Search Results - "CONCEICAO, ISABEL"

"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy by Conceição, Isabel, González-Duarte, Alejandra, Obici, Laura, Schmidt, Hartmut H.-J., Simoneau, Damien, Ong, Moh-Lim, Amass, Leslie

“…© 2015 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals, Inc. on behalf of Peripheral Nerve Society. This is an open access…”
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Assessment of patients with hereditary transthyretin amyloidosis - understanding the impact of management and disease progression by Conceição, Isabel, Coelho, Teresa, Rapezzi, Claudio, Parman, Yeşim, Obici, Laura, Galán, Lucía, Rousseau, Antoine

“…Timely diagnosis of hereditary variant transthyretin (ATTRv) amyloidosis is critical for appropriate treatment and optimal outcomes. Significant differences…”
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Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study by Suhr, Ole B, Coelho, Teresa, Buades, Juan, Pouget, Jean, Conceicao, Isabel, Berk, John, Schmidt, Hartmut, Waddington-Cruz, Márcia, Campistol, Josep M, Bettencourt, Brian R, Vaishnaw, Akshay, Gollob, Jared, Adams, David

“…Transthyretin-mediated amyloidosis is an inherited, progressively debilitating disease caused by mutations in the transthyretin gene. This study evaluated the…”
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Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy by Schmidt, Hartmut H.-J., Barroso, Fabio, González-Duarte, Alejandra, Conceição, Isabel, Obici, Laura, Keohane, Denis, Amass, Leslie

“…© 2016 The Authors Muscle & Nerve Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons…”
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Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy by Oliveira Santos, Miguel, Evangelista, Teresinha, Conceição, Isabel

“…•Clinical data regarding pregnant Pompe patients on ERT are still scarce.•Mother muscle condition deteriorated after ERT withdrawn in the first trimester.•ERT…”
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Long-term efficacy and safety of inotersen for hereditary transthyretin amyloidosis: NEURO-TTR open-label extension 3-year update by Brannagan, Thomas H., Coelho, Teresa, Wang, Annabel K., Polydefkis, Michael J., Dyck, Peter J., Berk, John L., Drachman, Brian, Gorevic, Peter, Whelan, Carol, CONCEICAO, ISABEL, Plante-Bordeneuve, Violaine, Merlini, Giampaolo, Obici, Laura, Plana, Josep Maria Campistol, Gamez, Josep, Kristen, Arnt V., Mazzeo, Anna, Gentile, Luca, Narayana, Arvind, Olugemo, Kemi, Aquino, Peter, Benson, Merrill D., Gertz, Morie

“…© The Author(s) 2022 Open Access This article is licensed under a Creative Commons Attri- bution 4.0 International License, which permits use, sharing, adapta-…”
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World Heart Federation consensus on transthyretin amyloidosis cardiomyopathy (ATTR-CM) by Brito, Dulce, Albrecht, Fabiano Castro, de Arenaza, Diego Perez, Bart, Nicole, Better, Nathan, Carvajal-Juarez, Isabel, CONCEICAO, ISABEL, Damy, Thibaud, Dorbala, Sharmila, Fidalgo, Jean-Christophe, Garcia-Pavia, Pablo, Ge, Junbo, Gillmore, Julian D., Grzybowski, Jacek, Obici, Laura, Piñero, Daniel, Rapezzi, Claudio, Ueda, Mitsuharu, Pinto, Fausto J.

“…COPYRIGHT: © 2023 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License…”
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The sensitivity of DPD scintigraphy to detect transthyretin cardiac amyloidosis in V30M mutation depends on the phenotypic expression of the disease by Azevedo Coutinho, Maria C., Cortez-Dias, Nuno, Cantinho, Guilhermina, Gonçalves, Susana, Menezes, Miguel Nobre, Guimarães, Tatiana, Lima da Silva, Gustavo, Francisco, Ana Rita, Agostinho, João, Santos, Laura, Conceição, Isabel, Pinto, Fausto J.

