Associated Papers
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.
Dinatolo F et al.
Genes, 2025
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
Portuguese recommendations for the management of transthyretin amyloid cardiomyopathy (Part 1 of 2): Screening, diagnosis and treatment. Developed by the Task Force on the management of transthyretin amyloid cardiomyopathy of the Working Group on Myocardial and Pericardial Diseases of the Portuguese Society of Cardiology.
Marques N et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 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
Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.
Žebrauskienė D et al.
Medicina (kaunas, Lithuania), 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
[A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report].
Chumakova OS et al.
Terapevticheskii Arkhiv, 2023
Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.
Chumakova OS et al.
Frontiers in Cardiovascular Medicine, 2023
World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).
Brito D et al.
Global Heart, 2023
A natural history analysis of asymptomatic TTR gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Coelho T et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
Characteristics of patients with autonomic dysfunction in the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Barroso FA et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
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
Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.
Skrahina V et al.
Annals of Medicine, 2021
Management of transthyretin amyloidosis.
Condoluci A et al.
Swiss Medical Weekly, 2021
Temporal Trends of Wild-Type Transthyretin Amyloid Cardiomyopathy in the Transthyretin Amyloidosis Outcomes Survey.
Nativi-Nicolau J et al.
Jacc. Cardiooncology, 2021
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.
Abouelhoda M et al.
Human Genomics, 2021
Regression of cardiac amyloid load documented by cardiovascular magnetic resonance in a patient with hereditary amyloidosis.
Florian A et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 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
Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis.
Gertz MA et al.
Journal of the American College of Cardiology, 2015
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Sekijima Y
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.
Jang MA et al.
Annals of Human Genetics, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Acquired initiating mutations in early hematopoietic cells of CLL patients.
Damm F et al.
Cancer Discovery, 2014
THAOS - The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis.
Coelho T et al.
Current Medical Research and Opinion, 2013
Thermodynamic stability and denaturation kinetics of a benign natural transthyretin mutant identified in a Danish kindred.
Groenning M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2011