Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis.

作者信息

Briani Chiara, Cavallaro Tiziana, Ferrari Sergio, Taioli Federica, Calamelli Sara, Verga Laura, Adami Fausto, Fabrizi Gian Maria

出版信息

J Neurol. 2012 Oct;259(10):2226-8. doi: 10.1007/s00415-012-6529-z. Epub 2012 May 12.

DOI:10.1007/s00415-012-6529-z

PMID:22580845

Abstract

摘要

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Amyloidosis: pathogenesis and new therapeutic options.淀粉样变性：发病机制和新的治疗选择。

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Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissue.基于质谱的神经组织中淀粉样变性神经病类型的蛋白质组学分析。

Arch Neurol. 2011 Feb;68(2):195-9. doi: 10.1001/archneurol.2010.261. Epub 2010 Oct 11.

Transthyretin-related amyloidoses and the heart: a clinical overview.转甲状腺素相关淀粉样变性病与心脏：临床概述。

Nat Rev Cardiol. 2010 Jul;7(7):398-408. doi: 10.1038/nrcardio.2010.67. Epub 2010 May 18.

Novel transthyretin amyloid fibril formation inhibitors: synthesis, biological evaluation, and X-ray structural analysis.新型转甲状腺素蛋白淀粉样原纤维形成抑制剂：合成、生物学评价及X射线结构分析

PLoS One. 2009 Jul 21;4(7):e6290. doi: 10.1371/journal.pone.0006290.

The molecular biology and clinical features of amyloid neuropathy.淀粉样变神经病的分子生物学与临床特征

Muscle Nerve. 2007 Oct;36(4):411-23. doi: 10.1002/mus.20821.

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