Publications by authors named "Teresa Coelho"

91Publications

Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis.

Amyloid 2021 Jan 18:1-7. Epub 2021 Jan 18.

UnIGENe, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

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January 2021

A Narrative Review of the Role of Transthyretin in Health and Disease.

Neurol Ther 2020 Dec 1;9(2):395-402. Epub 2020 Oct 1.

Amyloidosis Research and Treatment Centre, IRCCS Fondazione Policlinico San Matteo, Pavia, Italy.

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December 2020

Clinicopathological correlations of sural nerve biopsies in Val30Met familial amyloid polyneuropathy.

Brain Commun 2019 4;1(1):fcz032. Epub 2019 Nov 4.

Institute of Biomedical Sciences Abel Salazar, Universidade do Porto, 4050-313 Porto, Portugal.

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November 2019

Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study.

Orphanet J Rare Dis 2020 03 6;15(1):67. Epub 2020 Mar 6.

Instituto de Medicina Molecular, Av. Prof. Egas Moniz, 1649-028, Lisbon, Portugal.

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March 2020

Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.

Amyloid 2020 Sep 4;27(3):153-162. Epub 2020 Mar 4.

Assistance Publique-Hôpitaux de Paris (APHP), French National Reference Center for Familial Amyloidotic Polyneuropathy, Centre Hospitalier Universitaire Bicêtre, Universite Paris-Sud, INSERM Unite, Paris, France.

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September 2020

Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy.

Amyloid 2020 Jun 19;27(2):89-96. Epub 2019 Dec 19.

Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

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June 2020

Validation of a Single RGB-D Camera for Gait Assessment of Polyneuropathy Patients.

Sensors (Basel) 2019 Nov 12;19(22). Epub 2019 Nov 12.

Institute for Systems Engineering and Computers - Technology and Science (INESC TEC), and Faculty of Engineering (FEUP), University of Porto, 4200-391 Porto, Portugal.

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November 2019

Advances in the treatment of hereditary transthyretin amyloidosis: A review.

Brain Behav 2019 09 1;9(9):e01371. Epub 2019 Aug 1.

Centro Hospitalar do Porto, Hospital de Santo António, Porto, Portugal.

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September 2019

Assessment of patients with hereditary transthyretin amyloidosis - understanding the impact of management and disease progression.

Amyloid 2019 Sep 24;26(3):103-111. Epub 2019 Jul 24.

g Department of Ophthalmology, Bicêtre Hospital Université Paris-Sud, Le Kremlin-Bicêtre, France APHP, DHU Sight Restore, French Reference centre for H-ATTR (NNERF), French Reference Network for Rare Ophthalmic Diseases (OPHTARA) , Le Kremlin-Bicêtre , France.

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September 2019

Predictive model of response to tafamidis in hereditary ATTR polyneuropathy.

JCI Insight 2019 06 20;4(12). Epub 2019 Jun 20.

Departments of Chemistry and Molecular Medicine, The Scripps Research Institute, La Jolla, California, USA.

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June 2019

Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.

Nat Rev Neurol 2019 07 17;15(7):387-404. Epub 2019 Jun 17.

Andrade's Center and Neurophysiology Department, Centro Hospitalar do Porto, Porto, Portugal.

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July 2019

and modify age-at-onset in familial amyloid polyneuropathy patients.

Ann Clin Transl Neurol 2019 Apr 7;6(4):748-754. Epub 2019 Mar 7.

i3S Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal.

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April 2019

A pair of peptides inhibits seeding of the hormone transporter transthyretin into amyloid fibrils.

J Biol Chem 2019 04 7;294(15):6130-6141. Epub 2019 Feb 7.

From the Departments of Biological Chemistry and Chemistry and Biochemistry, Howard Hughes Medical Institute, UCLA-DOE Institute, Molecular Biology Institute, UCLA, Los Angeles, California 90095-1570,

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April 2019

Oligonucleotide Drugs for Transthyretin Amyloidosis.

N Engl J Med 2018 11;379(21):2085-6

Hospital de Santo António, Porto, Portugal

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November 2018

Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy.

Neurology 2018 11 17;91(21):e1999-e2009. Epub 2018 Oct 17.

