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Rare Diseases: Original articles

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

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Pages 77-84 | Accepted 27 Nov 2012, Published online: 13 Dec 2012

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Read on this site (8)

Catarina Falcão de Campos & Isabel Conceição. (2023) Updated Evaluation of the Safety, Efficacy and Tolerability of Tafamidis in the Treatment of Hereditary Transthyretin Amyloid Polyneuropathy. Drug, Healthcare and Patient Safety 15, pages 51-62.
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Teresa Coelho, Isabel Conceição, Márcia Waddington-Cruz, Denis Keohane, Marla B. Sultan, Doug Chapman & Leslie Amass. (2022) A natural history analysis of asymptomatic TTR gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS). Amyloid 29:4, pages 228-236.
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Fabio A. Barroso, Teresa Coelho, Angela Dispenzieri, Isabel Conceição, Marcia Waddington-Cruz, Jonas Wixner, Mathew S. Maurer, Claudio Rapezzi, Violaine Planté-Bordeneuve, Arnt V. Kristen, Alejandra González-Duarte, Doug Chapman, Michelle Stewart & Leslie Amass. (2022) Characteristics of patients with autonomic dysfunction in the Transthyretin Amyloidosis Outcomes Survey (THAOS). Amyloid 29:3, pages 175-183.
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Peter Huber, Alison Flynn, Marla B. Sultan, Huihua Li, Denise Rill, Ben Ebede, Balarama Gundapaneni & Jeffrey H. Schwartz. (2019) A comprehensive safety profile of tafamidis in patients with transthyretin amyloid polyneuropathy. Amyloid 26:4, pages 203-209.
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Shenia Novis, Felipe Machado, Victor B. Costa, Debora Foguel, Marcia W. Cruz & José Manoel de Seixas. (2017) Applying an artificial neural network model for developing a severity score for patients with hereditary amyloid polyneuropathy. Amyloid 24:3, pages 153-161.
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Laura Obici & Giampaolo Merlini. (2014) An overview of drugs currently under investigation for the treatment of transthyretin-related hereditary amyloidosis. Expert Opinion on Investigational Drugs 23:9, pages 1239-1251.
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Renato Polimanti, Marco Di Girolamo, Dario Manfellotto & Maria Fuciarelli. (2013) Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes. Amyloid 20:4, pages 256-262.
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Hartmut H-J Schmidt. (2013) Tafamidis for the treatment of transthyretin-associated familial amyloid polyneuropathy. Expert Opinion on Orphan Drugs 1:10, pages 837-845.
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Articles from other publishers (36)

Luca Gentile, Teresa Coelho, Angela Dispenzieri, Isabel Conceição, Márcia Waddington-Cruz, Arnt Kristen, Jonas Wixner, Igor Diemberger, Juan Gonzalez-Moreno, Eve Cariou, Mathew S. Maurer, Violaine Planté-Bordeneuve, Pablo Garcia-Pavia, Ivailo Tournev, Jose Gonzalez-Costello, Alejandra Gonzalez Duarte, Martha Grogan, Anna Mazzeo, Doug Chapman, Pritam Gupta, Oliver Glass & Leslie Amass. (2023) A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Orphanet Journal of Rare Diseases 18:1.
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Dulce Brito, Fabiano Castro Albrecht, Diego Perez de Arenaza, Nicole Bart, Nathan Better, Isabel Carvajal-Juarez, Isabel Conceição, Thibaud Damy, Sharmila Dorbala, Jean-Christophe Fidalgo, Pablo Garcia-Pavia, Junbo Ge, Julian D. Gillmore, Jacek Grzybowski, Laura Obici, Daniel Piñero, Claudio Rapezzi, Mitsuharu Ueda & Fausto J. Pinto. (2023) World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM). Global Heart 18:1.
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Lily K. Stern, Justin L. Grodin, Mathew S. Maurer, Frederick L. Ruberg, Ayan R. Patel, Michel G. Khouri, Lori R. Roth, Mandar A. Aras, Anju Bhardwaj, Priyanka Bhattacharya, Yevgeniy Brailovsky, Brian M. Drachman, Imo A. Ebong, Nowell M Fine, Hanna Gaggin, Deepa Gopal, Jan Griffin, Daniel Judge, Paul Kim, Joshua Mitchell, Sumeet S. Mitter, Rajeev C. Mohan, Hannia Ramos, Alex Reyentovich, Farooq H. Sheikh, Brett Sperry, Spencer Carter, Marcus Urey, Joban Vaishnav, Amanda R. Vest, Michelle M. Kittleson & Jignesh K. Patel. (2023) The Cardiac Amyloidosis Registry Study (CARS): Rationale, Design and Methodology. Journal of Cardiac Failure.
