Endorsed Projects

Endorsed projects

  • Ala140Ser, report of a case of a very rare mutation of TTR and review of the literature
  • Worldwide prevalence and clinical phenotypes of ATTR related to three endemic mutations in Sicily (Glu89Gln, Thr49Ala,Phe64Leu): THAOS data
  • Latin America THAOS patients: Demographical, clinical and genetic aspects, an overview
  • Differences in transthyretin amyloidosis between the United States and the rest of the world: A report from the transthyretin amyloid outcome survey (THAOS)
  • Effects of ATTR cardiomyopathy on progression of renal disease
  • Familial amyloid polyneuropathy: Health-related quality of life
  • Analysis of the clinical course of patients with Val30Met TTR familial amyloid polyneuropathy (FAP) included in THAOS treated with tafamidis and liver transplantation compared to the natural evolution of the disease
  • Myocardial contraction fraction: A volumetric index for predicting mortality in transthyretin cardiac amyloidosis
  • Clinical and cardiac disease profiles of hereditary and wild-type transthyretin amyloidosis in Europe
  • Single-center analysis of Brazilian patients in THAOS
  • An analysis of the prevalence, diagnostic value and impact on quality of life of the autonomic dysfunction in TTR-FAP patients
  • Prevalence of sinus node dysfunction, conduction system disease and atrial arrhythmias in ATTR cardiac amyloidosis
  • To describe the red flags by mutation type for the 10 most frequent non-V30M mutations in THAOS and to compare them with V30M

Project Proposal Endorsed since November 2017


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