Dr Marianela Schiava
Dr John Bourke
Professor Jordi Diaz Manera
Anna Johnson
Dr Maha Elseed
et al. | Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy | 2025 |
|
Dr Pietro Riguzzi
Meredith James
Dr John Bourke
Professor Giorgio Tasca
Dr Marianela Schiava
et al. | Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines | 2025 |
|
Jose Verdú-Díaz
Dr Ana Topf
Dr Leonela Luce
Dr Jennifer Duff
Magdalena Mroczek
et al. | Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy | 2025 |
|
Professor Volker Straub
| Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants | 2025 |
|
Professor Patrick Chinnery
Professor Jordi Diaz Manera
Professor Rita Horvath
Professor Volker Straub
Dr Christina Trainor
et al. | Correction to: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses (Nature Medicine, (2025), 31, 2, (478-489), 10.1038/s41591-024-03420-w) | 2025 |
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Dr Maha Elseed
Dr James Sampson
Dr Tuomo Polvikoski
Matt Henderson
Yolande Parkhurst
et al. | Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy | 2025 |
|
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Ana Topf
Professor Volker Straub
| Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets | 2025 |
|
Professor Volker Straub
| Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy | 2025 |
|
Professor Volker Straub
Professor Giorgio Tasca
| Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy | 2025 |
|
Professor Jordi Diaz Manera
Professor Rita Horvath
Professor Hanns Lochmuller
Professor Volker Straub
Dr Christina Trainor
et al. | Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses | 2025 |
|
Dr Marianela Schiava
Dr Claire Wood
Robert Muni Lofra
Dr Anna Mayhew
Professor Michela Guglieri
et al. | Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy | 2025 |
|
Heather Hilsden
Daniel Cox
Professor Volker Straub
| High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2 | 2025 |
|
Sila Hopton
Dr Langping He
Dr Charlotte Alston
Professor Robert Taylor
Dr Ana Topf
et al. | Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland | 2025 |
|
Mark Richardson
Karen Wong
Dr Maha Elseed
Dionne Moat
Dr Lizzie Harris
et al. | Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data | 2025 |
|
Dr Marianela Schiava
Yolande Parkhurst
Dr Tuomo Polvikoski
Dr Pietro Riguzzi
Professor Giorgio Tasca
et al. | Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy | 2025 |
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