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Amyloid
The Journal of Protein Folding Disorders
Volume 19, 2012 - Issue 4
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Original Article

Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation

Alejandra González-DuarteDepartment of NeurologyCorrespondence[email protected]
,
Karla Cárdenas SotoDepartment of Neurology
,
Deborah Martínez-BañosDepartment of Hematology
,
Jazmin Arteaga-VazquezDepartment of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga 15 Seccion XVI Tlalplan, C.P. 14000 Mexico D.F.
,
Fausto BarreraDepartment of Cardiology
,
Mauricio Berenguer-SanchezDepartment of Neurophysiology
,
Carlos Cantu-BritoDepartment of Neurology
,
Guillermo García-RamosDepartment of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga 15 Seccion XVI Tlalplan, C.P. 14000 Mexico D.F.
&
Bruno Estañol VidalDepartment of Neurophysiology
 show all
Pages 171-176 | Received 29 Feb 2012, Accepted 13 Jul 2012, Published online: 28 Aug 2012

Citations (12)

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Read on this site (4)

Marco Luigetti, Angela Romano, Andrea Di Paolantonio, Giulia Bisogni & Mario Sabatelli. (2020) Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care. Therapeutics and Clinical Risk Management 16, pages 109-123.
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Sari Atula, Tuuli Nikoskinen, Aleksi Saastamoinen, Daniel Strbian, Eeva-Kaisa Schmidt & Sari Kiuru-Enari. (2016) Gender differences in the clinical course of Finnish gelsolin amyloidosis. Amyloid 23:1, pages 33-38.
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João Melo Beirão, Jorge Malheiro, Carolina Lemos, Idalina Beirão, Paulo Costa & Paulo Torres. (2015) Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases. Amyloid 22:2, pages 117-122.
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Alejandra González-Duarte, Mónica Lem-Carrillo & Karla Cárdenas-Soto. (2013) Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. Amyloid 20:4, pages 221-225.
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Articles from other publishers (8)

S. S. Nikitin, S. N. Bardakov, N. A. Suponeva, I. V. Zhirov, T. A. Adyan, D. A. Grishina & R. V. Deev. (2021) Phenotypic heterogeneity and diagnostic features of transthyretin amyloidosis with polyneuropathy. Neuromuscular Diseases 11:3, pages 12-36.
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Kevin M. Alexander, Matthew S. Maurer & Icilma V. Fergus. 2021. Cardiovascular Disease in Racial and Ethnic Minority Populations. Cardiovascular Disease in Racial and Ethnic Minority Populations 201 215 .
Alejandra González‐Duarte, Isabel Conceição, Leslie Amass, Marc F. Botteman, John A. Carter & Michelle Stewart. (2020) Impact of Non-Cardiac Clinicopathologic Characteristics on Survival in Transthyretin Amyloid Polyneuropathy. Neurology and Therapy 9:1, pages 135-149.
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Saša A Živković. (2020) Neuropathy Associated with Hereditary Transthyretin Amyloidosis—Diagnosis and Management. US Neurology 16:2, pages 103.
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David Adams, Haruki Koike, Michel Slama & Teresa Coelho. (2019) Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nature Reviews Neurology 15:7, pages 387-404.
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Alejandra González-Duarte, Karla Cárdenas-Soto, Carlo Enrico Bañuelos, Omar Fueyo, Carolina Dominguez, Benjamín Torres & Carlos Cantú-Brito. (2018) Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases. Orphanet Journal of Rare Diseases 13:1.
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Masaaki Matsushima, Ichiro Yabe, Masaya Tsuda, Mamoru Sakakibara, Tsuyoshi Shimamura & Hidenao Sasaki. (2017) Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a <i>Transthyretin</i> Ser50Arg Mutation. Internal Medicine 56:23, pages 3231-3235.
Crossref
David Adams, Marie Théaudin, Cecile Cauquil, Vincent Algalarrondo & Michel Slama. (2014) FAP Neuropathy and Emerging Treatments. Current Neurology and Neuroscience Reports 14:3.
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