Associated Papers
Haemorrhagic events in patients with transthyretin cardiac amyloidosis.
Moreno De Redrojo Cortés L et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2026
Updates on hereditary transthyretin amyloidosis polyneuropathy.
Wang TW et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2026
Relationship between amyloid choroidopathy and neurological involvement severity scores in transthyretin amyloidosis.
Hamoudi L et al.
Journal Francais D'ophtalmologie, 2025
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
Atypical gastrointestinal presentation of hereditary transthyretin amyloidosis: a case report highlighting the diagnostic challenge.
Abdulmajid L et al.
European Heart Journal. Case Reports, 2025
Nexiguran Ziclumeran Gene Editing in Hereditary ATTR with Polyneuropathy.
Gillmore JD et al.
The New England Journal of Medicine, 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
Early cardiovascular autonomic failure in ATTRv predicts poor prognosis and may respond to disease-modifying therapy.
Sander L et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Diagnostic Accuracy of Bisphosphonate Scintigraphy in Glu54GlnATTR Cardiomyopathy.
Stan C et al.
Journal of Clinical Medicine, 2025
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.
Ait Tayeb AEK et al.
European Journal of Neurology, 2025
Hereditary cardiac amyloidosis associated with a rare p.Ala101Val transthyretin mutation: a case description.
Yuan S et al.
Quantitative Imaging in Medicine and Surgery, 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 Israel: Genetic Landscape and Clinical Characteristics.
Dori A et al.
European Journal of Neurology, 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
A phenotypic comparison of the Romanian and French ATTRv cohorts: Glu54Gln founder pathogenic variant vs the most common variants in Western Europe.
Neculae G et al.
International Journal of Cardiology, 2025
Deep learning model to diagnose cardiac amyloidosis from haematoxylin/eosin-stained myocardial tissue.
Tohyama T et al.
European Heart Journal. Imaging Methods and Practice, 2025
Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study.
Losada López I et al.
Journal of Clinical Medicine, 2024
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 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
Determinants of transthyretin levels and their association with adverse clinical outcomes among UK Biobank participants.
Shetty NS et al.
Nature Communications, 2024
Rare Variant of Hereditary Amyloid Transthyretin Cardiomyopathy Secondary to Ser97Tyr Mutation.
Yarrarapu SNS et al.
Cureus, 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
False Negative 99mTc-DPD Scintigraphy in pVal50Met (Val30Met) Hereditary Transthyretin Amyloidosis.
Redzepi B et al.
Cjc Open, 2024
High-Sensitivity Cardiac Troponin T to Exclude Cardiac Involvement in TTR Variant Carriers and ATTRv Amyloidosis Patients.
Tingen HSA et al.
Journal of Clinical Medicine, 2024
Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Gentile L et al.
Plos One, 2024
[Importance of genetic study in elderly patients with transthyretin cardiac amyloidosis].
Gallego Delgado M et al.
Medicina Clinica, 2023
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
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
AN 82-YEAR-OLD WOMAN WITH RETINAL VASCULAR SHEATHING AND VITREOUS HEMORRHAGE.
Hudson JL et al.
Retinal Cases & Brief Reports, 2023
Real-Life Evaluation of an Algorithm for the Diagnosis of Cardiac Amyloidosis.
Bézard M et al.
Mayo Clinic Proceedings, 2023
Patisiran for the Treatment of Transthyretin-mediated Amyloidosis with Cardiomyopathy.
Ioannou A et al.
Heart International, 2023
A narrative review and expert recommendations on the assessment of the clinical manifestations, follow-up, and management of post-OLT patients with ATTRv amyloidosis.
Casasnovas C et al.
Therapeutic Advances in Neurological Disorders, 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
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.
Tzagournissakis M et al.
Neurology. Genetics, 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
Distinct Patterns of Amyloid Pathology in Autopsies of Transthyretin S77Y and A97S Amyloidosis: Significance of Symptomatology and Cell Biology.
Chang K et al.
Journal of Neuropathology and Experimental Neurology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mode of death and outcomes of implantable cardioverter defibrillators in transthyretin amyloid cardiomyopathy.
Dale Z et al.
International Journal of Cardiology, 2022
A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J et al.
Neurology and Therapy, 2021
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
Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression.
Adams D et al.
Orphanet Journal of Rare Diseases, 2021
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.
Gillmore JD et al.
The New England Journal of Medicine, 2021
Neuromuscular amyloidosis: Unmasking the master of disguise.
Pinto MV et al.
Muscle & Nerve, 2021