Publications by authors named "Isabel Conceição"

65Publications

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

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.

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

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

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

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.

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.

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

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

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

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

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.

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.

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.

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.

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.

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