Isabel Conceição

Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study.

Lancet Neurol 2021 01 16;20(1):49-59. Epub 2020 Nov 16.

Centro Hospitalar Universitário do Porto, Porto, Portugal.

January 2021

A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis.

Authors:

Teresa Coelho David Adams Isabel Conceição Márcia Waddington-Cruz Hartmut H Schmidt Juan Buades Josep Campistol John L Berk Michael Polydefkis Jing Jing Wang Jihong Chen Marianne T Sweetser Jared Gollob Ole B Suhr

Orphanet J Rare Dis 2020 07 8;15(1):179. Epub 2020 Jul 8.

Umeå University, Universitetstorget 16, 901 87, Umeå, Sweden.

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July 2020

Motor excitability measurements in early stage familial amyloid polyneuropathy: The influence of tafamidis treatment.

Authors:

Isabel Casanova André Caetano Andrés Díaz Isabel Conceição Marisa Brum Mamede de Carvalho

Neurophysiol Clin 2020 Jul 4;50(3):145-153. Epub 2020 Jun 4.

Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; Department of Neurosciences, Centro Hospitalar Universário Lisboa-Norte, Hospital de Santa Maria, Lisbon, Portugal. Electronic address:

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July 2020

The sensitivity of DPD scintigraphy to detect transthyretin cardiac amyloidosis in V30M mutation depends on the phenotypic expression of the disease.

Authors:

Maria C Azevedo Coutinho Nuno Cortez-Dias Guilhermina Cantinho Susana Gonçalves Miguel Nobre Menezes Tatiana Guimarães Gustavo Lima da Silva Ana Rita Francisco João Agostinho Laura Santos Isabel Conceição Fausto J Pinto

Amyloid 2020 Sep 2;27(3):174-183. Epub 2020 Jun 2.

Cardiology Service, Heart and Vessels Department, Centro Hospitalar Universitário Lisboa Norte and Cardiovascular Centre at Universidade de Lisboa, Faculty of Medicine, Lisbon, Portugal.

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September 2020

Impact of Non-Cardiac Clinicopathologic Characteristics on Survival in Transthyretin Amyloid Polyneuropathy.

Authors:

Alejandra González-Duarte Isabel Conceição Leslie Amass Marc F Botteman John A Carter Michelle Stewart

Neurol Ther 2020 Jun 31;9(1):135-149. Epub 2020 Mar 31.

Pfizer Inc, Groton, CT, USA.

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June 2020

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

Authors:

Mónica Inês Teresa Coelho Isabel Conceição Lara Ferreira Mamede de Carvalho João Costa

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

Correction to: Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.

Authors:

Alejandra González-Duarte John L Berk Dianna Quan Michelle L Mauermann Hartmut H Schmidt Michael Polydefkis Márcia Waddington-Cruz Mitsuharu Ueda Isabel M Conceição Arnt V Kristen Teresa Coelho Cécile A Cauquil Céline Tard Madeline Merkel Emre Aldinc Jihong Chen Marianne T Sweetser Jing Jing Wang David Adams

J Neurol 2020 Mar;267(3):713-714

AP-HP, Université Paris Saclay, CHU Bicêtre, Université Paris-Sud, INSERM 1195, Paris, France.

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March 2020

Plasma neurofilament light chain: an early biomarker for hereditary ATTR amyloid polyneuropathy.

Authors:

Luis F Maia Aleksandra Maceski Isabel Conceição Laura Obici Rui Magalhães Andreas Cortese David Leppert Giampaolo Merlini Jens Kuhle Maria João Saraiva

Amyloid 2020 Jun 6;27(2):97-102. Epub 2020 Jan 6.

Molecular Neurobiology Group, Instituto de Biologia Molecular e Celular (IBMC) - Instituto de Investigação e Inovação em Saúde (i3S) da Universidade do Porto, Porto, Portugal.

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June 2020

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands.

Authors:

Catarina Falcão de Campos Miguel Oliveira Santos Rafael Roque Isabel Conceição Mamede de Carvalho

Case Rep Neurol Med 2019 11;2019:5976410. Epub 2019 Dec 11.