From the Andrade's Center for Familial Amyloidosis and Department of Neurosciences (T.C.), Hospital de Santo António, Centro Hospitalar do Porto; Instituto de Medicina Molecular (M.I., I.C., M.d.C., J.C.), Laboratório de Farmacologia Clínica e Terapêutica (J.C.), and Centro de Estudos de Medicina Baseada na Evidência (J.C.), Faculdade de Medicina, Universidade de Lisboa; Department of Neurosciences and Mental Health (I.C., M.d.C.), Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Portugal; and Centre for Health Economics (M.S.), University of York, UK.

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November 2018

Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study.

Neuroepidemiology 2018 28;51(3-4):177-182. Epub 2018 Aug 28.

Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

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September 2019

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis.

N Engl J Med 2018 Jul;379(1):22-31

From the Indiana University School of Medicine, Indianapolis (M.D.B.); Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello, National Amyloidosis Referral Center, University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro (M.W.-C.); Amyloidosis Center, Boston University School of Medicine (J.L.B.) and Brigham and Women's Hospital, Harvard Medical School (A.M.S., S.D.S.), Boston; Johns Hopkins University, Baltimore (M.P.); Mayo Clinic, Rochester, MN (P.J.D., W.J.L., M.A.G.); University of California, Irvine, Irvine (A.K.W.); Amyloid Network-Hospital Henri Mondor-Assistance Publique-Hôpitaux de Paris (AP-HP)-Université Paris Est, Créteil, France (V.P.-B.); Institute for Neurologic Research Raúl Carrea, FLENI, Buenos Aires (F.A.B.); Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia (G.M., L.O.), and Unit of Neurology, University Hospital, Messina (G.V.) - both in Italy; Hospital AACD (Associação de Assistência à Criança Deficiente), São Paulo (M.S.); Columbia University Medical Center (T.H.B.) and Mount Sinai Medical Center (P.D.G.), New York; University College London-National Amyloidosis Centre, London (C.W.); Penn Presbyterian Medical Center, University of Pennsylvania Health System, Philadelphia (B.M.D.); Centre Hospitaliere Universitaire Bicêtre, AP-HP, Unité 1195, INSERM, Université Paris-Sud, Paris (D.A.); Oregon Health and Science University, Portland (S.B.H.); Centro Hospitalar Lisboa Norte-Hospital de Santa Maria, Lisbon (I.C.), and Centro Hospitalar do Porto, Porto (T.C.) - both in Portugal; Universitätsklinikum Münster, Münster, Germany (H.H.S.); Hospital Clínic, Universitat de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (J.M.C.), and Hospital Universitari Vall d'Hebron (J.G.), Barcelona; Auckland City Hospital, Auckland, New Zealand (E.G.); and Ionis Pharmaceuticals, Carlsbad, CA (B.P.M., S.G.H., T.J.K., B.W.M., S.W.J., B.F.B., E.J.A.).

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July 2018

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis.

N Engl J Med 2018 07;379(1):11-21

From Assistance Publique-Hôpitaux de Paris (APHP), National Reference Center for Familial Amyloidotic Polyneuropathy, Centre Hospitalier Universitaire (CHU) Bicêtre, INSERM Unité 1195, Université Paris-Sud, Le Kremlin-Bicêtre (D.A.), the Department of Neuromuscular Disorders and ALS, Hôpital de la Timone, Marseille (S.A.), and the Department of Neurology, Amyloid Network, CHU Henri Mondor-APHP, Créteil (V.P.-B.) - all in France; the National Institute of Medical Sciences and Nutrition-Salvador Zubiran, Mexico City (A.G.-D.); the Department of Clinical Research, eStudySite, San Diego, CA (W.D.O.); the Department of Neurology, National Taiwan University Hospital (C.-C.Y.), and the Department of Neurology, Taipei Veterans General Hospital (K.-P.L.), Taipei, Taiwan; Kumamoto University Hospital, Kumamoto (M.U.), and the Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto (Y.S.) - both in Japan; the Department of Cardiology, University of Heidelberg, Heidelberg (A.V.K.), and Medizinische Klinik B für Gastroenterologie und Hepatologie, Universitätsklinikum Münster, Münster (H.H.S.) - both in Germany; University Multiprofile Hospital for Active Treatment, Sofia, Bulgaria (I.T.); Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal (T.C.); the Amyloidosis Center, Department of Medicine, Boston Medical Center (J.L.B.), and Harvard Medical School (S.D.S.), Boston; the Department of Clinical and Experimental Medicine, University Hospital of Messina, Messina, Italy (G.V.); the Departments of Neurology and Medicine, Vancouver General Hospital, Vancouver, BC, Canada (M.M.M.); the Department of Nephrology, Hospital Clinic, Barcelona (J.M.C.), and the Balearic Islands Health Research Institute and Hospital Son Llatzer, Palma de Mallorca (J.B.) - all in Spain; the Department of Neurology, Columbia University, College of Physicians and Surgeons, New York (T.H.B.); Samsung Medical Center, Sungkyunkwan University School of Medicine (B.J.K.), and the the Department of Neurology, Konkuk University Medical Center (J.O.), Seoul, South Korea; the Department of Neurology, Istanbul University, Istanbul, Turkey (Y.P.); the Division of Medicine, University College London, London (P.N.H.); Johns Hopkins Bayview Medical Center, Baltimore (M.P.); the Department of Neurology, Mayo Clinic, Rochester, MN (P.J.D.); Alnylam Pharmaceuticals, Cambridge, MA (P.J.G., S.G., J.C., A.L.S., S.V.N., M.T.S., P.P.G., A.K.V., J.A.G.); and the Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden (O.B.S.).

