Associated Papers
Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil.
Maximiano-Alves G et al.
Journal of the Peripheral Nervous System : Jpns, 2026
Precision medicine with pioneering RNAi therapeutics in ATTR amyloidosis: from bench to bedside.
Malinverni S et al.
European Journal of Internal Medicine, 2026
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Oxidative conversion of transthyretin in formalin-fixed clinical amyloid samples results in the formation of the His90Asp and His90Asn variants.
Raheja S et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
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
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.
Gospodinova M et al.
Frontiers in Cardiovascular Medicine, 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
The Journey of Human Transthyretin: Synthesis, Structure Stability, and Catabolism.
Sanguinetti C et al.
Biomedicines, 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
Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant.
Treviño-Herrera AB et al.
Ophthalmic Genetics, 2022
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria.
Chamova T et al.
Frontiers in Neurology, 2022
Characterization of population genetic structure of hereditary transthyretin amyloidosis in Bulgaria.
Pavlova Z et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021
Founder effect of the Glu89Gln TTR mutation in the Bulgarian population.
Kirov A et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.
Rowczenio D et al.
Human Mutation, 2019
Misidentification of transthyretin and immunoglobulin variants by proteomics due to methyl lysine formation in formalin-fixed paraffin-embedded amyloid tissue.
Canetti D et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.
Carr AS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin Amyloidosis.
Coelho T et al.
Neurology and Therapy, 2016