EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe Plançon, Jana Haberlova, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, Elisabeth Vroom, Mark D. Wilkinson, Hanns Lochmuller, Teresinha Evangelista

Open source

DOI: 10.1186/s13023-024-03059-3
Published: 2024-02-14
Container: Orphanet Journal of Rare Diseases
Publisher: Springer Science and Business Media LLC
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:10.1186/s13023-024-03059-3,
  title = {EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders},
  author = {Antonio Atalaia and Dagmar Wandrei and Nawel Lalout and Rachel Thompson and Adrian Tassoni and Peter A. C. ’t Hoen and Dimitrios Athanasiou and Suzie-Ann Baker and Paraskevi Sakellariou and Georgios Paliouras and Carla D’Angelo and Rita Horvath and Michelangelo Mancuso and Nadine van der Beek and Cornelia Kornblum and Janbernd Kirschner and Davide Pareyson and Guillaume Bassez and Laura Blacas and Maxime Jacoupy and Catherine Eng and François Lamy and Jean-Philippe Plançon and Jana Haberlova and Esther Brusse and Janneke G. J. Hoeijmakers and Marianne de Visser and Kristl G. Claeys and Carmen Paradas and Antonio Toscano and Vincenzo Silani and Melinda Gyenge and Evy Reviers and Dalil Hamroun and Elisabeth Vroom and Mark D. Wilkinson and Hanns Lochmuller and Teresinha Evangelista},
  year = {2024},
  journal = {Orphanet Journal of Rare Diseases},
  doi = {10.1186/s13023-024-03059-3},
  url = {https://doi.org/10.1186/s13023-024-03059-3}
}

RIS

TY  - JOUR
TI  - EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
AU  - Antonio Atalaia
AU  - Dagmar Wandrei
AU  - Nawel Lalout
AU  - Rachel Thompson
AU  - Adrian Tassoni
AU  - Peter A. C. ’t Hoen
AU  - Dimitrios Athanasiou
AU  - Suzie-Ann Baker
AU  - Paraskevi Sakellariou
AU  - Georgios Paliouras
AU  - Carla D’Angelo
AU  - Rita Horvath
AU  - Michelangelo Mancuso
AU  - Nadine van der Beek
AU  - Cornelia Kornblum
AU  - Janbernd Kirschner
AU  - Davide Pareyson
AU  - Guillaume Bassez
AU  - Laura Blacas
AU  - Maxime Jacoupy
AU  - Catherine Eng
AU  - François Lamy
AU  - Jean-Philippe Plançon
AU  - Jana Haberlova
AU  - Esther Brusse
AU  - Janneke G. J. Hoeijmakers
AU  - Marianne de Visser
AU  - Kristl G. Claeys
AU  - Carmen Paradas
AU  - Antonio Toscano
AU  - Vincenzo Silani
AU  - Melinda Gyenge
AU  - Evy Reviers
AU  - Dalil Hamroun
AU  - Elisabeth Vroom
AU  - Mark D. Wilkinson
AU  - Hanns Lochmuller
AU  - Teresinha Evangelista
PY  - 2024
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/s13023-024-03059-3
UR  - https://doi.org/10.1186/s13023-024-03059-3
ER  -

APA

Atalaia, A., Wandrei, D., Lalout, N., Thompson, R., Tassoni, A., Hoen, P. A. C. ’., Athanasiou, D., Baker, S., Sakellariou, P., Paliouras, G., D’Angelo, C., Horvath, R., Mancuso, M., Beek, N. V. D., Kornblum, C., Kirschner, J., Pareyson, D., Bassez, G., Blacas, L., Jacoupy, M., Eng, C., Lamy, F., Plançon, J., Haberlova, J., Brusse, E., Hoeijmakers, J. G. J., Visser, M. D., Claeys, K. G., Paradas, C., Toscano, A., Silani, V., Gyenge, M., Reviers, E., Hamroun, D., Vroom, E., Wilkinson, M. D., Lochmuller, H., & Evangelista, T. (2024). EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-024-03059-3

Source records

crossref · retrieved 2026-09-25T10:44:02.698Z