Publications by Dr Teresinha Evangelista - ePrints

Browsing publications by Dr Teresinha Evangelista.

Newcastle Authors	Title	Year
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 dystrophy	2018
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 patients	2018
Sarah Moore Dr Katherine Johnson Dr Teresinha Evangelista Professor Volker Straub	FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation	2018
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 syndrome	2018
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 domains	2017
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 Dystrophy	2017
Dr Boglárka Bánsági Dr Helen Griffin Professor Roger Whittaker Dr Teresinha Evangelista Dr James Miller et al.	Genetic heterogeneity of motor neuropathies	2017
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 syndromes	2017
Dr Ana Topf Professor Jordi Diaz Manera Dr Nuria Muelas Gomez Dr Teresinha Evangelista Dr Yoshiteru Azuma et al.	Molecular characterization of congenital myasthenic syndromes in Spain	2017
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 progression	2017
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 dystrophy	2017
Dr Grace McMacken Dr Teresinha Evangelista Dr Sally Spendiff Professor Hanns Lochmuller	The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes	2017
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 inhibitors	2016
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 syndrome	2016
Dr Teresinha Evangelista Dr Ana Topf Professor Hanns Lochmuller	Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations	2016
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 UK	2016
Dr Michela Guglieri Dr Teresinha Evangelista Professor Volker Straub	Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness	2016
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 Networks	2016
Dr Teresinha Evangelista Professor Hanns Lochmuller	FSHD 1 and 2 testing - a clinical diagnostic service perspective	2015
Dr Teresinha Evangelista Libby Wood Dr Fiona Norwood Professor Hanns Lochmuller	Pain and quality of life in the UK FSHD patient registry	2015
Dr Teresinha Evangelista Dr Boglarka Bansagi Dr Angela Pyle Dr Helen Griffin Dr Konstantinos Douroudis et al.	Phenotypic variability of TRPV4 related neuropathies	2015
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 atrophy	2014
Dr Ana Topf Dr Teresinha Evangelista Professor Hanns Lochmuller	Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect	2014
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 Transmission	2014
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 profiles	2014
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 Britain	2014
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 diagnosis	2013