Evidence map›Paper›PMID 38168171›Full record

ArticlebioRxiv : the preprint server for biology2023

AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons.

Connor J Maltby, Amy Krans, Samantha J Grudzien, Yomira Palacios, Jessica Muiños, Andrea Suárez, Melissa Asher, Vikram Khurana, Sami J Barmada, Anke A Dijkstra and 1 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2023. 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, 7 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 4 institutions in 3 countries.

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.
Yomira PalaciosDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
Jessica MuiñosDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
Andrea SuárezDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
Melissa AsherDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.
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, The Netherlands.
Peter K ToddDepartment of Neurology, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-4781-6376
University of Michigan · USInternational Baccalaureate · CHAmsterdam Neuroscience · NLBroad Institute · US

Funding

The 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
$9.0M
CGG 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
$4.1M
RNA decay in amyotrophic lateral sclerosis and frontotemporal lobar degenerationR01NS097542 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BARMADA, SAMI · 2016 to 2025
$3.8M
Atypical TDP43 isoforrms driving neurodegeneration in FTD/ALSR01NS113943 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BARMADA, SAMI · 2020 to 2024
$1.9M
Repeat associated neurodegeneration in CANVASR21NS129096 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI TODD, PETER K · 2022 to 2022
$425k
Spatiotemporal analysis of TDP-43 toxicity and endolysosomal turnover mechanismsR56NS128110 · NINDS · UNIVERSITY OF ARIZONA · PI BARMADA, SAMI, BUCHAN, JOHN ROSS · 2022 to 2022
$393k
Bypassing cellular stress pathways in frontotemporal dementia and ALSI01BX004842 · VA · VETERANS HEALTH ADMINISTRATION · PI TODD, PETER K · 2020 to 2023
–
BLRD VA I01 BX004842NICHD NIH HHS P50 HD104463NINDS NIH HHS R01 NS086810NINDS NIH HHS R01 NS097542NINDS NIH HHS R01 NS113943NINDS NIH HHS R21 NS129096NINDS NIH HHS R56 NS128110
6 · The paper itself

Abstract

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a late onset, recessively inherited neurodegenerative disorder caused by biallelic, non-reference pentameric AAGGG(CCCTT) repeat expansions within the second intron of replication factor complex subunit 1 (

Indexed as

AtaxiaC9orf72 FTD/ALSFragile X-associated Tremor/Ataxia SyndromeFriedreich AtaxiaNeurodegenerationneuropathyNucleotide Repeat expansion disordersRAN translationRNA fociShort Tandem Repeats

Identifiers

PMID38168171
PMCPMC10760133
OpenAlexW4389725761

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.