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Amyloid
The Journal of Protein Folding Disorders
Volume 13, 2006 - Issue 3
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Original

Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: Towards tailoring of therapeutic strategies?

Claudio Rapezzi Institute of Cardiology, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, ItalyCorrespondence[email protected]
,
Enrica Perugini Institute of Cardiology, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy
,
Fabrizio Salvi Department of Neurology, Bellaria Hospital, Bologna, Bologna, Italy
,
Francesco Grigioni Institute of Cardiology, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy
,
Letizia Riva Institute of Cardiology, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy
,
Robin M. T. Cooke Institute of Cardiology, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy
,
Alessandra Ferlini Department of Diagnostic and Experimental Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
,
Paola Rimessi Department of Diagnostic and Experimental Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
,
Letizia Bacchi-Reggiani Institute of Cardiology, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy
,
Paolo Ciliberti Institute of Cardiology, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy
,
Francesca Pastorelli Department of Neurology, Bellaria Hospital, Bologna, Bologna, Italy
,
Ornella Leone Department of Pathology, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy
,
Ilaria Bartolomei Department of Neurology, Bellaria Hospital, Bologna, Bologna, Italy
,
Antonio D. Pinna Liver and Multiorgan Transplant Center, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy
,
Giorgio Arpesella Department of Cardiovascular Surgery, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy
&
Angelo Branzi Institute of Cardiology, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy
 show all
Pages 143-153 | Published online: 06 Jul 2009

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Andrey Kirov, Stayko Sarafov, Zornitza Pavlova, Tihomir Todorov, Teodora Chamova, Mariana Gospodinova, Ivailo Tournev, Vanyo Mitev & Albena Todorova. (2019) Founder effect of the Glu89Gln TTR mutation in the Bulgarian population. Amyloid 26:4, pages 181-185.
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Thibaud Damy, Arnaud Jaccard, Aziz Guellich, David Lavergne, Arnault Galat, Jean-François Deux, Luc Hittinger, Jehan Dupuis, Valérie Frenkel, Charlotte Rigaud, Violaine Plante-Bordeneuve, Diane Bodez & Dania Mohty. (2016) Identification of prognostic markers in transthyretin and AL cardiac amyloidosis*. Amyloid 23:3, pages 194-202.
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Philip N. Hawkins, Yukio Ando, Angela Dispenzeri, Alejandra Gonzalez-Duarte, David Adams & Ole B. Suhr. (2015) Evolving landscape in the management of transthyretin amyloidosis. Annals of Medicine 47:8, pages 625-638.
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Andrea Iorio, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Luca Pradotto, Alessandro Mauro, Dario Manfellotto, Maria Fuciarelli & Renato Polimanti. (2015) Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation. Amyloid 22:2, pages 73-78.
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Andor W. J. M. Glaudemans, Ronald W. J. van Rheenen, Maarten P. van den Berg, Walter Noordzij, Michel Koole, Hans Blokzijl, Rudi A. J. O. Dierckx, Riemer H. J. A. Slart & Bouke P. C. Hazenberg. (2014) Bone scintigraphy with 99mtechnetium-hydroxymethylene diphosphonate allows early diagnosis of cardiac involvement in patients with transthyretin-derived systemic amyloidosis. Amyloid 21:1, pages 35-44.
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Adelaide M. Arruda-Olson, Steven R. Zeldenrust, Angela Dispenzieri, Morie A. Gertz, Fletcher A. Miller, Suzette J. Bielinski, Kyle W. Klarich, Christopher G. Scott & Martha Grogan. (2013) Genotype, echocardiography, and survival in familial transthyretin amyloidosis. Amyloid 20:4, pages 263-268.
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Elisabet Ihse, Claudio Rapezzi, Giampaolo Merlini, Merrill D. Benson, Yukio Ando, Ole B. Suhr, Shu-ichi Ikeda, Francesca Lavatelli, Laura Obici, Candida C. Quarta, Ornella Leone, Hirofumi Jono, Mitsuharu Ueda, Massimiliano Lorenzini, Juris Liepnieks, Toshinori Ohshima, Masayoshi Tasaki, Taro Yamashita & Per Westermark. (2013) Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis. Amyloid 20:3, pages 142-150.
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Teresa Coelho, Mathew S. Maurer & Ole B. Suhr. (2013) THAOS – The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Current Medical Research and Opinion 29:1, pages 63-76.
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Fabrizio Salvi, Francesca Pastorelli, Rosaria Plasmati, Illaria Bartolomei, Daniela Dall’Osso & Claudio Rapezzi. (2012) Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis. Amyloid 19:sup1, pages 58-60.
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Claudio Rapezzi, Simone Longhi, Agnese Milandri, Massimiliano Lorenzini, Christian Gagliardi, Ilaria Gallelli, Ornella Leone & Candida Cristina Quarta. (2012) Cardiac involvement in hereditary-transthyretin related amyloidosis. Amyloid 19:sup1, pages 16-21.
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Yuichi Noto, Takahiko Tokuda, Kensuke Shiga, Akiko Tsuchiya, Masahide Yazaki, Satoaki Matoba & Masanori Nakagawa. (2009) Cardiomyopathy in a Japanese family with the Glu61Lys transthyretin variant: a new phenotype. Amyloid 16:2, pages 99-102.
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Claudio Rapezzi, Letizia Riva, Cristina C. Quarta, Enrica Perugini, Fabrizio Salvi, Simone Longhi, Paolo Ciliberti, Francesca Pastorelli, Elena Biagini, Ornella Leone, Robin M. T. Cooke, Letizia Bacchi-Reggiani, Alessandra Ferlini, Michele Cavo, Giampaolo Merlini, Stefano Perlini, Sonia Pasquali & Angelo Branzi. (2008) Gender-related risk of myocardial involvement in systemic amyloidosis. Amyloid 15:1, pages 40-48.
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