Associated Papers
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
Variant cardiac transthyretin amyloidosis presenting as hypertrophic cardiomyopathy with left ventricular outflow tract obstruction: a case report.
Höller V et al.
European Heart Journal. Case Reports, 2025
His108Arg Transthyretin Amyloidosis-Shedding Light on a Distinctively Malignant Variant.
Binder C et al.
Journal of Clinical Medicine, 2024
39768780 (PubMed )
Supplement: jcm-13-07857-s001.zip › jcm-3382088-supplementary.pdf
Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.
Chiaro G et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 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
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
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.
Rowczenio D et al.
Human Mutation, 2019
Oculoleptomeningeal Amyloidosis Secondary to the Rare Transthyretin c.381T>G (p.Ile127Met) Mutation.
Mathieu F et al.
World Neurosurgery, 2018
Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.
Lu YY et al.
Chinese Medical Journal, 2017
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
28335735 (PubMed )
Supplement: 12864_2017_3646_MOESM1_ESM.pdf
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.
Rowczenio DM et al.
Human Mutation, 2014
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