Teresinha Evangelista

J Med Genet 2019 Oct 26;56(10):693-700. Epub 2019 Jun 26.

Human Genetics, Leids Universitair Medisch Centrum, Leiden, The Netherlands.

J Neurol 2019 Oct 2;266(10):2524-2534. Epub 2019 Jul 2.

Neuropathology and Neuromuscular Diseases Laboratory, Buenos Aires, Argentina.

J Neuromuscul Dis 2017;4(4):327-335

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Muscle Nerve 2019 06 4;59(6):711-713. Epub 2019 Apr 4.

Department of Clinical and Experimental Medicine, University of Pisa, via Roma 67 56126, Pisa, Italy.

Neuromuscul Disord 2019 Jun 15;29(6):483-485. Epub 2019 Mar 15.

Institut de Myologie, CHU Pitié-Salpêtrière, Paris, France.

Ann Clin Transl Neurol 2019 Apr 3;6(4):642-654. Epub 2019 Mar 3.

Department of Neurology University of Massachusetts Medical School Worcester Massachusetts.

Neuromuscul Disord 2018 11 10;28(11):965-968. Epub 2018 Aug 10.

Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal; Institute of Physiology Unit, Instituto de Medicina Molecular, Faculty of Medicine, Universidade de Lisboa, Portugal.

Neurology 2018 08 6;91(6):e562-e570. Epub 2018 Jul 6.

From the Department of Neurology (K.M., N.C.V., B.G.M.v.E., C.G.C.H.), Radboud University Medical Center, Nijmegen; Departments of Human Genetics (R.J.L.F.L., P.J.v.d.V., M.L.v.d.B., S.M.v.d.M.), Clinical Genetics (M.K.), and Neurology (U.A.B.), Leiden University Medical Center, Leiden, the Netherlands; Department of Pediatrics (J.M.G.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Medical Genetics (A.E.L.), MassGeneral Hospital for Children, Boston, MA; Center for Genomic Medicine and Department of Neurology (H.B.), Massachusetts General Hospital, Boston; Department of Pathology (S.A.M.), University of Iowa Hospitals and Clinics, Iowa City; The John Walton Muscular Dystrophy Research Centre (K.J., T.E., A.T., V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Neuromuscular Consult Unit (S.K.G.), Bilbo-Basurtu Erakunde Sanitario Integratua, Organización Sanitaria Integrada Bilbao-Basurto, Spain; Centre de Référence des Maladies Neuromusculaires (S.S.), Nice, France; Department of Neurology (R.T.), University of Rochester Medical Center, NY; Division of Human Biology (S.J.T.), Fred Hutchinson Cancer Research Center, Seattle, WA; and National Institute of Environmental Health Sciences (N.D.S.), Research Triangle Park, NC.

Am J Med Genet A 2018 07 28;176(7):1594-1601. Epub 2018 Apr 28.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

Neurol Genet 2018 Apr 19;4(2):e226. Epub 2018 Mar 19.

MRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.

Muscle Nerve 2018 03 7;57(3):380-387. Epub 2017 Nov 7.

MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway Newcastle upon Tyne NE1 3 BZ, United Kingdom.

J Neurol 2018 Jan 30;265(1):194-203. Epub 2017 Nov 30.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

Rheumatology (Oxford) 2017 Nov;56(11):2034-2035

Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Salford.

Neuromuscul Disord 2017 Sep 4;27(9):861-872. Epub 2017 May 4.

Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4AZ, UK. Electronic address:

Orphanet J Rare Dis 2017 09 6;12(1):151. Epub 2017 Sep 6.

The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

Neuropediatrics 2017 08 15;48(4):294-308. Epub 2017 May 15.

The John Walton Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom.

Neuromuscul Disord 2017 Aug 29;27(8):777-781. Epub 2017 Mar 29.

Serviço de Neurologia, Hospital de Santa Maria (Centro Hospitalar de Lisboa Norte, EPE), Av. Professor Egas Moniz, 1649-035 Lisboa, Portugal.

Neurol Genet 2017 Jun 3;3(3):e152. Epub 2017 May 3.

Institute of Genetic Medicine (Y.A., A.T., T.E., P.J.L., A.R., H.L.), Newcastle University, UK; Division of Neurology (P.J.L.), Federal University of Parana, Brazil; Leibniz-Institut für Analytische Wissenschaften ISAS e.V. (A.R.), Germany; Department of Neurosciences and Mental Health (P.V.), University of Lisbon, Portugal; and Division of Molecular Genetics (H.I., H.K.), Fujita Health University, Japan.

