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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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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Robert Muni Lofra
| Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities | 2023 |
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Dr Anna Mayhew
Dionne Moat
Robert Muni Lofra
Jassi Sodhi
| Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) - Therapy Guidelines | 2022 |
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Meredith James
Dr Michelle Eagle
Robert Muni Lofra
Dr ursula Moore
Professor Michela Guglieri
et al. | Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale | 2022 |
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Dr Anna Mayhew
Meredith James
Dr ursula Moore
Helen Sutherland
Robert Muni Lofra
et al. | Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach | 2022 |
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Dr Anna Mayhew
Dionne Moat
Dr Michelle Eagle
Meredith James
Robert Muni Lofra
et al. | Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy | 2022 |
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Robert Muni Lofra
Dr Lindsay Murphy
Professor Chiara Marini Bettolo
Dr Anna Mayhew
| Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK | 2022 |
|
Meredith James
Robert Muni Lofra
Dionne Moat
Mark Richardson
Dr Michelle Eagle
et al. | Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies | 2022 |
|
Ben Porter
Robert Muni Lofra
Professor Chiara Marini Bettolo
| Characterising FSHD and supporting national and international research projects: eight years of the UK FSHD Patient Registry | 2021 |
|
Robert Muni Lofra
Ruth Wake
Dr Anna Mayhew
Professor Chiara Marini Bettolo
| Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation | 2021 |
|
Mark Richardson
Dr Anna Mayhew
Robert Muni Lofra
Dr Lindsay Murphy
Professor Volker Straub
et al. | Prevalence of pain within limb girdle muscular dystrophy r9 and implications for other degenerative diseases | 2021 |
|
Dr Claire Wood
Dr Kieren Hollingsworth
Dr Eric Hughes
Dr Sadha Punniyakodi
Robert Muni Lofra
et al. | Pubertal induction in adolescents with DMD is associated with high satisfaction, gonadotropin release and increased muscle contractile surface area | 2021 |
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Ben Porter
Robert Muni Lofra
Professor Chiara Marini Bettolo
| The UK FSHD Patient Registry: Linking Patients to National and Internationals Research Projects | 2021 |
|
Dr Anna Mayhew
Robert Muni Lofra
Professor Chiara Marini Bettolo
| Clinical Variability in Spinal Muscular Atrophy Type III | 2020 |
|
Robert Muni Lofra
Dr Andres Nascimento Osorio
| Gain and loss of abilities in type II SMA: A 12-month natural history study | 2020 |
|
Dr Anna Mayhew
Robert Muni Lofra
Professor Volker Straub
| Revised upper limb module for spinal muscular atrophy: 12 month changes | 2019 |
|
Dr Anna Mayhew
Robert Muni Lofra
| Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function | 2018 |
|
Robert Muni Lofra
Nicole O'Connor
| The Guide to the 2017 International Standards of Care for SMA | 2018 |
|
Libby Wood
Professor Chiara Marini Bettolo
Professor Michela Guglieri
Dr Grace McMacken
Dr Anna Mayhew
et al. | Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy | 2017 |
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