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
Early Detection of Transthyretin Cardiac Amyloidosis Using 124I-Evuzamitide Positron Emission Tomography/Computed Tomography.
Smiley DA et al.
Jacc. Cardiovascular Imaging, 2025
Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis.
Holcman K et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2025
Transthyretin-related amyloid cardiomyopathy: A single-center experience in southern Poland, an endemic area.
Holcman K et al.
Kardiologia Polska, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
39575713 (PubMed )
Supplement: JAH3-13-e033770-s001.pdf
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
The landscape of tolerated genetic variation in humans and primates.
Gao H et al.
Biorxiv : the Preprint Server for Biology, 2023
37205491 (PubMed )
Supplement: media-2.xlsx › Sheet1
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.
Chyra Kufova Z et al.
Journal of Clinical Pathology, 2018
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