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Browsing publications by Dr Teresinha Evangelista.

Newcastle AuthorsTitleYearFull text
Dr German Moris
Libby Wood
Roberto Fernandez-Torron
Dr Adela Cora
Dr Fiona Norwood
et al.
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy2018
Dr Grace McMacken
Professor Roger Whittaker
Dr Teresinha Evangelista
Professor Hanns Lochmuller
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients2018
Sarah Moore
Dr Katherine Johnson
Dr Teresinha Evangelista
Professor Volker Straub
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation2018
Dr Hadil Alrohaif
Dr Ana Topf
Dr Teresinha Evangelista
Professor Hanns Lochmuller
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome2018
Dr Lizzie Harris
Dr Umar Burki
Dr Chiara Marini Bettolo
Dr Marta Bertoli
Dr Teresinha Evangelista
et al.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Dr Debbie Hicks
Dr Anna Porter
et al.
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy2017
Dr Boglárka Bánsági
Dr Helen Griffin
Professor Roger Whittaker
Dr Teresinha Evangelista
Dr James Miller
et al.
Genetic heterogeneity of motor neuropathies2017
Dr Yoshiteru Azuma
Dr Ana Topf
Dr Teresinha Evangelista
Dr Paulo Lorenzoni
Dr Andreas Roos
et al.
Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes2017
Dr Ana Topf
Dr Nuria Muelas Gomez
Dr Teresinha Evangelista
Dr Yoshiteru Azuma
Dr Grace McMacken
et al.
Molecular characterization of congenital myasthenic syndromes in Spain2017
Dr Oksana Pogoryelova
Dr Michela Guglieri
Dr Chiara Marini Bettolo
Professor Volker Straub
Dr Teresinha Evangelista
et al.
Reduced serum myostatin concentrations associated with genetic muscle disease progression2017
Libby Wood
Dr Chiara Marini Bettolo
Dr Michela Guglieri
Dr Grace McMacken
Dr Anna Mayhew
et al.
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy2017
Dr Grace McMacken
Dr Teresinha Evangelista
Dr Sally Spendiff
Professor Hanns Lochmuller
The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes2017
Dr Juliane Mueller
Dr Teresinha Evangelista
Dr Ana Topf
Professor Hanns Lochmuller
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors2016
Emily O'Connor
Dr Ana Topf
Dr Juliane Mueller
Daniel Cox
Dr Teresinha Evangelista
et al.
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome2016
Dr Teresinha Evangelista
Dr Ana Topf
Professor Hanns Lochmuller
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations2016
Sebastian Figueroa Bonaparte
Dr Rita Barresi
Dr Tuomo Polvikoski
Dr Timothy Williams
Dr Ana Topf
et al.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK2016
Dr Michela Guglieri
Dr Teresinha Evangelista
Professor Volker Straub
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness2016
Dr Teresinha Evangelista
Victoria Hedley
Dr Jose Atalaia
Dr Stephen Lynn
Emerita Professor Katherine Bushby
et al.
The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks2016
Dr Teresinha Evangelista
Professor Hanns Lochmuller
FSHD 1 and 2 testing - a clinical diagnostic service perspective2015
Dr Teresinha Evangelista
Libby Wood
Dr Fiona Norwood
Professor Hanns Lochmuller
Pain and quality of life in the UK FSHD patient registry2015
Dr Teresinha Evangelista
Dr Boglarka Bansagi
Dr Angela Pyle
Dr Helen Griffin
Dr Konstantinos Douroudis
et al.
Phenotypic variability of TRPV4 related neuropathies2015
Dr Amina Chaouch
Yasmin Issop
Daniel Cox
Dr Juliane Mueller
Dr Teresinha Evangelista
et al.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy2014
Dr Ana Topf
Dr Teresinha Evangelista
Professor Hanns Lochmuller
Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect2014
Dr Amina Chaouch
Daniel Cox
Dr Steven Laval
Dr Helen Griffin
Dr Teresinha Evangelista
et al.
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission2014
Dr Rita Barresi
Dr Anna Sarkozy
Dr Gerald Pfeffer
Dr Teresinha Evangelista
Professor Patrick Chinnery
et al.
Proteomic analysis in 72 myofibrillar myopathy (MFM) patients identifies new disease-relevant proteins accumulating in aggregates and reveals subtype-specific proteomic profiles2014
Dr Amina Chaouch
Dr Fiona Norwood
Professor Rita Horvath
Professor Patrick Chinnery
Dr Tuomo Polvikoski
et al.
Two recurrent mutations are associated with GNE myopathy in the North of Britain2014
Dr Anna Sarkozy
Dr Rita Barresi
Dr Teresinha Evangelista
Emerita Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Desminopathy or myotilinopathy? An integrated proteomics approach for diagnosis2013