ArticleScience advances2024
AAGGG repeat expansions trigger
Erratum issuedAbstract read
In one paragraph
Article in Science advances, 2024. 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 13 papers.
0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
What it found
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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
13 citing papers in PubMed.
- Altered neuronal start codon stringency favors cap-independent repeat-associated non-AUG translation.Nucleic acids research · 2026Article
- The Genetic Architecture of Chronic Cough: From Sensory Hypersensitivity to Treatable Trait.Pulmonary therapy · 2026Review
- Altered neuronal start codon stringency favors cap-independent repeat-associated non-AUG translation.bioRxiv : the preprint server for biology · 2026Article
- Metformin improves RAN protein pathology, alternative splicing, and behavioral phenotypes in SCA8 mice.Life science alliance · 2026Article
- Repeat-associated non-AUG translation as a common mechanism for the polyGln ataxias.Cell reports · 2026Article
- Pentanucleotide guanine-rich WGGGW repeats, including CANVAS AGGGA repeats, form a variety of noncanonical structures.Nucleic acids research · 2026Article
- RFC1 regulates the expansion of neural progenitors in the developing zebrafish cerebellum.Nature communications · 2025Article
- The molecular landscape of hereditary ataxia: a single-center study.Human genetics · 2025Article
- Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease.NPJ Parkinson's disease · 2025Article
- Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing.Nucleic acids research · 2025Article
- Elucidating the pathobiology of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) with its expanded RNA structure formation and proteinopathy.Scientific reports · 2024Article
- Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease.NAR molecular medicine · 2024Article
- Structural polymorphism of the nucleic acids in pentanucleotide repeats associated with the neurological disorder CANVAS.The Journal of biological chemistry · 2024Article
Corrections and comments
- Erratum issued
- Update of
Authors and funding
17 authors.
Connor J MaltbyDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-2746-9055
Amy KransDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
Samantha J GrudzienDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-2085-3222
Yomira PalaciosDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-9968-2085
Jessica MuiñosDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.ORCID 0009-0000-0332-6178
Andrea SuárezDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
Melissa AsherDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-9074-557X
Sydney WilleyDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.ORCID 0009-0005-4263-7848
Kinsey Van DeynzeDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-9186-9881
Camille MummDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-7585-9851
Alan P BoyleDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-2081-1105
Andrea CorteseDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Alain NdayisabaDepartment of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-7611-7115
Vikram KhuranaDepartment of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Sami J BarmadaDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-9604-968X
Anke A DijkstraDepartment of Pathology, Amsterdam UMC, Amsterdam Neuroscience, Amsterdam, Netherlands.ORCID 0000-0003-2160-587X
Peter K ToddDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-4781-6376
Funding
University of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4MThe FMR1 CGG repeat as functional element and therapeutic target in Fragile X associated disordersP50HD104463 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN · 2020 to 2024
$9.0MUniversity of Michigan Postbaccalaureate Research Education Program (UM PREP)R25GM086262 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ALLEN, BENJAMIN · 2009 to 2024
$6.1MCGG repeat associated translation in Fragile X-associated Tremor/Ataxia Syndrome-Diversity SupplementR01NS086810 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI TODD, PETER K · 2014 to 2024
$4.1MRNA decay in amyotrophic lateral sclerosis and frontotemporal lobar degenerationR01NS097542 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BARMADA, SAMI · 2016 to 2025
$3.8MAtypical TDP43 isoforrms driving neurodegeneration in FTD/ALSR01NS113943 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BARMADA, SAMI · 2020 to 2024
$1.9MRepeat associated neurodegeneration in CANVASR21NS129096 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI TODD, PETER K · 2022 to 2022
$425kSpatiotemporal analysis of TDP-43 toxicity and endolysosomal turnover mechanismsR56NS128110 · NINDS · UNIVERSITY OF ARIZONA · PI BARMADA, SAMI, BUCHAN, JOHN ROSS · 2022 to 2022
$393kBypassing cellular stress pathways in frontotemporal dementia and ALSI01BX004842 · VA · VETERANS HEALTH ADMINISTRATION · PI TODD, PETER K · 2020 to 2023
–BLRD VA I01 BX004842Medical Research Council MR/T001712/1NHGRI NIH HHS T32 HG000040NICHD NIH HHS P50 HD104463NIGMS NIH HHS R25 GM086262NINDS NIH HHS R01 NS086810NINDS NIH HHS R01 NS097542NINDS NIH HHS R01 NS113943NINDS NIH HHS R21 NS129096NINDS NIH HHS R56 NS128110
Abstract
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative disorder caused by intronic biallelic, nonreference CCCTT/AAGGG repeat expansions within
Indexed as
Cerebellar AtaxiaDNA Repeat ExpansionInduced Pluripotent Stem CellsNeuronsReplication Protein CSynapsesAllelesBilateral VestibulopathyHumansVestibular DiseasesReplication Protein CRFC1 protein, human
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What Socratic holds
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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 Socratic graph.