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Angela Dispenzieri, Teresa Coelho, Isabel Conceição, Márcia Waddington-Cruz, Jonas Wixner, Arnt V. Kristen, Claudio Rapezzi, Violaine Planté-Bordeneuve, Juan Gonzalez-Moreno, Mathew S. Maurer, Martha Grogan, Doug Chapman, Leslie Amass, Pablo Garcia Pavia, Ivaylo Tarnev, Jose Gonzalez Costello, Maria Alejandra Gonzalez Duarte Briseno, Hartmut Schmidt, Brian Drachman, Fabio Adrian Barroso, Taro Yamashita, Olivier Lairez, Yoshiki Sekijima, Giuseppe Vita, Eun-Seok Jeon, Mazen Hanna, David Slosky, Marco Luigetti, Samantha LoRusso, Francisco Munoz Beamud, David Adams, Henning Moelgaard, Rayomand Press, Calogero Lino Cirami, Hans Nienhuis, Josep Maria Campistol Plana, Jocelyn Inamo, Daniel Jacoby, Michele Emdin, Dianna Quan, Scott Hummel, Ronald Witteles, Amir Dori, Sanjiv Shah, Daniel Lenihan, Olga Azevedo, Srinivas Murali, Sasa Zivkovic, Soon Chai Low, Jose Nativi-Nicolau, Nowell Fine, Jose Tallaj, Carsten Tschoepe, Roberto Fernandéz Torrón, Michael Polydefkis, Giampaolo Merlini, Sorina Badelita, Stephen Gottlieb, James Tauras, Edileide Barros Correia, Hector Ventura, Burkhard Gess, Felix Darstein, Jeeyoung Oh, Tessa Marburger, Johan Van Cleemput, Valeria Lujan Salutto, Yesim Parman, Chi-Chao Chao, Nitasha Sarswat, Christopher Mueller, David Steidley, Jeffrey Ralph, Alberta Warner, William Cotts, James Hoffman, Marcelo Rugiero, Sonoko Misawa, Jose Luis Munoz Blanco, Lucia Galan Davila, Menachem Sadeh, Jin Luo, Theodoros Kyriakides, Annabel Wang, Horacio Kaufmann & Sasa Zivkovic. (2022) Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update. Orphanet Journal of Rare Diseases 17:1.
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Courtney M. Campbell, Samantha LoRusso, Angela Dispenzieri, Arnt V. Kristen, Mathew S. Maurer, Claudio Rapezzi, Olivier Lairez, Brian Drachman, Pablo Garcia-Pavia, Martha Grogan, Doug Chapman, Leslie Amass, Michele Emdin, Mazen Hanna, Olga Azevedo, Calogero Lino Cirami, Daniel Jacoby, Jose Gonzalez Costello, David Slosky, Henning Moelgaard, Scott Hummel, Jose Nativi-Nicolau, Srinivas Murali, Nowell Fine, Eun-Seok Jeon, Sanjiv Shah, Ronald Witteles, Daniel Lenihan, Marcia Waddington-Cruz, Yoshiki Sekijima, Jose Tallaj, Christopher Mueller, Johan Van Cleemput, Violaine Planté-Bordeneuve, Hans Nienhuis, Dianna Quan, David Steidley, Hartmut Schmidt, Jonas Wixner, Michael Polydefkis, Jeffrey Ralph, Hector Ventura, Sasa Zivkovic, Burkhard Gess, Roberto Fernandéz Torrón, Stephen Gottlieb, William Cotts, James Tauras, Nitasha Sarswat, Juan González Moreno, Yesim Parman & Jin Luo. (2022) Sex Differences in Wild-Type Transthyretin Amyloidosis: An Analysis from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Cardiology and Therapy 11:3, pages 393-405.
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Enrico Ammirati & Omar F AbouEzzeddine. (2022) Transthyretin amyloidosis in Western Europe: a snapshot from the THAOS registry and a call for further perspectives. European Heart Journal 43:5, pages 401-404.
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Thibaud Damy, Arnt V Kristen, Ole B Suhr, Mathew S Maurer, Violaine Planté-Bordeneuve, Ching-Ray Yu, Moh-Lim Ong, Teresa Coelho & Claudio Rapezzi. (2022) Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS). European Heart Journal 43:5, pages 391-400.