Department of Neurology, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.

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December 2019

Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy.

Authors:

Mónica Inês Teresa Coelho Isabel Conceição Filipa Landeiro Mamede de Carvalho João Costa

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

Inotersen preserves or improves quality of life in hereditary transthyretin amyloidosis.

J Neurol 2020 Apr 18;267(4):1070-1079. Epub 2019 Dec 18.

Boston University School of Medicine, Boston, MA, USA.

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April 2020

Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy.

Authors:

Miguel Oliveira Santos Pedro Coelho Rafael Roque Isabel Conceição

J Clin Neurosci 2020 Feb 10;72:471-473. Epub 2019 Dec 10.

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

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February 2020

Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.

Authors:

Alejandra González-Duarte John L Berk Dianna Quan Michelle L Mauermann Hartmut H Schmidt Michael Polydefkis Márcia Waddington-Cruz Mitsuharu Ueda Isabel M Conceição Arnt V Kristen Teresa Coelho Cécile A Cauquil Céline Tard Madeline Merkel Emre Aldinc Jihong Chen Marianne T Sweetser Jing Jing Wang David Adams

J Neurol 2020 Mar 14;267(3):703-712. Epub 2019 Nov 14.

AP-HP, Université Paris Saclay, CHU Bicêtre, Université Paris-Sud, INSERM 1195, Paris, France.

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March 2020

Novel RNA-targeted therapies for hereditary ATTR amyloidosis and their impact on the autonomic nervous system.

Authors:

Isabel Conceição

Clin Auton Res 2019 09 9;29(Suppl 1):11-17. Epub 2019 Aug 9.

Department of Neurosciences and Mental Health, CHULN, Hospital de Santa Maria, Av. Prof. Egas Moniz, 1649-035, Lisbon, Portugal.

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September 2019

Response: Suhr OB: commentary to Isabel Conceição et al. early diagnosis through targeted follow-up of identified carriers of gene mutations.

Authors:

Isabel Conceição

Amyloid 2019 12 31;26(4):248-249. Epub 2019 Jul 31.

Department of Neurology, CHULN-HSM and Fac Med-IMM, Universidade de Lisboa , Lisboa , Portugal.

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December 2019

Correlation between Sudoscan and COMPASS 31: assessment of autonomic dysfunction on hATTR V30M patients.

Authors:

Isabel Conceição Isabel de Castro José Castro

Amyloid 2019;26(sup1):23

a Department of Neurosciences, CHLN - Hospital Santa Maria , Lisbon , Portugal.

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January 2020

Early diagnostic tools in hereditary amyloidosis related to transthyretin (hATTR) V30M autonomic neuropathy.

Authors:

Catarina Falcão de Campos Isabel Conceição Isabel de Castro

Amyloid 2019;26(sup1):35-36

a Department of Neurosciences and Mental Health, Division of Neurology, Hospital de Santa Maria - CHLN , Lisbon , Portugal.

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January 2020

Misdiagnosis in late versus early onset hATTR amyloidosis patients: experience from a reference centre.

Authors:

Catarina Falcão de Campos Sara Parreira Isabel Conceição

Amyloid 2019;26(sup1):37-38

a Department of Neurosciences and Mental Health, Division of Neurology, Hospital de Santa Maria-CHLN , Lisbon , Portugal.

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January 2020

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

Authors:

Isabel Conceição Teresa Coelho Claudio Rapezzi Yeşim Parman Laura Obici Lucía Galán Antoine Rousseau

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

Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations.

Authors:

Isabel Conceição Thibaud Damy Manuel Romero Lucía Galán Shahram Attarian Marco Luigetti Menachem Sadeh Stayko Sarafov Ivailo Tournev Mitsuharu Ueda

Amyloid 2019 Mar 22;26(1):3-9. Epub 2019 Feb 22.

k Department of Neurology , Kumamoto University , Kumamoto , Japan.

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March 2019

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