Staff Profile
Dr Teresinha Evangelista
Clinical Research Associate
- Email: teresinha.evangelista@ncl.ac.uk
- Telephone: +44 (0)191 241 8617
- Address: Institute of Genetic Medicine
Newcastle University
International Centre for Life
Central Parkway
Newcastle upon Tyne
NE1 3BZ
Publications
- Morís G, Wood L, Fernández-Torrón R, Coraspe JAG, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T. Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy. Muscle and Nerve 2018, 57(3), 380-387.
- McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmuller H. Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. Journal of Neurology 2018, 265(1), 194-203.
- Alrohaif H, Topf A, Evangelista T, Lek M, McArthur D, Lochmuller H. Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. Neurology Genetics 2018, 4(2), e226.
- Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Topf A, Bushby K, McArthur D, Lochmuller H, Ferlini A, Straub V, Barresi R. Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. Neuromuscular Disorders 2017, 27(9), 861-872.
- Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnusson O, Lek M, MacArthur D, Bushby K, Lochmuller H, Straub V. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. Orphanet Journal of Rare Diseases 2017, 12(151), -.
- Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmuller H, Chinnery PF, Horvath R. Genetic heterogeneity of motor neuropathies. Neurology 2017, 88(13), 1226-1234.
- Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H. Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes. Neurology: Genetics 2017, 3(3), e152.
- Natera-de Benito D, Topf A, Vilchez JJ, Gonzalez-Quereda L, Dominguez-Carral J, Diaz-Manera J, Ortez C, Bestue M, Gallano P, Dusl M, Abicht A, Muller JS, Senderek J, Garcia-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodriguez Cruz PM, Camacho A, Jimenez E, Miranda-Herrero MC, Santana-Artiles A, Garcia-Campos O, Dominguez-Rubio R, Olive M, Colomer J, Beeson D, Lochmuller H, Nascimento A. Molecular characterization of congenital myasthenic syndromes in Spain. Neuromuscular Disorders 2017, 27(12), 1087-1098.
- Burch PM, Pogoryelova O, Palandra J, Goldstein R, Bennett D, Fitz L, Guglieri M, Bettolo CM, Straub V, Evangelista T, Neubert H, Lochmuller H, Morris C. Reduced serum myostatin concentrations associated with genetic muscle disease progression. Journal of Neurology 2017, 264(3), 541-553.
- Moreira S, Wood L, Smith D, Marini-Bettolo C, Guglieri M, McMacken G, Bailey G, Mayhew A, Muni-Lofra R, Eglon G, Williams M, Straub V, Lochmuller H, Evangelista T. Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy. Journal of Neurology 2017, 264(6), 1271-1280.
- McMacken G, Abicht A, Evangelista T, Spendiff S, Lochmüller H. The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes. Neuropediatrics 2017, 48(4), 294-308.
- Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Muller JS, Evangelista T, Topf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmuller H. KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. Journal of Neurology 2016, 263(3), 517-523.
- O'Connor E, Topf A, Muller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmuller H. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain 2016, 139(8), 2143-2153.
- Natera-de Benito D, Bestue M, Vilchez JJ, Evangelista T, Topf A, Garcia-Ribes A, Trujillo-Tiebas MJ, Garcia-Hoyos M, Ortez C, Camacho A, Jimenez E, Dusl M, Abicht A, Lochmuller H, Colomer J, Nascimento A. Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. Neuromuscular Disorders 2016, 26(2), 153-159.
- Lukacs Z, Cobos PN, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Muller-Felber W, Schoser B. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 2016, 87(3), 295-298.
- Evangelista T, Hedley V, Atalaia A, Johnson M, Lynn S, Le Cam Y, Bushby K. The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks. Orphanet Journal of Rare Diseases 2016, 11, 17.
- Smith D, Whittington R, Lunt P, Evangelista T, Williams M, Lochmuller H. FSHD 1 and 2 testing - a clinical diagnostic service perspective. In: 20th International Congress of the The World Muscle Society. 2015, Brighton, UK: Elsevier.
- Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. Journal of Neurology, Neurosurgery and Psychiatry 2016, 87(6), 680-681.
- Evangelista T, Wood L, Pohlschmidt M, Longman C, Roberts M, Hilton-Jones D, Lunt P, Wills T, Orrell R, Norwood F, Williams M, Smith D, Hudson J, Lochmuller H. Pain and quality of life in the UK FSHD patient registry. In: 20th International Congress of the The World Muscle Society. 2015, Brighton, UK: Elsevier.
- Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmuller H, Horvath R. Phenotypic variability of TRPV4 related neuropathies. Neuromuscular Disorders 2015, 25(6), 516-521.
- Nicole S, Chaouch A, Torbergsen T, Bauche S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Loseth S, Issop Y, Cox D, Muller JS, Evangelista T, Stalberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantai D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmuller H. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Brain 2014, 137(9), 2429-2443.
- Oncel I, Topf A, Evangelista T, Konuskan B, Talim B, Abicht A, Lochmuller H, Topaloglu H. Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect. In: 19th International Congress of The World Muscle Society. 2014, Berlin, Germany: Elsevier.
- Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, DeGrassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Muller JS, Evangelista T, Topf A, Abicht A, Huebner A, vonderHagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmuller H. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. Journal of Neuromuscular Diseases 2014, 1(1), 75-90.
- Maerkens A, Olive M, Tasca G, Claeys K, Barresi R, Sarkozy A, Pfeffer G, Evangelista T, Feldkirchner S, Reimann J, Hanisch F, Stenzel W, Schessl J, Schoser B, Goldfarb L, Udd B, Chinnery P, Lochmuller H, Schroder R, Marcus K, Vorgerd M, Kley RA. Proteomic analysis in 72 myofibrillar myopathy (MFM) patients identifies new disease-relevant proteins accumulating in aggregates and reveals subtype-specific proteomic profiles. In: 19th International Congress of the World Muscle Society. 2014, Berlin, Germany: Elsevier.
- Chaouch A, Brennan KM, Hudson J, Longman C, McConville J, Morrison PJ, Farrugia ME, Petty R, Stewart W, Norwood F, Horvath R, Chinnery PF, Costigan D, Winer J, Polvikoski T, Healy E, Sarkozy A, Evangelista T, Pogoryelova O, Eagle M, Bushby K, Straub V, Lochmuller H. Two recurrent mutations are associated with GNE myopathy in the North of Britain. Journal of Neurology, Neurosurgery & Psychiatry 2014, 85(12), 1359-1365.
- Maerkens A, Sarkozy A, Barresi R, Evangelista T, Bushby K, Marcus K, Vorgerd M, Lochmuller H, Kley RA. Desminopathy or myotilinopathy? An integrated proteomics approach for diagnosis. In: 18th International Congress of the World Muscle Society. 2013, California, USA: Elsevier.