Dr Sabine Specht
Dr Jennifer Duff
Dr Richard Charlton
Dr Tuomo Polvikoski
Dr Rita Barresi
et al. | A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A | 2021 |
|
Dr Ana Topf
Professor Volker Straub
Professor Chiara Marini Bettolo
Dr Sabine Specht
| Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 10.1038/s41431-021-00901-1) | 2021 |
|
Dr Sabine Specht
Professor Volker Straub
| Intellectual disability in paediatric patients with genetic muscle diseases | 2021 |
|
Professor Jordi Diaz Manera
Professor Volker Straub
Dr Andres Nascimento Osorio
Dr Sabine Specht
| Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial | 2021 |
|
Dr Ana Topf
Dr Katherine Johnson
Adam Bates
Lauren Charlotte Phillips Phillips
Dr Marta Bertoli
et al. | Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness | 2020 |
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