The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort

Danique Beijer, David Mengel, Demet Önder, Carlo Wilke, Andreas Traschütz, Jennifer Faber, Dagmar Timmann, Sylvia Boesch, Stefan Vielhaber, Thomas Klopstock, Bart P. van de Warrenburg, Gabriella Silvestri, Christoph Kamm, Iselin Marie Wedding, Zofia Fleszar, Florian Harmuth, Claudia Dufke, Bernard Brais, Olaf Rieß, Ludger Schöls, Tobias Haack, Stephan Züchner, David Pellerin, Friedrich Erdlenbruch, Andreas Thieme, Judith van Gaalen, Christos Ganos, Jun-Suk Kang, Marcus Grobe-Einsler, Ilaria Giordano, Thomas Klockgether, Matthis Synofzik

Open source

DOI: 10.1016/j.ebiom.2025.105715
Published: 2025-05
Container: eBioMedicine
Publisher: Elsevier BV
Open access: unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1016/j.ebiom.2025.105715,
  title = {The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort},
  author = {Danique Beijer and David Mengel and Demet Önder and Carlo Wilke and Andreas Traschütz and Jennifer Faber and Dagmar Timmann and Sylvia Boesch and Stefan Vielhaber and Thomas Klopstock and Bart P. van de Warrenburg and Gabriella Silvestri and Christoph Kamm and Iselin Marie Wedding and Zofia Fleszar and Florian Harmuth and Claudia Dufke and Bernard Brais and Olaf Rieß and Ludger Schöls and Tobias Haack and Stephan Züchner and David Pellerin and Friedrich Erdlenbruch and Andreas Thieme and Judith van Gaalen and Christos Ganos and Jun-Suk Kang and Marcus Grobe-Einsler and Ilaria Giordano and Thomas Klockgether and Matthis Synofzik},
  year = {2025},
  journal = {eBioMedicine},
  doi = {10.1016/j.ebiom.2025.105715},
  url = {https://doi.org/10.1016/j.ebiom.2025.105715}
}

RIS

TY  - JOUR
TI  - The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort
AU  - Danique Beijer
AU  - David Mengel
AU  - Demet Önder
AU  - Carlo Wilke
AU  - Andreas Traschütz
AU  - Jennifer Faber
AU  - Dagmar Timmann
AU  - Sylvia Boesch
AU  - Stefan Vielhaber
AU  - Thomas Klopstock
AU  - Bart P. van de Warrenburg
AU  - Gabriella Silvestri
AU  - Christoph Kamm
AU  - Iselin Marie Wedding
AU  - Zofia Fleszar
AU  - Florian Harmuth
AU  - Claudia Dufke
AU  - Bernard Brais
AU  - Olaf Rieß
AU  - Ludger Schöls
AU  - Tobias Haack
AU  - Stephan Züchner
AU  - David Pellerin
AU  - Friedrich Erdlenbruch
AU  - Andreas Thieme
AU  - Judith van Gaalen
AU  - Christos Ganos
AU  - Jun-Suk Kang
AU  - Marcus Grobe-Einsler
AU  - Ilaria Giordano
AU  - Thomas Klockgether
AU  - Matthis Synofzik
PY  - 2025
JO  - eBioMedicine
DO  - 10.1016/j.ebiom.2025.105715
UR  - https://doi.org/10.1016/j.ebiom.2025.105715
ER  -

APA

Beijer, D., Mengel, D., Önder, D., Wilke, C., Traschütz, A., Faber, J., Timmann, D., Boesch, S., Vielhaber, S., Klopstock, T., Warrenburg, B. P. V. D., Silvestri, G., Kamm, C., Wedding, I. M., Fleszar, Z., Harmuth, F., Dufke, C., Brais, B., Rieß, O., Schöls, L., Haack, T., Züchner, S., Pellerin, D., Erdlenbruch, F., Thieme, A., Gaalen, J. V., Ganos, C., Kang, J., Grobe-Einsler, M., Giordano, I., Klockgether, T., & Synofzik, M. (2025). The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort. eBioMedicine. https://doi.org/10.1016/j.ebiom.2025.105715

Source records

crossref · retrieved 2026-09-25T20:30:22.266Z