The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.

Cicala G, Capasso A, Villa M, Coratti G, Arpaia C, Agosto C, Corti S, Ricci F, Bruno C, Matesanz S, Gross B, Mendoza DG, Kuntz N, Kirschner J, Ziegler A, Servais L, Asselman FL, van der Pol L, Castiglioni C, Nascimiento A, Tizzano EF, Mendonça RH, Zanoteli E, Munot P, Scoto M, Finkel R, Pane M, Tiziano FD, Mercuri E, ITASMAc group, International SMA group

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DOI: 10.1016/j.eclinm.2026.103931
Published: 2026 May
Container: EClinicalMedicine
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.eclinm.2026.103931,
  title = {The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.},
  author = {Cicala G and Capasso A and Villa M and Coratti G and Arpaia C and Agosto C and Corti S and Ricci F and Bruno C and Matesanz S and Gross B and Mendoza DG and Kuntz N and Kirschner J and Ziegler A and Servais L and Asselman FL and van der Pol L and Castiglioni C and Nascimiento A and Tizzano EF and Mendonça RH and Zanoteli E and Munot P and Scoto M and Finkel R and Pane M and Tiziano FD and Mercuri E and ITASMAc group and International SMA group},
  year = {2026},
  journal = {EClinicalMedicine},
  doi = {10.1016/j.eclinm.2026.103931},
  url = {https://doi.org/10.1016/j.eclinm.2026.103931}
}

RIS

TY  - JOUR
TI  - The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.
AU  - Cicala G
AU  - Capasso A
AU  - Villa M
AU  - Coratti G
AU  - Arpaia C
AU  - Agosto C
AU  - Corti S
AU  - Ricci F
AU  - Bruno C
AU  - Matesanz S
AU  - Gross B
AU  - Mendoza DG
AU  - Kuntz N
AU  - Kirschner J
AU  - Ziegler A
AU  - Servais L
AU  - Asselman FL
AU  - van der Pol L
AU  - Castiglioni C
AU  - Nascimiento A
AU  - Tizzano EF
AU  - Mendonça RH
AU  - Zanoteli E
AU  - Munot P
AU  - Scoto M
AU  - Finkel R
AU  - Pane M
AU  - Tiziano FD
AU  - Mercuri E
AU  - ITASMAc group
AU  - International SMA group
PY  - 2026
JO  - EClinicalMedicine
DO  - 10.1016/j.eclinm.2026.103931
UR  - https://doi.org/10.1016/j.eclinm.2026.103931
ER  -

APA

G, C., A, C., M, V., G, C., C, A., C, A., S, C., F, R., C, B., S, M., B, G., DG, M., N, K., J, K., A, Z., L, S., FL, A., L, V. D. P., C, C., A, N., EF, T., RH, M., E, Z., P, M., M, S., R, F., M, P., FD, T., E, M., group, I., & group, I. S. (2026). The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.. EClinicalMedicine. https://doi.org/10.1016/j.eclinm.2026.103931

Source records

pubmed · retrieved 2026-09-26T14:58:59.077Z