Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients
Author:
Affiliation:
1. Department of Neurosciences and Mental Health, Neurology; Hospital de Santa Maria-CHLN; Lisbon Portugal
2. Faculty of Medicine; Institute of Physiology, Instituto de Medicina Molecular; University of Lisbon; Lisbon Portugal
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ene.13724/fullpdf
Reference42 articles.
1. Familial amyloid polyneuropathy;Planté-Bordeneuve;Lancet Neurol,2011
2. Rate of progression of transthyretin amyloidosis;Benson;Am J Cardiol,2011
3. Guideline of transthyretin-related hereditary amyloidosis for clinicians;Ando;Orphanet J Rare Dis,2013
4. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy;Conceição;J Peripher Nerv Syst,2016
5. Tabulation of human transthyretin (TTR) variants, 2003;Connors;Amyloid,2003
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2. Genetic screening for transthyretin familial amyloid polyneuropathy to avoid misdiagnosis in patients with polyneuropathy associated with high protein in the cerebrospinal fluid;Acta Neurologica Belgica;2023-02-25
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4. Changes in nerve conduction studies predate clinical symptoms onset in early onset Val30Met hereditary ATTR amyloidosis;European Journal of Neurology;2021-11-17
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