Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges

Nicolas Deltour, Seung Yeon Lee, Elizabeth M. Garry, Liza R. Gibbs, Shane McElwee, Renee M. Sajedian, Emmanuelle Jacquot, Siyana Kurteva, Anabel Ferreras, Annie Poll, Ben Porter, Rhian Davies, Jack Kennedy, Maggie C. Walter, Simone Thiele, Marlène Jagut, Marjan Cosyns, Liesbeth de Waele, Nicolas Deconinck, Jana Haberlová, Lenka Mokrá, Maria Grazia Cattinari, Eduardo F. Tizzano, Chiara Marini-Bettolo, Lindsay Murphy, Anne-Berit Ekström, Miriam Rodrigues, Anna Ambrosini, Victoria Hodgkinson, Michela Guglieri, Mencia de Lemus Belmonte, Kieran C. Breen, Laurent Servais, Unknown, Aurore Daron, Stephanie Delstanche, Laura Vanden Brande, Alain Maertens de Noordhout, Stéphanie Paquay, Van den Bergh, Vinciane Van Parys, Nicolas Dubuisson, Gauthier Remiche, Florence Christiaens, Jonathan Baets, Alicia Alonso-Jimenez, Diane Beysen, Véronique Bissay, Nathalie Smeets, Karine Pelc, Katrien De Braekeleer, Jan De Bleecker, Arnaud Vanlander, Sarah Herdewyn, Kristl Claeys, Geertrui Peirens, Philip Van Damme, Anna-Karin Kroksmark, Olesja Parmová, Lenka Juříková, Kryštof Prášil, Neil Bennett

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DOI: 10.1186/s13023-026-04491-3
Published: 2026-08-05
Container: Orphanet Journal of Rare Diseases
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1186/s13023-026-04491-3,
  title = {Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges},
  author = {Nicolas Deltour and Seung Yeon Lee and Elizabeth M. Garry and Liza R. Gibbs and Shane McElwee and Renee M. Sajedian and Emmanuelle Jacquot and Siyana Kurteva and Anabel Ferreras and Annie Poll and Ben Porter and Rhian Davies and Jack Kennedy and Maggie C. Walter and Simone Thiele and Marlène Jagut and Marjan Cosyns and Liesbeth de Waele and Nicolas Deconinck and Jana Haberlová and Lenka Mokrá and Maria Grazia Cattinari and Eduardo F. Tizzano and Chiara Marini-Bettolo and Lindsay Murphy and Anne-Berit Ekström and Miriam Rodrigues and Anna Ambrosini and Victoria Hodgkinson and Michela Guglieri and Mencia de Lemus Belmonte and Kieran C. Breen and Laurent Servais and Unknown and Aurore Daron and Stephanie Delstanche and Laura Vanden Brande and Alain Maertens de Noordhout and Stéphanie Paquay and Van den Bergh and Vinciane Van Parys and Nicolas Dubuisson and Gauthier Remiche and Florence Christiaens and Jonathan Baets and Alicia Alonso-Jimenez and Diane Beysen and Véronique Bissay and Nathalie Smeets and Karine Pelc and Katrien De Braekeleer and Jan De Bleecker and Arnaud Vanlander and Sarah Herdewyn and Kristl Claeys and Geertrui Peirens and Philip Van Damme and Anna-Karin Kroksmark and Olesja Parmová and Lenka Juříková and Kryštof Prášil and Neil Bennett},
  year = {2026},
  journal = {Orphanet Journal of Rare Diseases},
  doi = {10.1186/s13023-026-04491-3},
  url = {https://doi.org/10.1186/s13023-026-04491-3}
}

RIS

TY  - JOUR
TI  - Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges
AU  - Nicolas Deltour
AU  - Seung Yeon Lee
AU  - Elizabeth M. Garry
AU  - Liza R. Gibbs
AU  - Shane McElwee
AU  - Renee M. Sajedian
AU  - Emmanuelle Jacquot
AU  - Siyana Kurteva
AU  - Anabel Ferreras
AU  - Annie Poll
AU  - Ben Porter
AU  - Rhian Davies
AU  - Jack Kennedy
AU  - Maggie C. Walter
AU  - Simone Thiele
AU  - Marlène Jagut
AU  - Marjan Cosyns
AU  - Liesbeth de Waele
AU  - Nicolas Deconinck
AU  - Jana Haberlová
AU  - Lenka Mokrá
AU  - Maria Grazia Cattinari
AU  - Eduardo F. Tizzano
AU  - Chiara Marini-Bettolo
AU  - Lindsay Murphy
AU  - Anne-Berit Ekström
AU  - Miriam Rodrigues
AU  - Anna Ambrosini
AU  - Victoria Hodgkinson
AU  - Michela Guglieri
AU  - Mencia de Lemus Belmonte
AU  - Kieran C. Breen
AU  - Laurent Servais
AU  - Unknown
AU  - Aurore Daron
AU  - Stephanie Delstanche
AU  - Laura Vanden Brande
AU  - Alain Maertens de Noordhout
AU  - Stéphanie Paquay
AU  - Van den Bergh
AU  - Vinciane Van Parys
AU  - Nicolas Dubuisson
AU  - Gauthier Remiche
AU  - Florence Christiaens
AU  - Jonathan Baets
AU  - Alicia Alonso-Jimenez
AU  - Diane Beysen
AU  - Véronique Bissay
AU  - Nathalie Smeets
AU  - Karine Pelc
AU  - Katrien De Braekeleer
AU  - Jan De Bleecker
AU  - Arnaud Vanlander
AU  - Sarah Herdewyn
AU  - Kristl Claeys
AU  - Geertrui Peirens
AU  - Philip Van Damme
AU  - Anna-Karin Kroksmark
AU  - Olesja Parmová
AU  - Lenka Juříková
AU  - Kryštof Prášil
AU  - Neil Bennett
PY  - 2026
JO  - Orphanet Journal of Rare Diseases
DO  - 10.1186/s13023-026-04491-3
UR  - https://doi.org/10.1186/s13023-026-04491-3
ER  -

APA

Deltour, N., Lee, S. Y., Garry, E. M., Gibbs, L. R., McElwee, S., Sajedian, R. M., Jacquot, E., Kurteva, S., Ferreras, A., Poll, A., Porter, B., Davies, R., Kennedy, J., Walter, M. C., Thiele, S., Jagut, M., Cosyns, M., Waele, L. D., Deconinck, N., Haberlová, J., Mokrá, L., Cattinari, M. G., Tizzano, E. F., Marini-Bettolo, C., Murphy, L., Ekström, A., Rodrigues, M., Ambrosini, A., Hodgkinson, V., Guglieri, M., Belmonte, M. D. L., Breen, K. C., Servais, L., Unknown, Daron, A., Delstanche, S., Brande, L. V., Noordhout, A. M. D., Paquay, S., Bergh, V. D., Parys, V. V., Dubuisson, N., Remiche, G., Christiaens, F., Baets, J., Alonso-Jimenez, A., Beysen, D., Bissay, V., Smeets, N., Pelc, K., Braekeleer, K. D., Bleecker, J. D., Vanlander, A., Herdewyn, S., Claeys, K., Peirens, G., Damme, P. V., Kroksmark, A., Parmová, O., Juříková, L., Prášil, K., & Bennett, N. (2026). Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-026-04491-3

Source records

crossref · retrieved 2026-11-06T05:25:31.507Z