J Neurol 2017 Jun 26;264(6):1271-1280. Epub 2017 May 26.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

J Neurol 2017 Mar 10;264(3):541-553. Epub 2017 Jan 10.

Worldwide Research and Development, Pfizer Inc., 610 Main St., Cambridge, MA, USA.

Eur J Med Genet 2017 Mar 10;60(3):185-189. Epub 2017 Jan 10.

John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.

Neurology 2017 Mar 1;88(13):1226-1234. Epub 2017 Mar 1.

From the MRC Centre for Neuromuscular Diseases and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., H.G., T.E., J.D., A.B., V.B., H.S., E.F., A.P., H.L., P.F.C., R.H.), and Institute of Neuroscience (R.G.W., J.M.), Newcastle University, Newcastle upon Tyne; Bristol Genetics Laboratory (T.A., M.G., N.F.), Pathology Sciences, North Bristol NHS Trust, Southmead Hospital; Medical Genetic Center (S.K.), Munich, Germany; Department of Paediatric Neurology (V.R.), Royal Victoria Infirmary, Newcastle upon Tyne Foundation Hospitals NHS Trust; Nuffield Department of Clinical Neurosciences (E.F.), University of Oxford; and Department of Clinical Neurosciences (P.F.C.), Cambridge Biomedical Campus, University of Cambridge, UK.

Brain 2016 08 3;139(Pt 8):2143-53. Epub 2016 Jun 3.

1 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK

Neuromuscul Disord 2016 08 30;26(8):535-47. Epub 2016 May 30.

John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, UK. Electronic address:

J Neurol 2016 Jul 9;263(7):1401-8. Epub 2016 May 9.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

Neurology 2016 Jul 11;87(3):295-8. Epub 2016 May 11.

From Newborn Screening and Metabolic Diagnostics (Z.L., P.N.C.), University Medical Center Hamburg-Eppendorf, Hamburg; Friedrich-Baur Institute, Department of Neurology (S.W., B.S.-W., M.C.W., P.R., T.K., B.S.), and Department of Neuropediatrics, Dr. Von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilian University of Munich, Germany; The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.A.W.), Oswestry; Institute of Genetic Medicine (T.E., M.G., V.S.), Newcastle University; Salford Royal NHS Foundation Trust (M.R.), Salford; UCL Institute of Neurology and National Hospital (R.Q.), Queen Square, London; Department of Neurology (D.H.-J.), Oxford University Hospital, UK; and Department of Neurology (S.Z., M.D.), Halle University, Germany.

Orphanet J Rare Dis 2016 Feb 24;11:17. Epub 2016 Feb 24.

John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.

J Neuromuscul Dis 2015 Jul;2(Suppl 2):S21-S29

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.

Neuromuscul Disord 2015 Jun 18;25(6):516-21. Epub 2015 Mar 18.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

J Neurol Neurosurg Psychiatry 2014 Dec 2;85(12):1359-65. Epub 2014 Apr 2.

Institute of Genetic Medicine, MRC Centre for Neuromuscular Disease, Newcastle University, Newcastle upon Tyne, UK.

Brain 2014 Sep 20;137(Pt 9):2429-43. Epub 2014 Jun 20.

5 Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, NE1 3BZ, Newcastle upon Tyne, UK

J Hum Genet 2014 Aug 10;59(8):454-64. Epub 2014 Jul 10.

1] Departamento de Ciências Biológicas, Laboratório de Bioquímica, Faculdade de Farmácia, Universidade do Porto, Porto, Portugal [2] Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal.

Neuromuscul Disord 2014 Jun 15;24(6):537-45. Epub 2014 Mar 15.

Institute of Genetic Medicine, Newcastle University, UK.

Neuromuscul Disord 2014 May 25;24(5):419-24. Epub 2014 Jan 25.

Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Av. Professor Egas Moniz, 1649-028 Lisboa, Portugal; Laboratório de Neuropatologia, Serviço de Neurologia, Hospital de Santa Maria, CHLN, Av. Professor Egas Moniz, 1649-035 Lisboa, Portugal.

Blood Transfus 2014 Apr;12 Suppl 3:s621-5

Directorate of Public Health and Risk Assessment, European Commission, Luxembourg, Luxembourg.

J Neuromuscul Dis 2014;1(1):75-90

Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.

J Clin Neuromuscul Dis 2013 Dec;15(2):69-72

*Neurology Department, CHLN-Hospital Santa Maria, Lisbon, portugal; †National Institute of Health Dr Ricardo Jorge, INSA Newborn Screening, Metabolism & Genetics Unit, Oporto, portugal; ‡Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, Muscle Unit, United Kingdom.