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July 2018

Psychopathological Dimensions in Portuguese Subjects with Transthyretin Familial Amyloid Polyneuropathy.

Biomed Hub 2017 Sep-Dec;2(3):1-14. Epub 2017 Dec 13.

ICBAS - Instituto de Ciências Biomédicos Abel Salazar, Universidade do Porto, Porto, Portugal.

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December 2017

Age-dependent cognitive dysfunction in untreated hereditary transthyretin amyloidosis.

J Neurol 2018 Feb 5;265(2):299-307. Epub 2017 Dec 5.

Unidade Corino de Andrade, Centro Hospitalar do Porto, Hospital de Santo António, Largo Abel Salazar, 4099-001, Porto, Portugal.

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February 2018

Clinical outcomes after preimplantation genetic diagnosis of patients with Corino de Andrade disease (familial amyloid polyneuropathy).

Reprod Biomed Online 2018 Jan 12;36(1):39-46. Epub 2017 Oct 12.

Centre for Reproductive Genetics A. Barros (CGR), Porto, Portugal; Department of Genetics, Faculty of Medicine, Institute of Health Research and Innovation (I3S), University of Porto, Porto, Portugal.

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January 2018

Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study.

J Community Genet 2018 Jan 19;9(1):93-99. Epub 2017 Oct 19.

Serviço de Psiquiatria e Saúde Mental do Centro Hospitalar do Porto, Porto, Portugal.

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January 2018

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy.

J Neurol Neurosurg Psychiatry 2018 03 10;89(3):300-304. Epub 2017 Oct 10.

Centre for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics (LGB), Universidade de Coimbra, Coimbra, Portugal.

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March 2018

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.

Genes (Basel) 2017 Oct 3;8(10). Epub 2017 Oct 3.

Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães, Centro Hospitalar do Porto, 4050-106 Porto, Portugal.

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October 2017

Corino de Andrade disease: mechanisms and impact on reproduction.

JBRA Assist Reprod 2017 06 1;21(2):105-114. Epub 2017 Jun 1.

Laboratory of Cell Biology, Department of Microscopy, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Portugal.

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June 2017

A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal.

Mol Neurobiol 2018 May 19;55(5):3676-3683. Epub 2017 May 19.

UnIGENe, IBMC-Institute for Molecular and Cell Biology; Institute for Research and Innovation in Health Sciences (i3S), University of Porto, 4200-135, Porto, Portugal.

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May 2018

The ever-growing understanding of transthyretin amyloidosis nephropathy.

Amyloid 2017 Mar;24(sup1):117-118

a Department of Nephrology , Hospital de Santo António , Centro Hospitalar do Porto , Portugal.

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March 2017

Amyloid detection in the transverse carpal ligament of patients with hereditary ATTR V30M amyloidosis and carpal tunnel syndrome.

Amyloid 2017 Jun 16;24(2):73-77. Epub 2017 Apr 16.

c Neurophysiology Department , Centro Hospitalar do Porto - Hospital de Santo António , Porto , Portugal.

