Publications by Dr Sabine Specht - ePrints

Newcastle Authors	Title	Year
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