Evidence map›Paper›PMID 40585812›Full record

ArticleBrain communications2025

Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of

Mathieu Barbier, Thomas Gareau, Agnès Camuzat, Marine Guillaud-Bataille, Susana Boluda, Fabienne Clot, Lara Araktingi, Barbara Borroni, Julie van der Zee, Roberta Ghidoni and 15 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain communications, 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

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors.

Mathieu BarbierSorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.ORCID https://orcid.org/0000-0002-5154-2163
Thomas GareauSorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.ORCID https://orcid.org/0009-0001-1139-3626
Agnès CamuzatSorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.
Marine Guillaud-BatailleDepartment of Medical Genetics, AP-HP Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris 75013, France.
Susana BoludaSorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.
Fabienne ClotDepartment of Medical Genetics, AP-HP Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris 75013, France.
Lara AraktingiSorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.
Barbara BorroniDepartment of Clinical and Experimental Sciences, Centre for Neurodegenerative Disorders, University of Brescia, Brescia 25100, Italy.
Julie van der ZeeNeurodegenerative Brain Diseases, VIB-UAntwerp Center for Molecular Neurology, VIB, Antwerp B-2610, Belgium.
Roberta GhidoniMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25100, Italy.
Sonia BelliniMolecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25100, Italy.ORCID https://orcid.org/0000-0002-6162-252X
Daniela GalimbertiDepartment of Biomedical, Surgical and Dental Sciences, University of Milan, Milan 20122, Italy.
Giacomina RossiUnit of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
Benedetta NacmiasDepartment of Neuroscience, Psychology, Drug Research and Child Health University of Florence Azienda Ospedaliero-Universitaria CareggiViale, Florence 50100, Italy.
Beatriz De la Casa-FagesNeurology Department, Movement Disorders Unit, Hospital General Universitario Gregorio Maranon, Madrid 28007, Spain.
Pau PastorDepartment of Neurology, Unit of Neurodegenerative Diseases, University Hospital Germans Trias i Pujol and The Germans Trias i Pujol Research Institute (IGTP) Badalona, Barcelona 08916, Spain.ORCID https://orcid.org/0000-0002-7493-8777
French Clinical and Genetic Research Network on FTD/FTD-ALS and PrevDemALS Study Groups
Morwena LatoucheSorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.
Eric le GuernDepartment of Medical Genetics, AP-HP Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris 75013, France.
Alexandra DurrSorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.ORCID https://orcid.org/0000-0002-8921-7104
Annie LaquerrièreDepartment of Pathology, Normandie Université, INSERM U1245, Rouen University Hospital, Rouen 76000, France.
Rob MocciaRare Disease Research Unit, Pfizer Inc., Cambridge, MA 02139, USA.
Danielle SeilheanSorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.
Victoria AlvarezLaboratory of Genetics, Hospital Universitario Central de Asturias, Oviedo 33011, Spain.ORCID https://orcid.org/0000-0002-1916-2523
Isabelle Le BerSorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, DMU Neuroscience, Paris 75013, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Carriers of the GGGGCC pathogenic expansion in

Indexed as

amyotrophic lateral sclerosisC9orf72frontotemporal dementiahuntingtinwhole-genome sequencing

Identifiers

PMID40585812
PMCPMC12204198

What OpenQuestion holds

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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.