Associated Papers
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.
Domínguez-Martínez M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
Human-Induced Pluripotent Stem Cell Models for Amyloid Cardiomyopathy: From Mechanistic Insights to Therapeutic Discovery.
Liu Y et al.
Journal of Cardiovascular Development and Disease, 2025
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.
Singh A et al.
Journal of Clinical Medicine, 2025
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 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
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Transthyretin mutagenesis: impact on amyloidogenesis and disease.
Almeida ZL et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study.
Galán Dávila L et al.
Orphanet Journal of Rare Diseases, 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
Clinical, radiologic, and pathologic features and outcomes of pulmonary transthyretin amyloidosis.
Eggleston RH et al.
Respiratory Medicine, 2022
Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.
Wang S et al.
Frontiers in Cardiovascular Medicine, 2022
A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J et al.
Neurology and Therapy, 2021
Pathogenic D76N Variant of β2-Microglobulin: Synergy of Diverse Effects in Both the Native and Amyloid States.
Bulyáki É et al.
Biology, 2021
Establishment of an induced pluripotent stem cell line PUMCHi004-A from a hereditary transthyretin amyloid cardiomyopathy patient with transthyretin (TTR) p.Asp38Asn mutation.
He S et al.
Stem Cell Research, 2020
Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China.
Liu L et al.
Chinese Medical Journal, 2020
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Data-independent acquisition mass spectrometry reveals comprehensive plasma protein profiles in the natural history of patients with hereditary transthyretin amyloidosis (ATTRv).
He S et al.
Expert Review of Proteomics, 0