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 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 |
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Dr Marianela Schiava
Professor Jordi Diaz Manera
| Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry | 2024 |
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Catherine Turner
Dr John Bourke
Meredith James
Jassi Sodhi
Dr Marianela Schiava
et al. | Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice | 2024 |
|
Dr Marianela Schiava
Robert Muni Lofra
Dr John Bourke
Meredith James
Professor Jordi Diaz Manera
et al. | Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy | 2024 |
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Dr Marianela Schiava
| Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1 | 2024 |
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Dr Marianela Schiava
Dr Anna Mayhew
Professor Michela Guglieri
| Factors Associated With Early Motor Function Trajectories in DMD After Glucocorticoid Initiation: Post Hoc Analysis of the FOR-DMD Trial | 2024 |
|
Dr Marianela Schiava
Dr John Bourke
Meredith James
Dr Maha Elseed
Dr Monika Malinova
et al. | Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids | 2024 |
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Professor Michela Guglieri
Laura Behar
Dr Marianela Schiava
Meredith James
| Reductions in functional muscle mass and ability to ambulate in Duchenne muscular dystrophy from ages 4 to 24 years | 2024 |
|
Dr Marianela Schiava
Dr Anna Mayhew
Professor Michela Guglieri
| Reference curves of motor function outcomes in young steroid-naïve males with Duchenne muscular dystrophy | 2024 |
|
Esther Fernández-Simón
Rasya Gokul Nath
Adrienne Unsworth
Dr Marianela Schiava
Professor Giorgio Tasca
et al. | Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy | 2024 |
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Dr Marianela Schiava
Jose Verdú-Díaz
Professor Giorgio Tasca
Professor Volker Straub
Professor Chiara Marini Bettolo
et al. | Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis | 2023 |
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Esther Fernández-Simón
Patricia Pinol Jurado
Dr Elisa Villalobos Villegas
Dr Alexandra Monceau
Dr Marianela Schiava
et al. | Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations | 2023 |
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Dr Ursula Moore
Esther Fernández-Simón
Dr Marianela Schiava
Daniel Cox
Meredith James
et al. | Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy | 2023 |
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Dr John Bourke
Catherine Turner
Dr Marianela Schiava
Professor Michela Guglieri
| Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations | 2022 |
|
Dr Marianela Schiava
Dr Henriette van Ruiten
Dr Anna Mayhew
Emerita Professor Elaine McColl
Dr Tracey Willis
et al. | Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy. | 2022 |
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