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
Prevalence, Cardiac Phenotype, and Outcomes of Transthyretin Variants in the UK Biobank Population.
Aung N et al.
Jama Cardiology, 2024
Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review.
Aldinc E et al.
Bmc Musculoskeletal Disorders, 2023
Does [99mTc]-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) soft tissue uptake allow the identification of patients with the diagnosis of cardiac transthyretin-related (ATTR) amyloidosis with higher risk for polyneuropathy?
Wollenweber T et al.
Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology, 2023
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.
Auer-Grumbach M et al.
Journal of Clinical Medicine, 2020
Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy.
Lopes LR et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019
Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.
Lahuerta Pueyo C et al.
European Journal of Human Genetics : Ejhg, 2019
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