Dr Andreas Roos Dr Hadil Alrohaif Dr Rita Barresi Dr Ana Topf Dr Teresinha Evangelista et al. | Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects | 2023 |
|
Dr Ana Topf Dr Teresinha Evangelista Professor Volker Straub Professor John-Paul Taylor
| Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy | 2022 |
|
Phillip Cammish Dr Teresinha Evangelista Professor Volker Straub Professor Chiara Marini Bettolo
| Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms | 2020 |
|
Dr Teresinha Evangelista Professor Hanns Lochmuller
| Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation | 2019 |
|
Giulia Ricci Phillip Cammish Professor Hanns Lochmuller Dr Teresinha Evangelista
| Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy | 2019 |
|
Dr Katherine Johnson Dr Ana Topf Professor Volker Straub Dr Teresinha Evangelista
| SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain | 2019 |
|
Dr David Owen Dr Ana Topf Daniel Cox Dr Teresinha Evangelista John Dawson et al. | Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness | 2018 |
|