Ando Y, Adams D, Benson MD et al (2022) Guidelines and new directions in the therapy and monitoring of ATTRv amyloidosis. Amyloid 29:143–155

Article  CAS  PubMed  Google Scholar 

Ruberg FL, Berk JL (2012) Transthyretin (TTR) cardiac amyloidosis. Circulation 126:1286–1300

Article  PubMed  PubMed Central  Google Scholar 

Coelho T, Maia LF, da Silva AM et al (2013) Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. J Neurol 260:2802–2814

Article  CAS  PubMed  PubMed Central  Google Scholar 

Adams D, Gonzalez-Duarte A, O’Riordan WD et al (2018) Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med 379:11–21

Article  CAS  PubMed  Google Scholar 

Adams D, Polydefkis M, González-Duarte A et al (2021) Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Lancet Neurol 20:49–59

Article  CAS  PubMed  Google Scholar 

Adams D, Tournev IL, Taylor MS et al (2023) Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial. Amyloid 30:1–9

Article  PubMed  Google Scholar 

Benson MD, Waddington-Cruz M, Berk JL et al (2018) Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med 379:22–31

Article  CAS  PubMed  Google Scholar 

Holmgren G, Steen L, Ekstedt J et al (1991) Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet 40:242–246

Article  CAS  PubMed  Google Scholar 

Nakazato M, Kangawa K, Kurihara T, Matsukura S, Matsuo H (1987) Variant transthyretin in cerebrospinal fluid in familial amyloidotic polyneuropathy. J Neurol Sci 79:111–116

Article  CAS  PubMed  Google Scholar 

Coelho T, Adams D, Silva A et al (2013) Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med 369:819–829

Article  CAS  PubMed  Google Scholar 

Suhr OB, Coelho T, Buades J et al (2015) Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study. Orphanet J Rare Dis 10:109

Article  PubMed  PubMed Central  Google Scholar 

Solomon SD, Adams D, Kristen A et al (2019) Effects of Patisiran, an RNA interference therapeutic, on cardiac parameters in patients with hereditary transthyretin-mediated amyloidosis. Circulation 139:431–443

Article  CAS  PubMed  Google Scholar 

Murakami T, Yokoyama T, Mizuguchi M et al (2021) A low amyloidogenic E61K transthyretin mutation may cause familial amyloid polyneuropathy. J Neurochem 156:957–966

Article  CAS  PubMed  Google Scholar 

Tachibana N, Tokuda T, Yoshida K et al (1999) Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid 6:282–288

Article  CAS  PubMed  Google Scholar 

Dohrn MF, Medina J, Olaciregui Dague KR, Hund E (2021) Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis. Neurol Res Pract 3:57

Article  PubMed  PubMed Central  Google Scholar