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Juan González-Moreno, Inés Losada-López, Eugenia Cisneros-Barroso, Pablo Garcia-Pavia, José González-Costello, Francisco Muñoz-Beamud, Josep Maria Campistol, Roberto Fernandez-Torron, Doug Chapman & Leslie Amass. (2021) A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey. Neurology and Therapy 10:2, pages 833-845.
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Márcia Waddington-Cruz, Jonas Wixner, Leslie Amass, Jan Kiszko, Doug Chapman, Yukio Ando, Fabio Adrian Barroso, Marcelo Rugiero, Johan Van Cleemput, Ivaylo Tarnev, Theodoros Kyriakides, Arnt Kristen, Hartmut Schmidt, Felix Darstein, Burkhard Gess, Josep Maria Campistol Plana, Juan Gonzalez Moreno, Jose Gonzalez Costello, Pablo Garcia Pavia, Roberto Fernandéz Torrón, Francisco Munoz Beamud, Violaine Planté-Bordeneuve, David Adams, Olivier Lairez, Claudio Rapezzi, Giampaolo Merlini, Marco Luigetti, Yoshiki Sekijima, Taro Yamashita, Sonoko Misawa, Soon Chai Low, Hans Nienhuis, Teresa Coelho, Isabel Conceição, Rayomand Press, Yesim Parman, Mathew Maurer, Stephen Gottlieb, Annabel Wang, Brian Drachman, Angela Dispenzieri, Sasa Zivkovic & Daniel Lenihan. (2021) Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Neurology and Therapy 10:2, pages 753-766.
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Luca Gentile, Ivailo Tournev, Leslie Amass, Doug Chapman, Anna Mazzeo, Fabio Barroso, Johan van Cleemput, Hartmut Schmidt, Burkhard Gess, Pablo Garcia Pavia, José Luis Muñoz Blanco, Claudio Rapezzi, Giuseppe Vita, Giampaolo Merlini, Marco Luigetti, Yesim Parman, Mathew Maurer & Samantha LoRusso. (2021) Phenotypic Differences of Glu89Gln Genotype in ATTR Amyloidosis From Endemic Loci: Update From THAOS. Cardiology and Therapy 10:2, pages 481-490.
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Angelo Giuseppe Caponetti, Claudio Rapezzi, Christian Gagliardi, Agnese Milandri, Angela Dispenzieri, Arnt V. Kristen, Jonas Wixner, Mathew S. Maurer, Pablo Garcia-Pavia, Ivailo Tournev, Violaine Planté-Bordeneuve, Douglass Chapman, Leslie Amass, Johan van Cleemput, Marcia Waddington-Cruz, Hartmut Schmidt, Klaus-Ulrich Dillmann, Henning Mølgaard, Juan Gonzalez Moreno, Jose Gonzalez Costello, Francisco Munoz Beamud, Lucia Galan Davila, David Adams, Jocelyn Inamo, Olivier Lairez, Giuseppe Vita, Giampaolo Merlini, Calogero Lino Cirami, Marco Luigetti, Michele Emdin, Yoshiki Sekijima, Eun-Seok Jeon, Jeeyoung Oh, Maria Alejandra Gonzalez Duarte Briseno, Hans Nienhuis, Teresa Coelho, Isabel Conceicao, Olga Azevedo, Sorina Badelita, Rayomand Press, Yesim Parman, Sanjiv Shah, Dianna Quan, Tessa Marburger, Michael Polydefkis, Ronald Witteles, Stephen Gottlieb, Nitasha Sarswat, Brian Drachman, David Steidley, Scott Hummel, David Slosky, Daniel Jacoby, Jose Nativi-Nicolau, James Tauras, Sasa Zivkovic, Jose Tallaj & Daniel Lenihan. (2021) Sex-Related Risk of Cardiac Involvement in Hereditary Transthyretin Amyloidosis. JACC: Heart Failure 9:10, pages 736-746.
