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 |
|
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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Professor Jordi Diaz Manera
| Corrigendum to “Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials” [Molecular Genetics and Metabolism, 143 (2024) 108608] (Molecular Genetics and Metabolism (2024) 143(4), (S109671922400492X), (10.1016/j.ymgme.2024.108608)) | 2025 |
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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 |
|
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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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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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 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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Professor Jordi Diaz Manera
Professor Giorgio Tasca
| Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network. | 2024 |
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Dr Ana Topf
Dr Karin Engelhardt
Professor Sophie Hambleton
Professor Jordi Diaz Manera
Professor Chiara Marini Bettolo
et al. | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | 2024 |
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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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Dr Ana Topf
Daniel Cox
Dr Valeria Di Leo
Professor Chiara Marini Bettolo
Professor Jordi Diaz Manera
et al. | Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy | 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 |
|
Professor Jordi Diaz Manera
| Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials | 2024 |
|
Patricia Pinol Jurado
Jose Verdú-Díaz
Esther Fernández-Simón
Dr Conor Lawless
Dr Amy Vincent
et al. | Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration | 2024 |
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