Teresinha Evangelista

Teresinha Evangelista

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Teresinha Evangelista

Publications by authors named "Teresinha Evangelista"

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59Publications

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Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis.

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

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

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http://dx.doi.org/10.3233/JND-170234DOI Listing
July 2019

Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy.

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.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.26474
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http://dx.doi.org/10.1002/mus.26474DOI Listing
June 2019

Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy.

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.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183020
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http://dx.doi.org/10.1016/j.nmd.2018.08.002DOI Listing
November 2018

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

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.

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http://dx.doi.org/10.1212/WNL.0000000000005958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105048PMC
August 2018

Whole-exome sequencing identifies mutations in in a mild form of Carey-Fineman-Ziter syndrome.

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.

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http://dx.doi.org/10.1212/NXG.0000000000000226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858950PMC
April 2018

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.

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.

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http://dx.doi.org/10.1007/s00415-017-8689-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760613PMC
January 2018

Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy.

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

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

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http://dx.doi.org/10.1093/rheumatology/kex252DOI Listing
November 2017

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

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:

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http://dx.doi.org/10.1016/j.nmd.2017.05.002DOI Listing
September 2017

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.

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.

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http://dx.doi.org/10.1055/s-0037-1602832DOI Listing
August 2017

Screening for Pompe disease in a Portuguese high risk population.

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.

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http://dx.doi.org/10.1016/j.nmd.2017.03.010DOI Listing
August 2017

Intragenic deletion detected by whole-genome sequencing in congenital myasthenic syndromes.

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.

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http://dx.doi.org/10.1212/NXG.0000000000000152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415388PMC
June 2017

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy.

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.

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http://dx.doi.org/10.1007/s00415-017-8525-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486574PMC
June 2017

How the EUCERD Joint Action supported initiatives on Rare Diseases.

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.

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http://dx.doi.org/10.1016/j.ejmg.2017.01.002DOI Listing
March 2017

Genetic heterogeneity of motor neuropathies.

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.

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http://dx.doi.org/10.1212/WNL.0000000000003772DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373778PMC
March 2017

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

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

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http://dx.doi.org/10.1093/brain/aww130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958899PMC
August 2016

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

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:

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http://dx.doi.org/10.1016/j.nmd.2016.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5967615PMC
August 2016

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

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.

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http://dx.doi.org/10.1007/s00415-016-8132-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929161PMC
July 2016

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

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.

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http://dx.doi.org/10.1212/WNL.0000000000002758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955273PMC
July 2016

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks.

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.

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http://dx.doi.org/10.1186/s13023-016-0398-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765230PMC
February 2016

Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.

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.

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http://dx.doi.org/10.3233/JND-150098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746746PMC
July 2015

Phenotypic variability of TRPV4 related neuropathies.

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:

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http://dx.doi.org/10.1016/j.nmd.2015.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454778PMC
June 2015

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.

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.

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http://dx.doi.org/10.1038/jhg.2014.54DOI Listing
August 2014

200th ENMC International Workshop "European reference networks: recommendations and criteria in the neuromuscular field", 18-20 October 2013, Naarden, The Netherlands.

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

Institute of Genetic Medicine, Newcastle University, UK.

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http://dx.doi.org/10.1016/j.nmd.2014.03.005DOI Listing
June 2014

Atypical phenotype in two patients with LAMA2 mutations.

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.

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http://dx.doi.org/10.1016/j.nmd.2014.01.004DOI Listing
May 2014

Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.

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.

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http://dx.doi.org/10.1097/CND.0000000000000012DOI Listing
December 2013

A family with 2 different hereditary diseases leading to early cardiac involvement.

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

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

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http://dx.doi.org/10.1097/CND.0b013e31829082c3DOI Listing
June 2013

Liver and muscle in morbid obesity: the interplay of fatty liver and insulin resistance.

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.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0031738PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3281005PMC
August 2012

Macrophagic myofasciitis: a case report of autoimmune/inflammatory syndrome induced by adjuvants (ASIA).

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.

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August 2011

Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.

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.

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http://dx.doi.org/10.1016/j.nmd.2011.03.011DOI Listing
July 2011

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

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.

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http://dx.doi.org/10.1002/mus.22009DOI Listing
July 2011

[Pulmonary disease in polymyositis].

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

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

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http://dx.doi.org/10.1016/s0873-2159(15)30061-1DOI Listing
January 2011

Acquired amyloid neuropathy in a Portuguese patient after domino liver transplantation.

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

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

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http://dx.doi.org/10.1002/mus.21806DOI Listing
November 2010

A randomized, placebo-controlled trial of memantine for functional disability in amyotrophic lateral sclerosis.

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

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

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http://www.tandfonline.com/doi/full/10.3109/17482968.2010.49
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http://dx.doi.org/10.3109/17482968.2010.498521DOI Listing
October 2010

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.

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.

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http://www.nature.com/articles/jhg201060
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http://dx.doi.org/10.1038/jhg.2010.60DOI Listing
August 2010

A case of asymptomatic cytoplasmic body myopathy revealed by sinvastatin.

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

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

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http://linkinghub.elsevier.com/retrieve/pii/S096089660800670
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http://dx.doi.org/10.1016/j.nmd.2008.10.008DOI Listing
January 2009

Botulinum toxin type-B improves sialorrhea and quality of life in bulbaronset amyotrophic lateral sclerosis.

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.

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http://dx.doi.org/10.1007/s00415-008-0738-5DOI Listing
April 2008

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.

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.

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http://dx.doi.org/10.1016/j.mito.2007.08.002DOI Listing
December 2007

Sleep characteristics of amyotrophic lateral sclerosis in patients with preserved diaphragmatic function.

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

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

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http://dx.doi.org/10.1080/17482960601029883DOI Listing
April 2007

Evidence for central abnormality in respiratory control in primary lateral sclerosis.

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

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

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http://dx.doi.org/10.1080/14660820510012031DOI Listing
March 2006

Pain and calf hypertrophy associated with spontaneous repetitive discharges treated with botulinum toxin.

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.

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http://dx.doi.org/10.1016/j.clinph.2005.07.016DOI Listing
December 2005

Biochemical characterization of plasma in amyotrophic lateral sclerosis: amino acid and protein composition.

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

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

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http://dx.doi.org/10.1080/14660820410021320DOI Listing
June 2005

Repetitive nerve stimulation in myasthenia gravis--relative sensitivity of different muscles.

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

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

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http://dx.doi.org/10.1016/j.clinph.2004.05.024DOI Listing
December 2004

Abrupt onset of progressive muscular atrophy.

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.

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http://dx.doi.org/10.1080/14660820310016796DOI Listing
March 2004

Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies.

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.

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http://dx.doi.org/10.1002/mus.10474DOI Listing
December 2003

Nocturnal pulse oximetry: a new approach to establish the appropriate time for non-invasive ventilation in ALS patients.

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.

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http://dx.doi.org/10.1080/14660820310006706DOI Listing
April 2003

The corticomotor threshold is not dependent on disease duration in amyotrophic lateral sclerosis (ALS).

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.

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http://www.tandfonline.com/doi/full/10.1080/1466082023175765
Publisher Site
http://dx.doi.org/10.1080/146608202317576525DOI Listing
March 2002