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Grégoire Albenque, Mélanie Bézard, Mounira Kharoubi, Shirley Odouard, Ariane Lunati, Elsa Poullot, Amira Zaroui, Emmanuel Teiger, Luc Hittinger, Vincent Audard, Khalil El Karoui, Benoît Funalot, Pascale Fanen, Thibaud Damy & Silvia Oghina. (2023) Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study. Amyloid 30:4, pages 407-415.
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Arianna Burton, Adam Castaño, Marianna Bruno, Steve Riley, Jennifer Schumacher, Marla B Sultan, Sandi See Tai, Daniel P Judge, Jignesh K Patel & Jeffery W Kelly. (2021) Drug Discovery and Development in Rare Diseases: Taking a Closer Look at the Tafamidis Story. Drug Design, Development and Therapy 15, pages 1225-1243.
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Tamer Rezk, Marianna Fontana & Julian D. Gillmore. (2021) A review of the criteria for non-invasive diagnosis of cardiac transthyretin amyloidosis. Expert Opinion on Orphan Drugs 9:3, pages 87-94.
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Volha Skrahina, Ulrike Grittner, Christian Beetz, Thomas Skripuletz, Martin Juenemann, Heidrun H. Krämer, Katrin Hahn, Andreas Rieth, Volker Schaechinger, Monica Patten, Christian Tanislav, Stephan Achenbach, Birgit Assmus, Fabian Knebel, Stefan Gingele, Aliaksandr Skrahin, Jörg Hartkamp, Toni M. Förster, Sabine Roesner, Catarina Pereira & Arndt Rolfs. (2021) Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology. Annals of Medicine 53:1, pages 1787-1796.
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Ola Akinboboye, Keyur Shah, Alberta L. Warner, Thibaud Damy, Herman A. Taylor, Jared Gollob, Christine Powell, Verena Karsten, John Vest & Mathew S. Maurer. (2020) DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis. Amyloid 27:4, pages 223-230.
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Andrew Staron, Lawreen H. Connors, Frederick L. Ruberg, Lisa M. Mendelson & Vaishali Sanchorawala. (2019) A new era of amyloidosis: the trends at a major US referral centre. Amyloid 26:4, pages 192-196.
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Marios Arvanitis, Gloria G. Chan, Daniel R. Jacobson, John L. Berk, Lawreen H. Connors & Frederick L. Ruberg. (2017) Prevalence of mutant ATTR cardiac amyloidosis in elderly African Americans with heart failure. Amyloid 24:4, pages 253-255.
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Emily E. Brown, Yi Zhen Joan Lee, Marc K. Halushka, Charles Steenbergen, Nicole M. Johnson, Johana Almansa, Ryan J. Tedford, Oscar Cingolani, Stuart D. Russell, Kavita Sharma & Daniel P. Judge. (2017) Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis. Amyloid 24:2, pages 92-95.
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