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Browsing publications by Dr Teresinha Evangelista

Newcastle AuthorsTitleYearFull text
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 Boglarka Bansagi
Dr Helen Griffin
Dr 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 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
Dr Michela Guglieri
Dr Teresinha Evangelista
Professor Volker Straub
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness2016
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