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 |
|
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 |
|
Dr Ana Topf Dr Jennifer Duff Dr Lizzie Harris Professor Chiara Marini Bettolo Professor Volker Straub et al. | Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement | 2024 |
|
Dr Ana Topf Dr Jennifer Duff Dr Richard Charlton Professor Volker Straub
| Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure | 2023 |
|