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
Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.
Rösner S et al.
Journal of Clinical Medicine, 2024
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
Corneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis.
Thimm A et al.
Journal of Neurology, 2023
2023 Expert Consensus of the Taiwan Society of Cardiology on the Diagnosis and Treatment of Cardiac Amyloidosis.
Wang CC et al.
Acta Cardiologica Sinica, 2023
A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report.
Thimm A et al.
Bmc Neurology, 2022
Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.
Patel JK et al.
Neurology and Therapy, 2022
A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J et al.
Neurology and Therapy, 2021
Clinical profile and outcome of cardiac amyloidosis in a Spanish referral center.
López-Sainz Á et al.
Revista Espanola De Cardiologia (english Ed.), 2021
Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan.
Chao HC et al.
Annals of Clinical and Translational Neurology, 2019
Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G).
Klaassen SHC et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0
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