Literature DB >> 22580845

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

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

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 22580845     DOI： 10.1007/s00415-012-6529-z

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  8 in total

1.  Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: patients can have both monoclonal gammopathies and hereditary amyloid proteins.

Authors:  Raymond L Comenzo; Ping Zhou; Martin Fleisher; Bradly Clark; Julie Teruya-Feldstein
Journal:  Blood       Date:  2006-01-26       Impact factor: 22.113

Review 2.  Transthyretin-related amyloidoses and the heart: a clinical overview.

Authors:  Claudio Rapezzi; Candida Cristina Quarta; Letizia Riva; Simone Longhi; Ilaria Gallelli; Massimiliano Lorenzini; Paolo Ciliberti; Elena Biagini; Fabrizio Salvi; Angelo Branzi
Journal:  Nat Rev Cardiol       Date:  2010-05-18       Impact factor: 32.419

Review 3.  Amyloidosis: pathogenesis and new therapeutic options.

Authors:  Giampaolo Merlini; David C Seldin; Morie A Gertz
Journal:  J Clin Oncol       Date:  2011-04-11       Impact factor: 44.544

4.  Mass spectrometric-based proteomic analysis of amyloid neuropathy type in nerve tissue.

Authors:  Christopher J Klein; Julie A Vrana; Jason D Theis; Peter J Dyck; P James B Dyck; Robert J Spinner; Michelle L Mauermann; H Robert Bergen; Steven R Zeldenrust; Ahmet Dogan
Journal:  Arch Neurol       Date:  2010-10-11

5.  Electron and immuno-electron microscopy of abdominal fat identifies and characterizes amyloid fibrils in suspected cardiac amyloidosis.

Authors:  Eloisa Arbustini; Laura Verga; Monica Concardi; Giovanni Palladini; Laura Obici; Giampaolo Merlini
Journal:  Amyloid       Date:  2002-06       Impact factor: 7.141

6.  Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

Authors:  Helen J Lachmann; David R Booth; Susanne E Booth; Alison Bybee; Janet A Gilbertson; Julian D Gillmore; Mark B Pepys; Philip N Hawkins
Journal:  N Engl J Med       Date:  2002-06-06       Impact factor: 91.245

Review 7.  The molecular biology and clinical features of amyloid neuropathy.

Authors:  Merrill D Benson; John C Kincaid
Journal:  Muscle Nerve       Date:  2007-10       Impact factor: 3.217

8.  Novel transthyretin amyloid fibril formation inhibitors: synthesis, biological evaluation, and X-ray structural analysis.

Authors:  Satheesh K Palaninathan; Nilofar N Mohamedmohaideen; Elisabetta Orlandini; Gabriella Ortore; Susanna Nencetti; Annalina Lapucci; Armando Rossello; Joel S Freundlich; James C Sacchettini
Journal:  PLoS One       Date:  2009-07-21       Impact factor: 3.240
  8 in total
  6 in total

Review 1.  Inherited neuropathies: an update.

Authors:  Anna Sagnelli; Giuseppe Piscosquito; Davide Pareyson
Journal:  J Neurol       Date:  2013-09-24       Impact factor: 4.849

Review 2.  Peripheral Nervous System Involvement in Lymphoproliferative Disorders.

Authors:  Mario Sabatelli; Luca Laurenti; Marco Luigetti
Journal:  Mediterr J Hematol Infect Dis       Date:  2018-09-01       Impact factor: 2.576

Review 3.  "Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.

Authors:  Isabel Conceição; Alejandra González-Duarte; Laura Obici; Hartmut H-J Schmidt; Damien Simoneau; Moh-Lim Ong; Leslie Amass
Journal:  J Peripher Nerv Syst       Date:  2016-03       Impact factor: 3.494

Review 4.  Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.

Authors:  Yoshiki Sekijima; Mitsuharu Ueda; Haruki Koike; Sonoko Misawa; Tomonori Ishii; Yukio Ando
Journal:  Orphanet J Rare Dis       Date:  2018-01-17       Impact factor: 4.123

5.  Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".

Authors:  Marina Grandis; Alessandro Geroldi; Rossella Gulli; Fiore Manganelli; Fabio Gotta; Merit Lamp; Paola Origone; Lucia Trevisan; Chiara Gemelli; Sabrina Fabbri; Angelo Schenone; Stefano Tozza; Lucio Santoro; Emilia Bellone; Paola Mandich
Journal:  Orphanet J Rare Dis       Date:  2018-10-04       Impact factor: 4.123

6.  Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

Authors:  Zuzana Chyra Kufova; Tereza Sevcikova; Jaroslav Januska; Petr Vojta; Arpad Boday; Pavla Vanickova; Jana Filipova; Katerina Growkova; Tomas Jelinek; Marian Hajduch; Roman Hajek
Journal:  J Clin Pathol       Date:  2018-02-17       Impact factor: 3.411
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.