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Amyloid
The Journal of Protein Folding Disorders
Volume 21, 2014 - Issue 4
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Research Article

The “Wagshurst study”: p.Val40Ile transthyretin gene variant causes late-onset cardiomyopathy

Ralf BauerDepartment of Cardiology, Angiology, and Respiratory Medicine, University Hospital Heidelberg HeidelbergGermanyCorrespondence[email protected]
,
Nicola DikowInstitute of Human Genetics, Heidelberg University HeidelbergGermany
,
Andreas BrauerDepartment of Cardiology, Angiology, and Respiratory Medicine, University Hospital Heidelberg HeidelbergGermany
,
Michael KreuterPneumology and Respiratory Critical Medicine, Thoraxklinik, University of Heidelberg and Translational Lung Research Center Heidelberg HeidelbergGermany
,
Sebastian BussDepartment of Cardiology, Angiology, and Respiratory Medicine, University Hospital Heidelberg HeidelbergGermany
,
Christina EversInstitute of Human Genetics, Heidelberg University HeidelbergGermany
,
Christoph RöckenInstitute of Pathology, University Hospital Schleswig Holstein KielGermany, and
,
Philipp A. SchnabelInstitute of Pathology, University Hospital Heidelberg HeidelbergGermany
,
Katrin HinderhoferInstitute of Human Genetics, Heidelberg University HeidelbergGermany
,
Philipp EhlermannDepartment of Cardiology, Angiology, and Respiratory Medicine, University Hospital Heidelberg HeidelbergGermany
,
Hugo A. KatusDepartment of Cardiology, Angiology, and Respiratory Medicine, University Hospital Heidelberg HeidelbergGermany
&
Arnt V. KristenDepartment of Cardiology, Angiology, and Respiratory Medicine, University Hospital Heidelberg HeidelbergGermany
 show all
Pages 267-275 | Received 29 Apr 2014, Accepted 17 Sep 2014, Published online: 07 Oct 2014

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Katrin Hinderhofer, Christian Obermaier, Ute Hegenbart, Stefan Schönland, Marc Seidler, Iris Sommer-Ort & Ulrike Barth. (2019) New sequence variants in patients affected by amyloidosis show transthyretin instability by isoelectric focusing. Amyloid 26:2, pages 85-93.
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Articles from other publishers (9)

Maria Ungericht, Julia Wanschitz, Alexander S. Kroiss, Christoph Röcken, Thomas Schuetz, Moritz Messner, Marc-Michael Zaruba, Wolfgang N. Loescher & Gerhard Poelzl. (2022) Amyloid myopathy: expanding the clinical spectrum of transthyretin amyloidosis—case report and literature review. Journal of Nuclear Cardiology 30:4, pages 1420-1426.
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Michelle M. Kittleson, Frederick L. Ruberg, Amrut V. Ambardekar, Thomas H. Brannagan, Richard K. Cheng, John O. Clarke, Laura M. Dember, Janell Grazzini Frantz, Ray E. Hershberger, Mathew S. Maurer, Jose Nativi-Nicolau, Vaishali Sanchorawala & Farooq H. Sheikh. (2023) 2023 ACC Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient With Cardiac Amyloidosis. Journal of the American College of Cardiology 81:11, pages 1076-1126.
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Alexios S. Antonopoulos, Ioannis Panagiotopoulos, Alexandrina Kouroutzoglou, Georgios Koutsis, Pantelis Toskas, Georgios Lazaros, Konstantinos Toutouzas, Dimitris Tousoulis, Konstantinos Tsioufis & Charalambos Vlachopoulos. (2022) Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta‐analysis. European Journal of Heart Failure 24:9, pages 1677-1696.
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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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Fabian aus dem Siepen, Selina Hein, Sofie Prestel, Christian Baumgärtner, Stefan Schönland, Ute Hegenbart, Christoph Röcken, Hugo A. Katus & Arnt V. Kristen. (2019) Carpal tunnel syndrome and spinal canal stenosis: harbingers of transthyretin amyloid cardiomyopathy?. Clinical Research in Cardiology 108:12, pages 1324-1330.
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Jessica R. Golbus, Joanna M. Wells, Michael G. Dickinson & Scott L. Hummel. (2018) Importance of Genetic Testing in the Diagnosis of Transthyretin Cardiac Amyloidosis. The American Journal of Medicine 131:7, pages e303-e304.
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Francesco Cappelli, Chiara Gallini, Egidio Natalino Costanzo, Francesca Tutino, Alfonso Ciaccio, Luca Vaggelli, Simone Bartolini, Sofia Morini, Raffaele Martone, Paola Angelotti, Sabrina Frusconi, Carlo Di Mario & Federico Perfetto. (2018) Lung uptake during 99mTc- hydroxymethylene diphosphonate scintigraphy in patient with TTR cardiac amyloidosis: An underestimated phenomenon. International Journal of Cardiology 254, pages 346-350.
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Sebastiaan H.C. Klaassen, Henny H. Lemmink, Johan Bijzet, Andor W.J.M. Glaudemans, Reinhard Bos, Wouter Plattel, Maarten P. van den Berg, Riemer H.J.A. Slart, Hans L.A. Nienhuis, Dirk J. van Veldhuisen & Bouke P.C. Hazenberg. (2017) Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G). Cardiovascular Pathology 29, pages 19-22.
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Mathew S. Maurer. (2015) Noninvasive Identification of ATTRwt Cardiac Amyloid: The Re-emergence of Nuclear Cardiology. The American Journal of Medicine 128:12, pages 1275-1280.
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