Robert Muni Lofra
Dr Anna Mayhew
Professor Chiara Marini Bettolo
| Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review | 2025 |
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Robert Muni Lofra
Dr Anna Mayhew
Professor Chiara Marini Bettolo
| Corrigendum to “Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review” [NMD, volume 49, article 105341] (Neuromuscular Disorders (2025) 49, (S0960896625000689), (10.1016/j.nmd.2025.105341)) | 2025 |
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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 |
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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 |
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Professor Michela Guglieri
Professor Volker Straub
Dr Anna Mayhew
Emerita Professor Katherine Bushby
Robert Muni Lofra
et al. | Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy | 2025 |
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Dr Mary Neal
Carla Bolaño Diaz
Mark Richardson
Jassi Michell-Sodhi
Robert Muni Lofra
et al. | Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na-MRI in Dysferlinopathy and Healthy Controls | 2025 |
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Dr Anna Mayhew
Professor Michela Guglieri
Professor Volker Straub
Robert Muni Lofra
| Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy | 2025 |
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Alba Segarra Casas
Yolande Parkhurst
Robert Muni Lofra
Professor Chiara Marini Bettolo
Professor Volker Straub
et al. | An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy | 2024 |
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Dr Doaa Salman
Carla Bolaño Diaz
Robert Muni Lofra
Karen Wong
Dr Maha Elseed
et al. | Axial involvement as a prominent feature in SMPX-related distal myopathy | 2024 |
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Dr Anna Mayhew
Robert Muni Lofra
Professor Chiara Marini Bettolo
| Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study | 2024 |
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Dr Anna Mayhew
Robert Muni Lofra
Professor Chiara Marini Bettolo
| Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3 | 2024 |
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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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Professor Chiara Marini Bettolo
Robert Muni Lofra
| 254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 2022 | 2023 |
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Dr Anna Mayhew
Robert Muni Lofra
Professor Chiara Marini Bettolo
| 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants | 2023 |
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Dr Claire Wood
Dr Kieren Hollingsworth
Edrina Bokaie
Dr Eric Hughes
Robert Muni Lofra
et al. | Is ongoing testosterone required after pubertal induction in Duchenne muscular dystrophy? | 2023 |
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