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Jose Nativi-Nicolau, Alfonso Siu, Angela Dispenzieri, Mathew S. Maurer, Claudio Rapezzi, Arnt V. Kristen, Pablo Garcia-Pavia, Samantha LoRusso, Márcia Waddington-Cruz, Olivier Lairez, Ronald Witteles, Doug Chapman, Leslie Amass, Martha Grogan, Fabio Adrian Barroso, Johan Van Cleemput, Nowell Fine, Hartmut Schmidt, Burkhard Gess, Henning Moelgaard, Violaine Planté-Bordeneuve, David Adams, Jocelyn Inamo, Giuseppe Vita, Calogero Lino Cirami, Marco Luigetti, Michele Emdin, Yoshiki Sekijima, Taro Yamashita, Eun-Seok Jeon, Maria Alejandra Gonzalez Duarte Briseno, Hans Nienhuis, Olga Azevedo, Josep Maria Campistol Plana, Juan Gonzalez Moreno, Jose Gonzalez Costello, Jonas Wixner, Yesim Parman, Sanjiv Shah, Dianna Quan, Tessa Marburger, Michael Polydefkis, Stephen Gottlieb, Jeffrey Ralph, Nitasha Sarswat, Jin Luo, Srinivas Murali, William Cotts, Brian Drachman, David Steidley, Scott Hummel, David Slosky, Hector Ventura, Daniel Jacoby, James Hoffman, James Tauras, Sasa Zivkovic, Jose Tallaj, Daniel Lenihan & Christopher Mueller. (2021) Temporal Trends of Wild-Type Transthyretin Amyloid Cardiomyopathy in the Transthyretin Amyloidosis Outcomes Survey. JACC: CardioOncology 3:4, pages 537-546.
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Márcia Waddington‐Cruz, Yukio Ando, Leslie Amass, Jan Kiszko, Doug Chapman & Yoshiki Sekijima. (2021) Feasibility of assessing progression of transthyretin amyloid polyneuropathy using nerve conduction studies: Findings from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Journal of the Peripheral Nervous System 26:2, pages 160-166.
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Mounira Kharoubi, Fréderic Roche, Mélanie Bézard, David Hupin, Sidney Silva, Silvia Oghina, Coraline Chalard, Amira Zaroui, Arnault Galat, Soulef Guendouz, Florence Canoui‐Poitrine, Luc Hittinger, Emmanuel Teiger, Jean‐Pascal Lefaucheur & Thibaud Damy. (2020) Prevalence and prognostic value of autonomic neuropathy assessed by Sudoscan® in transthyretin wild‐type cardiac amyloidosis. ESC Heart Failure 8:2, pages 1656-1665.
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E. V. Reznik, T. L. Nguyen, E. A. Stepanova, D. V. Ustyuzhanin & I. G. Nikitin. (2020) Cardiac Amyloidosis: Internist and Cardiologist Insight. The Russian Archives of Internal Medicine 10:6, pages 430-457.
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Mónica Inês, Teresa Coelho, Isabel Conceição, Lara Ferreira, Mamede de Carvalho & João Costa. (2020) Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study. Orphanet Journal of Rare Diseases 15:1.
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Jana Junkerová & Eva Kovalová. (2020) Cryptogenic Neuropathy - a retrospective analysis - Transthyretin-related familial amyloid polyneuropathy - differential diagnostic pathway. Neurologie pro praxi 21:4, pages 307-312.
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Thejus Jayakrishnan, Amir Kamran, Deep Shah, Aritra Guha, Muhammad Salman Faisal & Prerna Mewawalla. (2020) Senile Systemic Amyloidosis Presenting as Hematuria: A Rare Presentation and Review of Literature. Case Reports in Medicine 2020, pages 1-5.
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Alejandra González-Duarte, Fabio Barroso, Rajiv Mundayat & Bryan Shapiro. (2019) Blood pressure and orthostatic hypotension as measures of autonomic dysfunction in patients from the transthyretin amyloidosis outcomes survey (THAOS). Autonomic Neuroscience 222, pages 102590.
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Nick Lamb. (2019) Why the Diagnosis of ATTR-Cardiomyopathy May Be a Challenge for Physicians. EMJ Cardiology, pages 66-71.
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Márcia Waddington Cruz, Marcus Vinicius Pinto, Luiz Felipe Pinto, Renata Gervais, Moisés Dias, Carlos Perez, Rajiv Mundayat, Moh-Lim Ong, Roberto Coury Pedrosa & Débora Foguel. (2019) Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS). Arquivos de Neuro-Psiquiatria 77:2, pages 96-100.
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JONAH RUBIN, D. ERIC STEIDLEY, MARTIN CARLSSON, MOH-LIM ONG & MATHEW S. MAURER. (2018) Myocardial Contraction Fraction by M-Mode Echocardiography Is Superior to Ejection Fraction in Predicting Mortality in Transthyretin Amyloidosis. Journal of Cardiac Failure 24:8, pages 504-511.
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Rajiv Mundayat, Michelle Stewart, Jose Alvir, Sarah Short, Moh-Lim Ong, Denis Keohane, Denise Rill & Marla B. Sultan. (2018) Positive Effectiveness of Tafamidis in Delaying Disease Progression in Transthyretin Familial Amyloid Polyneuropathy up to 2 Years: An Analysis from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Neurology and Therapy 7:1, pages 87-101.