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June 2017

Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset.

Ann Clin Transl Neurol 2017 02 20;4(2):98-105. Epub 2016 Dec 20.

i3S Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal; UnIGENeIBMC - Institute for Molecular and Cell Biology Universidade do Porto Porto Portugal; ICBAS Instituto Ciências Biomédicas Abel Salazar Universidade do Porto Porto Portugal.

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February 2017

Peripheral Blood Cell Gene Expression Diagnostic for Identifying Symptomatic Transthyretin Amyloidosis Patients: Male and Female Specific Signatures.

Theranostics 2016 18;6(11):1792-809. Epub 2016 Jul 18.

Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 N. Torrey Pines Road, La Jolla, CA 92037.

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September 2017

Clinical measures in transthyretin familial amyloid polyneuropathy.

Muscle Nerve 2017 03 16;55(3):323-332. Epub 2016 Dec 16.

FoldRx Pharmaceuticals, Inc., a wholly owned subsidiary of Pfizer, Inc., Cambridge, Massachusetts, USA.

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March 2017

New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

J Hum Genet 2016 Jun 4;61(6):497-505. Epub 2016 Feb 4.

Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal.

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June 2016

Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.

Curr Opin Neurol 2016 Feb;29 Suppl 1:S27-35

aAmyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy bDepartment of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands cServicio de Medicina Interna, Hospital Son Llatzer, Palma de Mallorca, Spain dCHU Bicêtre (APHP), Université Paris-Sud, Paris, France eDepartment of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden fHospital Santo António, Centro Hospitalar do Porto, Porto, Portugal gCyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

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February 2016

First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy.

Curr Opin Neurol 2016 Feb;29 Suppl 1:S14-26

aFrench Reference Center for FAP (NNERF), CHU Bicêtre (APHP), Université Paris-Sud, FILNEMUS, Paris, France bDepartment of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden cUniversität Heidelberg, Heidelberg, Germany dAmyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy eDepartment of Neurology, Medical University - Sofia, Sofia, Bulgaria fDepartment of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria gInstituto Clínico de Nefrología y Urología ICNU, Barcelona, Spain hHôpital Antoine Beclere, Université Paris-Sud, Clamart, France iUniversity Medical Center Groningen, University of Groningen, Groningen, the Netherlands jHospital Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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February 2016

Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.

Curr Opin Neurol 2016 Feb;29 Suppl 1:S3-S13

aDepartment of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey bCHU Bicêtre, Université Paris-Sud, Paris, France cAmyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy dServicio de Neurología, Hospital Clínico San Carlos, Madrid, Spain eUniversity Hospital Sofiamed, Sofia, Bulgaria fDepartment of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden gHospital Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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February 2016

Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study.

Orphanet J Rare Dis 2015 Sep 4;10:109. Epub 2015 Sep 4.

National Reference Center for FAP (NNERF)/ APHP/ INSERM U 1191/ Hôpital de Bicêtre, 78, rue du General Leclerc, 94275, Le Kremlin-Bicêtre, France.

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September 2015

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M).

Eur J Hum Genet 2016 May 19;24(5):756-60. Epub 2015 Aug 19.

UnIGENe, IBMC, Institute for Molecular and Cell Biology, and Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal.

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May 2016

Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study.

Neurology 2015 Aug 24;85(8):675-82. Epub 2015 Jul 24.

From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA.

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August 2015

The Val30Met familial amyloid polyneuropathy specific Rasch-built overall disability scale (FAP-RODS(©) ).

J Peripher Nerv Syst 2015 Sep;20(3):319-27

Unidade Clinica de Paramiloidose, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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September 2015

[Prevalence of use of preimplantation genetic diagnosis in Unidade Clínica de Paramiloidose from Centro Hospitalar do Porto].

Acta Med Port 2014 Nov-Dec;27(6):710-6. Epub 2014 Dec 30.

Instituto de Saúde Pública da Universidade do Porto (ISPUP). Departamento de Epidemiologia Clínica, Medicina Preditiva e Saúde Pública. Faculdade de Medicina. Universidade do Porto. Porto. Portugal.

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December 2016

CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings.

J Neurol Neurosurg Psychiatry 2015 Feb 4;86(2):159-67. Epub 2014 Aug 4.

