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Amyloid
The Journal of Protein Folding Disorders
Volume 19, 2012 - Issue sup1: VIIIth International Symposium of Familial Amyloidotic Polyneuropathy and VIIth International Workshop on Liver Transplantation in Familial Amyloidotic Polyneuropathy
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Research Articles

Clinical features of TTR-FAP in Portugal

Isabel Conceição;Department of Neurosciences, Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, Lisbon, PortugalCorrespondence[email protected]
Pages 71-72 | Received 29 Jan 2012, Accepted 04 Mar 2012, Published online: 06 Apr 2012

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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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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 (12)

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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Antonella De Lillo, Gita A. Pathak, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Federico Perfetto, Sabrina Frusconi, Dario Manfellotto, Maria Fuciarelli & Renato Polimanti. (2020) Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis. Clinical Epigenetics 12:1.
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Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Sabrina Frusconi, Dario Manfellotto, Maria Fuciarelli & Renato Polimanti. (2019) Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses. Human Genetics 138:11-12, pages 1331-1340.
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Zhenhua Yuan, Lina Guo, Xixi Liu, Xuewen Xiao, Bin Jiao, Junling Wang, Xinxiang Yan, Beisha Tang & Lu Shen. (2019) Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with a proven heterozygous missense mutation c.349G>T in the transthyretin gene. Journal of Clinical Neuroscience 60, pages 164-166.
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Qian Chen, Lamei Yuan, Xiong Deng, Zhijian Yang, Shengwang Zhang, Sheng Deng, Hongwei Lu & Hao Deng. (2017) A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy. Molecular Neurobiology 55:6, pages 4911-4917.
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Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Teresa Coelho, Jorge Sequeiros & Paula Freitas. (2017) Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study. Journal of Community Genetics 9:1, pages 93-99.
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Andrea Iorio, Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Luca Pradotto, Alessandro Mauro, Anna Mazzeo, Claudia Stancanelli, Federico Perfetto, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli & Renato Polimanti. (2017) Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. European Journal of Human Genetics 25:9, pages 1055-1060.
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Pradeep Venkatesh, Harathy Selvan, Sundararajan Baskar Singh, Divya Gupta, Seema Kashyap, Shreyas Temkar, Varun Gogia, Koushik Tripathy, Rohan Chawla & Rajpal Vohra. (2017) Vitreous Amyloidosis. Ophthalmology 124:7, pages 1014-1022.
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Álvaro Mendes, Liliana Sousa, Jorge Sequeiros & Angus Clarke. (2017) Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal. Social Science & Medicine 182, pages 73-80.
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D.B. Zhen, P.L. Swiecicki, S.R. Zeldenrust, A. Dispenzieri, M.L. Mauermann & M.A. Gertz. (2015) Frequencies and geographic distributions of genetic mutations in transthyretin- and non-transthyretin-related familial amyloidosis. Clinical Genetics 88:4, pages 396-400.
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A. C. Martins, A. M. Rosa, E. Costa, C. Tavares, M. J. Quadrado & J. N. Murta. (2015) Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review. BioMed Research International 2015, pages 1-9.
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Maria C. Azevedo CoutinhoNuno Cortez-DiasGuilhermina CantinhoIsabel ConceiçãoAntónio OliveiraArmando Bordalo e SáSusana GonçalvesAna G. AlmeidaMamede de CarvalhoAntónio Nunes Diogo. (2013) Reduced Myocardial 123-Iodine Metaiodobenzylguanidine Uptake. Circulation: Cardiovascular Imaging 6:5, pages 627-636.
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