Publications by Dr Teresinha Evangelista - ePrints

Newcastle Authors	Title	Year
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 Dr 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