Associated Papers
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.
Singh A et al.
Journal of Clinical Medicine, 2025
41095902 (PubMed )
Supplement: jcm-14-06821-s001.zip › jcm-3769433-supplementary.pdf
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
40998828 (PubMed )
Supplement: 41540_2025_582_MOESM1_ESM.pdf
A computational approach to predict the effects of missense mutations on protein amyloidogenicity: A case study in hereditary transthyretin cardiomyopathy.
Pyankov IA et al.
Journal of Structural Biology, 2025
Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J et al.
Cardiology and Therapy, 2024
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Gentile L et al.
Orphanet Journal of Rare Diseases, 2023
37946256 (PubMed )
Supplement: 13023_2023_2962_MOESM1_ESM.docx
A rare pathogenic variant identified in a heart transplant recipient with hereditary transthyretin amyloidosis: a case report.
Kim MS et al.
Journal of Yeungnam Medical Science, 2023
Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement.
Micaglio E et al.
Frontiers in Cardiovascular Medicine, 2023
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.
Dispenzieri A et al.
Orphanet Journal of Rare Diseases, 2022
35717381 (PubMed )
Supplement: 13023_2022_2359_MOESM1_ESM.docx
A rare variant of transthyretin-related amyloidosis associated with exclusive cardiomyopathy in a Hong Kong Chinese patient.
Wong CW et al.
Journal of Cardiology Cases, 2018
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