papers in PubMed, 164 citations in OpenAlex.
- Regional and Compartmental Changes Drive Progressive Patterns of Striatal Degeneration in X-Linked Dystonia Parkinsonism.Annals of neurology · 2026Article
- Insights into X-linked Dystonia-Parkinsonism and Spinocerebellar Ataxia type 36 Through the Lens of Amyotrophic Lateral Sclerosis/Frontotemporal Dementia.Molecular neurobiology · 2026Review
- Unified long-read panel for Parkinson's and repeat expansion disorders.NPJ Parkinson's disease · 2026Article
- X-linked dystonia parkinsonism as a cause of isolated lingual dystonia (ILD).Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Striatal hyperechogenicity as an ultrasound imaging marker for prodromal X-linked dystonia-parkinsonism.NPJ Parkinson's disease · 2026Article
- Rare genetic diseases associated with G-quadruplex-induced replication stress.Communications biology · 2026Review
- The Tale of the Guanosine Tract in Repeat Expansion Disorders.Molecular neurobiology · 2026Review
- Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit.Genome research · 2026Article
- MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.American journal of human genetics · 2026Article
- Alterations in energy production in aFrontiers in aging neuroscience · 2026Article
- Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease and Lewy Body Dementia cohorts.NPJ Parkinson's disease · 2025Article
- TAF1 is required for fetal but not adult hematopoiesis in mice.Developmental cell · 2025Article
- The Other Side of the Same Coin: Beyond the Coding Region in Amyotrophic Lateral Sclerosis.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.medRxiv : the preprint server for health sciences · 2025Article
- Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism.bioRxiv : the preprint server for biology · 2025Article
- Myelin pathology is a key feature of X-linked Dystonia Parkinsonism.bioRxiv : the preprint server for biology · 2025Article
- The origin of mirror repeats in the human genome.Nucleic acids research · 2025Article
- Genetic Landscape of Dystonia in Asian Indians.Movement disorders clinical practice · 2025Article
- Analysis of targeted and whole genome sequencing of PacBio HiFi reads for a comprehensive genotyping of gene-proximal and phenotype-associated Variable Number Tandem Repeats.PLoS computational biology · 2025Article
- STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.Genome medicine · 2025Article
46 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
21 authors at 5 institutions in 3 countries.
D Cristopher BraggThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129; bragg@helix.mgh.harvard.edu lozelius@partners.org.
Kotchaphorn MangkalaphibanThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Christine A VaineThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Nichita J KulkarniThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
David ShinThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Rachita YadavThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Jyotsna DhakalThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Mai-Linh TonThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Anne ChengThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Christopher T RussoThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Mark AngDepartment of Pathology, College of Medicine, University of the Philippines, Manila, Manila, Philippines.
Patrick AcuñaThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Criscely GoDepartment of Neurology, Jose Reyes Memorial Medical Center, Quezon City, Philippines.
Taylor N FranceourThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Trisha Multhaupt-BuellThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Naoto ItoThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Ulrich MüllerInstitut für Humangenetik, Justus Liebig University Giessen, D-35392 Giessen, Germany.
William T HendriksThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Xandra O BreakefieldThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Nutan SharmaThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129.
Laurie J OzeliusThe Collaborative Center for X-linked Dystonia-Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129; bragg@helix.mgh.harvard.edu lozelius@partners.org.
Massachusetts General Hospital · USHarvard University · USJosé R. Reyes Memorial Medical Center · PHUniversity of Giessen · DEUniversity of the Philippines Manila · PH
Funding
TorsinA as a key link in receptor-mediated signalingP01NS087997 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI BREAKEFIELD, XANDRA OWENS, OZELIUS, LAURIE J. · 2015 to 2019
$6.4MAssembling the Genetic Architecture of X-linked Dystonia ParkinsonismR01NS102423 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI David Cristopher Bragg, Clotilde Lagier-Tourenne · 2017 to 2026
$5.4MNINDS NIH HHS P01 NS087997NINDS NIH HHS R01 NS102423
Abstract
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of
Indexed as
DNA Repeat ExpansionRetroelementsShort Interspersed Nucleotide ElementsDystonic DisordersGene OrderGenetic Association StudiesGenetic Diseases, X-LinkedGenetic LociHistone AcetyltransferasesHumansMaleModels, BiologicalPedigreePhenotypePromoter Regions, GeneticTATA-Binding Protein Associated FactorsHistone AcetyltransferasesRetroelementsTATA-binding protein associated factor 250 kDaTATA-Binding Protein Associated FactorsTranscription Factor TFIIDdystoniaDYT3Parkinson’s diseaseTAF1XDP
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
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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.