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Hartmut H. Schmidt, Márcia Waddington-Cruz, Marc F. Botteman, John A. Carter, Avijeet S. Chopra, Markay Hopps, Michelle Stewart, Shari Fallet & Leslie Amass. (2018) Estimating the global prevalence of transthyretin familial amyloid polyneuropathy. Muscle & Nerve 57:5, pages 829-837.
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Arnt V. Kristen, Mathew S. Maurer, Claudio Rapezzi, Rajiv Mundayat, Ole B. Suhr & Thibaud Damy. (2017) Impact of genotype and phenotype on cardiac biomarkers in patients with transthyretin amyloidosis – Report from the Transthyretin Amyloidosis Outcome Survey (THAOS). PLOS ONE 12:4, pages e0173086.
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Van-Khue Ton, Aditya Bhonsale, Nisha A. Gilotra, Marc K. Halushka, Charles Steenbergen, Johana Almansa, Emily Brown, Ryan J. Tedford, Ilan Wittstein, Kavita Sharma, Stuart D. Russell & Daniel P. Judge. (2017) Baseline Characteristics Predict the Presence of Amyloid on Endomyocardial Biopsy. Journal of Cardiac Failure 23:4, pages 340-344.
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Philippe Kerschen & Violaine Planté-Bordeneuve. (2016) Current and Future Treatment Approaches in Transthyretin Familial Amyloid Polyneuropathy. Current Treatment Options in Neurology 18:12.
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Mathew S. Maurer, Mazen Hanna, Martha Grogan, Angela Dispenzieri, Ronald Witteles, Brian Drachman, Daniel P. Judge, Daniel J. Lenihan, Stephen S. Gottlieb, Sanjiv J. Shah, D. Eric Steidley, Hector Ventura, Srinivas Murali, Marc A. Silver, Daniel Jacoby, Savitri Fedson, Scott L. Hummel, Arnt V. Kristen, Thibaud Damy, Violaine Planté-Bordeneuve, Teresa Coelho, Rajiv Mundayat, Ole B. Suhr, Márcia Waddington Cruz & Claudio Rapezzi. (2016) Genotype and Phenotype of Transthyretin Cardiac Amyloidosis. Journal of the American College of Cardiology 68:2, pages 161-172.
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Laura Obici, Jan B. Kuks, Juan Buades, David Adams, Ole B. Suhr, Teresa Coelho & Theodore Kyriakides. (2016) Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Current Opinion in Neurology 29:Supplement 1, pages S27-S35.
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Yesim Parman, David Adams, Laura Obici, Lucía Galán, Velina Guergueltcheva, Ole B. Suhr & Teresa Coelho. (2016) Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe. Current Opinion in Neurology 29:Supplement 1, pages S3-S13.
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David AdamsTeresa CoelhoLaura ObiciGiampaolo MerliniZoia MinchevaNarupat SuanprasertBrian R. BettencourtJared A. GollobPritesh J. GandhiWilliam J. LitchyPeter J. Dyck. (2015) Rapid progression of familial amyloidotic polyneuropathy. Neurology 85:8, pages 675-682.
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Jose Alvir, Michelle Stewart & Isabel Conceição. (2015) Latent Class Analysis to Classify Patients with Transthyretin Amyloidosis by Signs and Symptoms. Neurology and Therapy 4:1, pages 11-24.
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Claudio Rapezzi, Massimiliano Lorenzini, Simone Longhi, Agnese Milandri, Christian Gagliardi, Ilaria Bartolomei, Fabrizio Salvi & Mathew S. Maurer. (2015) Cardiac amyloidosis: the great pretender. Heart Failure Reviews 20:2, pages 117-124.
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Violaine Plante-Bordeneuve. (2014) Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy. Journal of Neurology 261:6, pages 1227-1233.
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Van-Khue TonMonica MukherjeeDaniel P. Judge. (2015) Transthyretin Cardiac Amyloidosis: Pathogenesis, Treatments, and Emerging Role in Heart Failure with Preserved Ejection Fraction. Clinical Medicine Insights: Cardiology 8s1, pages CMC.S15719.
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Jonas Wixner, Rajiv Mundayat, Onur N Karayal, Intissar Anan, Pontus Karling & Ole B Suhr. (2014) THAOS: Gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease. Orphanet Journal of Rare Diseases 9:1, pages 61.
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