Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines
Retrospective analyses of clinical case records contribute to improved understanding of the variability of phenotypes of BMD. Combined with data from other large cohorts, these findings can contribute to the development of standard of care guidelines for BMD and inform the design of clinical trials of novel therapies.
Authors
- John Bourke (ORCID: https://orcid.org/0000-0001-7857-9073)
- Michela Guglieri (ORCID: https://orcid.org/0000-0002-8455-0637)
- Karen Lok Yi Wong (ORCID: https://orcid.org/0000-0002-4079-9123)
- Carla Bolaño Díaz
- Volker Straub (ORCID: https://orcid.org/0000-0001-9046-3540)
- Ariele Barreto Haagsma (ORCID: https://orcid.org/0000-0001-7602-7953)
- Pietro Riguzzi (ORCID: https://orcid.org/0009-0006-0241-2174)
- Doaa O. Salman (ORCID: https://orcid.org/0000-0001-8784-6022)
- Marianela Schiava (ORCID: https://orcid.org/0000-0002-2709-265X)
- M. James (ORCID: https://orcid.org/0000-0001-8078-7744)
- Elizabeth Harris (ORCID: https://orcid.org/0000-0002-4489-3977)
- Luca Bello (ORCID: https://orcid.org/0000-0002-3075-6525)
- C. Geagan
- D. Moat
- Tara Reeves
- J. Michell-Sodhi
- Giorgio Tasca (ORCID: https://orcid.org/0000-0003-0849-9144)
- Emma C. Robinson (ORCID: https://orcid.org/0000-0002-7886-3426)
- Robert Muni‐Lofra (ORCID: https://orcid.org/0000-0002-8901-9140)
- Ana Töpf (ORCID: https://orcid.org/0000-0002-9227-2526)
- Jordi Díaz‐Manera (ORCID: https://orcid.org/0000-0003-2941-7988)
- Holly Borland (ORCID: https://orcid.org/0000-0003-4296-4556)
- C. Marini Bettolo
- G. Kocak
- Michelle McCallum
- M. Elseed (ORCID: https://orcid.org/0009-0004-8251-882X)
- Elena Pegoraro
- Emma Grover
- P. Waldock
Institutions
- University of Padua (IT)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- NIHR Newcastle Biomedical Research Centre (GB)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2025-06-07
- DOI
- https://doi.org/10.1007/s00415-025-13126-9
- Citations
- 3
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- Pfizer
- Sanofi
- Biogen
- Alexion Pharmaceuticals
- PTC Therapeutics
- Sarepta Therapeutics
- Argenx
- National Institute for Health and Care Research
- Department of Health and Social Care
- Newcastle University
- Italfarmaco
- NIHR Newcastle Biomedical Research Centre