Unidade Corino de Andrade, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal Serviço de Neurofisiologia, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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February 2015

PARK2 presenting as a disabling peripheral axonal neuropathy.

Neurol Sci 2015 Feb 25;36(2):341-3. Epub 2014 Jul 25.

Department of Neurology, Centro Hospitalar do Porto, Hospital de Santo António, Largo Prof. Abel Salazar, 4099-001, Porto, Portugal,

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February 2015

Awareness and motives for use and non-use of preimplantation genetic diagnosis in familial amyloid polyneuropathy mutation carriers.

Prenat Diagn 2014 Sep 13;34(9):886-92. Epub 2014 May 13.

Department of Clinical Epidemiology, Predictive Medicine and Public Health, University of Porto Medical School, Porto, Portugal; Unidade Clínica de Paramiloidose, Centro Hospitalar do Porto, Porto, Portugal.

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September 2014

Vitreous Amyloidosis as the Presenting Symptom of Familial Amyloid Polyneuropathy TTR Val30Met in a Portuguese Patient.

Case Rep Ophthalmol 2014 Jan 15;5(1):92-7. Epub 2014 Mar 15.

Familial Amyloid Polyneuropathy Clinical Unit, Centro Hospitalar do Porto, Porto, Portugal ; Neurophysiology Department, Hospital Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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January 2014

Quantification of transthyretin kinetic stability in human plasma using subunit exchange.

Biochemistry 2014 Apr 24;53(12):1993-2006. Epub 2014 Mar 24.

Department of Chemistry, ‡The Skaggs Institute for Chemical Biology, §Department of Molecular and Experimental Medicine, and ∥Department of Chemical Physiology, The Scripps Research Institute , La Jolla, California 92037, United States.

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April 2014

Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.

J Neurol Neurosurg Psychiatry 2014 Mar 17;85(3):326-30. Epub 2013 Sep 17.

UnIGENe, IBMC-Instituto Biologia Molecular Celular, Universidade do Porto, , Porto, Portugal.

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March 2014

Guideline of transthyretin-related hereditary amyloidosis for clinicians.

Orphanet J Rare Dis 2013 Feb 20;8:31. Epub 2013 Feb 20.

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto, 860-8556, Japan.

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February 2013

THAOS - The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis.

Curr Med Res Opin 2013 Jan 13;29(1):63-76. Epub 2012 Dec 13.

Centre for the Study of Amyloidoses, Hospital Santo António, Porto, Portugal.

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January 2013

The Transthyretin Amyloidosis Outcomes Survey (THAOS) registry: design and methodology.

Curr Med Res Opin 2013 Jan 13;29(1):77-84. Epub 2012 Dec 13.

Department of Neurology, CHU Henri Mondor, Créteil, France.

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January 2013

Autonomic dysfunction affects cerebral neurovascular coupling.

Clin Auton Res 2011 Dec 28;21(6):395-403. Epub 2011 Jul 28.

Department of Neurology, Hospital São João, Alameda Professor Hernani Monteiro, Porto, Portugal.

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December 2011

Cardiac involveent in type 1 myotonic dystrophy.

Rev Port Cardiol 2007 Sep;26(9):829-40

Departamento de Medicina, Serviço de Cardiologia, Hospital Geral de Santo António, Porto, Portugal.

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September 2007

Ambulatory electrocardiographic monitoring in type 1 myotonic dystrophy.

Rev Port Cardiol 2007 Jul-Aug;26(7-8):745-53

Serviços de Cardiologia e Neurologia--Hospital Geral de Santo António, Porto, Portugal.

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February 2008

Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease.

Hum Mol Genet 2005 Feb 13;14(4):543-53. Epub 2005 Jan 13.

Department of Molecular and Experimental Medicine, Division of Rheumatology Research and the WM Keck Autoimmune Disease Center, The Scripps Research Institute, La Jolla, CA 92037, USA.

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February 2005

Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.

Eur J Hum Genet 2004 Mar;12(3):225-37

Division of Rheumatology Research and the W. M. Keck Autoimmune Disease Center, Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA.

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March 2004

[Phenotypic evolution in adrenoleukodystrophy].

Acta Med Port 2003 Jul-Aug;16(4):285-8

Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital Geral de Santo António, Porto.

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May 2012