“…Background: There is a growing need for a non-invasive test to detect cardiac involvement in patients with transthyretin-related hereditary amyloidosis (ATTR)…”
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Motor neuron disease in three asymptomatic pVal50Met TTR gene carriers by Santos Silva, Cláudia, Oliveira Santos, Miguel, Silva, Marta Luísa Gromicho Morgado, Pronto Laborinho, Ana Catarina, CONCEICAO, ISABEL, de Carvalho, Mamede

“…© 2022 World Federation of Neurology on behalf of the Research Group on Motor Neuron Diseases Purpose: This study aimed to estimate the impact of risk factors…”
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Updated evaluation of the safety, efficacy and tolerability of Tafamidis in the treatment of hereditary transthyretin amyloid polyneuropathy by Falcão de Campos, Catarina, CONCEICAO, ISABEL

“…© 2023 The Author(s). This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at…”
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Early diagnosis in ATTRv amyloidosis, how early is enough? How early is possible? by Conceição, Isabel

“…Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, progressive, and debilitating genetic disorder characterized by the deposition of abnormal…”
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Motor excitability measurements in early stage familial amyloid polyneuropathy: The influence of tafamidis treatment by Casanova, Isabel, Caetano, André, Díaz, Andrés, Conceição, Isabel, Brum, Marisa, de Carvalho, Mamede

“…To test motor fiber excitability in early affected patients with transthyretin (TTR)-type familial amyloid polyneuropathy (TTR-FAP) before and during tafamidis…”
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Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis by Buxbaum, Joel N., Brannagan, Thomas, Buades-Reinés, Juan, Cisneros, Eugenia, Conceicao, Isabel, Kyriakides, Theodoros, Merlini, Giampaolo, Obici, Laura, Plante-Bordeneuve, Violaine, Rousseau, Antoine, Sekijima, Yoshiki, Imai, Akira, Waddington Cruz, Márcia, Yamada, Masahito

“…Background: Ocular abnormalities have been known to occur in hereditary amyloidotic polyneuropathy since the 1950s. While vitreous opacities and scalloped…”
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A peripheral pathway to restless legs syndrome? Clues from familial amyloid polyneuropathy by Teodoro, Tiago, Viana, Pedro, Abreu, Daisy, Conceição, Isabel, Peralta, Rita, Ferreira, Joaquim J

“…Abstract Background The relationship between restless legs syndrome (RLS) and peripheral neuropathy remains unclear. In order to clarify this relationship, we…”
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Editorial: Updating amyloid neuropathy knowledge: from diagnosis to treatment by Conceição, Isabel

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Novel RNA-targeted therapies for hereditary ATTR amyloidosis and their impact on the autonomic nervous system by Conceição, Isabel

“…Purpose Transthyretin-mediated hereditary amyloidosis (hATTR amyloidosis) is a multisystemic disease with heterogeneous clinical presentation. Hallmarks of the…”
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Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy by Coelho, Teresa, Inês, Mónica, Conceição, Isabel, Soares, Marta, de Carvalho, Mamede, Costa, João

“…OBJECTIVETo assess the natural history and treatment effect on survival among patients with transthyretin-associated familial amyloid polyneuropathy (TTR-FAP)…”
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Response: Suhr OB: commentary to Isabel Conceição et al. early diagnosis through targeted follow-up of identified carriers of TTR gene mutations by Conceição, Isabel

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Patisiran, an RNAi therapeutic for the treatment of hereditary transthyretin-mediated amyloidosis by Kristen, Arnt V, Ajroud-Driss, Senda, Conceição, Isabel, Gorevic, Peter, Kyriakides, Theodoros, Obici, Laura

“…Hereditary transthyretin-mediated amyloidosis is a rapidly progressive, heterogeneous disease caused by the accumulation of misfolded transthyretin protein as…”
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The diagnostic accuracy of Sudoscan in Transthyretin Familial Amyloid Polyneuropathy by Castro, José, Miranda, Bruno, Castro, Isabel, de Carvalho, Mamede, Conceição, Isabel

“…Highlights • Assessment of autonomic function is critical in the diagnosis of Transthyretin familial amyloid polyneuropathy (TTR-FAP). • Feet electrochemical…”
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