J Clin Neuromuscul Dis 2013 Jun;14(4):204-8

Department of Neurology, Hospital de Faro, Faro, Portugal, UK.

PLoS One 2012 16;7(2):e31738. Epub 2012 Feb 16.

Departamento de Gastrenterologia, Unidade de Nutrição e Metabolismo, Hospital Santa Maria, Faculdade de Medicina de Lisboa, IMM, Lisbon, Portugal.

Acta Reumatol Port 2011 Jan-Mar;36(1):75-6

Rheumatology Research Unit, Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Portugal.

Neuromuscul Disord 2011 Jul 7;21(7):483-8. Epub 2011 May 7.

Centro de Genética Médica Jacinto de Magalhães, Instituto Nacional Saúde Ricardo Jorge, Porto, Portugal.

Muscle Nerve 2011 Jul;44(1):102-8

Neuropaediatrics Department, Hospital de D. Estefânia, Centro Hospitalar de Lisboa Central, E.P.E., Rua Jacinta Marto, 1169-045 Lisboa, Portugal.

Rev Port Pneumol 2010 Jul-Aug;16(4):671-7

Serviço de Pneumologia I, Hospital de Santa Maria, CHLN, Lisboa, Portugal.

Muscle Nerve 2010 Nov;42(5):836-9

Department of Neurosciences, Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, Lisbon, Portugal.

Amyotroph Lateral Scler 2010 Oct;11(5):456-60

Neuroscience Department, Hospital de Santa Maria-Centro Hospitalar Lisboa Norte, Lisbon, Portugal.

J Hum Genet 2010 Aug 10;55(8):546-9. Epub 2010 Jun 10.

Unidade de Genética Molecular, Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Ricardo Jorge, Porto, Portugal.

Neuromuscul Disord 2009 Jan 11;19(1):66-8. Epub 2008 Dec 11.

Department of Neurology, Hospital de Santa Maria, Lisbon, Portugal.

J Neurol 2008 Apr 19;255(4):545-50. Epub 2008 Feb 19.

Serviço de Neurologia (Piso 7), Hospital de Santa Maria, Av. Prof. Egas Moniz, 1649-035 Lisboa.

Mitochondrion 2007 Dec 19;7(6):396-8. Epub 2007 Aug 19.

Instituto de Genética Médica, Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.

Amyotroph Lateral Scler 2007 Apr;8(2):101-5

Laboratory of Clinical Neurophysiology, British Hospital--Lisbon XXI, Lisbon. Portugal.

Amyotroph Lateral Scler 2006 Mar;7(1):57-60

Department of Neurology, Neuromuscular Unit, Hospital de Santa Maria, Lisbon, Portugal.

Clin Neurophysiol 2005 Dec 25;116(12):2847-52. Epub 2005 Oct 25.

Department of Neurology, Santa Maria Hospital. Institute of Molecular Medicine-Faculty of Medicine. Lisbon. Portugal.

Amyotroph Lateral Scler Other Motor Neuron Disord 2005 Jun;6(2):104-10

Laboratory of Glycobiology, Instituto de Tecnologia Química e Biológica, Oeiras, Portugal.

Clin Neurophysiol 2004 Dec;115(12):2776-82

Department of Neurology, Hospital de Santa Maria, Av. Prof. Egas Moniz, 1649 Lisbon, Portugal.

Amyloid 2004 Sep;11(3):200-7

Department of Neurology, Hospital de Santa Maria, Lisbon, Portugal.

Amyotroph Lateral Scler Other Motor Neuron Disord 2004 Mar;5(1):61-2

Department of Neurology, Hospital de Santa Maria, Av. Prof. Egas Moniz, 1600 Lisbon, Portugal.

Muscle Nerve 2003 Dec;28(6):715-21

Department of Neurology, Hospital de Santa Maria, Centro de Estudos Egas Moniz, Faculty of Medicine, Institute for Molecular Medicine, Av. Prof. Egas Moniz, 1649-028 Lisbon, Portugal.

Amyotroph Lateral Scler Other Motor Neuron Disord 2003 Apr;4(1):31-5

Department of Physical Medicine and Rehabilitation, Hospital de Santa Maria, Lisbon, Portugal.

Amyotroph Lateral Scler Other Motor Neuron Disord 2002 Mar;3(1):39-42

Department of Neurology, Hospital de Santa Maria and EMG laboratory of Centro de Estudos Egas Moniz, Faculty of Medicine, Lisbon, Portugal.