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Browsing publications by
Dr Teresinha Evangelista.
Newcastle Authors
Title
Year
Full text
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