Dr Leonela Luce
Dr Goknur Kocak
Jose Verdú-Díaz
Professor Volker Straub
Dr Ana Topf
et al. | Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies | 2026 |
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Matt Birkbeck
Dr Ian Schofield
Dr Ian Wilson
Dr Julie Hall
Professor Chiara Marini Bettolo
et al. | Motor unit magnetic resonance imaging (MUMRI) as a novel biomarker of muscle activity in spinal muscular atrophy | 2026 |
|
Dr Krutik Patel
Professor Volker Straub
| Phenotypic characterization of dominantly inherited distal nebulin myopathy | 2026 |
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Dr Pietro Riguzzi
Emma Grover
Dr Marianela Schiava
Meredith James
Professor Giorgio Tasca
et al. | Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study | 2026 |
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Dr Chloe Geagan
Professor Volker Straub
| Screening for brain-related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener | 2026 |
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Professor Michela Guglieri
Professor Volker Straub
Professor Giorgio Tasca
| Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies | 2026 |
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Karen Wong
Dr Anando Sen
Jassi Michell-Sodhi
Dionne Moat
Dr Anna Mayhew
et al. | Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders | 2025 |
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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 |
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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 |
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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 |
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Professor Chiara Marini Bettolo
Professor Volker Straub
| Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe | 2025 |
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