Associated Papers
Microvascular dysfunction in patients with transthyretin cardiac amyloidosis evaluated by 13N-ammonia positron emission tomography-computed tomography: is it an early marker of the disease?
Neto A et al.
Diagnostic and Interventional Radiology (ankara, Turkey), 2026
Updates on hereditary transthyretin amyloidosis polyneuropathy.
Wang TW et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2026
Developing a phenotype risk score for TTR V142I to capture undiagnosed variant transthyretin amyloidosis in health systems.
Sarkar D et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Efficacy of Acoramidis in Wild-Type and Variant Transthyretin Amyloid Cardiomyopathy: Results From ATTRibute-CM and Its Open-Label Extension.
Alexander KM et al.
Jama Cardiology, 2026
Multicenter study of patients with transthyretin cardiac amyloidosis in Poland: Clinical characteristics, genotyping, electrocardiographic features, outcome predictors, and tafamidis treatment outcomes.
Gawor-Prokopczyk M et al.
Kardiologia Polska, 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
Impact of patisiran on polyneuropathy of hereditary transthyretin amyloidosis in patients with a V122I or T60A variant: a phase IV multicenter study.
Hussain Y et al.
Annals of Medicine, 2025
Genome sequencing of 35,024 predominantly African ancestry persons addresses gaps in genomics and healthcare.
Avery C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Transthyretin immunohistochemistry on muscle and nerve biopsies detects hereditary and wild-type transthyretin amyloidosis with high sensitivity and specificity.
Elnagdy M et al.
Journal of Neuropathology and Experimental Neurology, 2025
Covert Transthyretin Amyloidosis Mimicking Advanced Obstructive Hypertrophic Cardiomyopathy Despite Multiple Negative 99mTc-PYP Radionuclide Scans.
Reuter M et al.
Jacc. Case Reports, 2025
Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.
de Frutos F et al.
Revista Espanola De Cardiologia (english Ed.), 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
Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.
Dinatolo F et al.
Genes, 2025
Peripheral Nervous System Involvement of Hereditary Transthyretin Amyloidosis in the United States: A Multi-Center Perspective.
Desai U et al.
Muscle & Nerve, 2025
Transthyretin Amyloid Cardiomyopathy-2025 Update: Current Diagnostic Approaches and Emerging Therapeutic Options.
Tschöpe C et al.
Journal of Clinical Medicine, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
Diagnosis and Management of Mixed Phenotype Hereditary Transthyretin Amyloidosis: A Case-Based, Canadian Perspective.
Fine N et al.
Cjc Open, 2025
Hereditary transthyretin amyloidosis (ATTRv).
Triposkiadis F et al.
Current Problems in Cardiology, 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
Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region.
Jacoby E et al.
Muscle & Nerve, 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
Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly.
Chumakova OS et al.
Frontiers in Cardiovascular Medicine, 2025
His108Arg Transthyretin Amyloidosis-Shedding Light on a Distinctively Malignant Variant.
Binder C et al.
Journal of Clinical Medicine, 2024
CRISPR-Cas9 Gene Editing with Nexiguran Ziclumeran for ATTR Cardiomyopathy.
Fontana M et al.
The New England Journal of Medicine, 2024
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Spectrum of hereditary transthyretin amyloidosis due to T60A(p.Thr80Ala) variant in an Irish Amyloidosis Network.
Hewitt K et al.
Open Heart, 2024
Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.
Rösner S et al.
Journal of Clinical Medicine, 2024
Diagnosing AL and ATTR Amyloid Cardiomyopathy: A Multidisciplinary Approach.
Aus dem Siepen F et al.
Journal of Clinical Medicine, 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 genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).
Fernandes F et al.
Orphanet Journal of Rare Diseases, 2024
Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review.
Yu TP et al.
Acta Cardiologica, 2024
The electrocardiographic signature of variant transthyretin amyloidosis.
Slaven S et al.
International Journal of Cardiology, 2024
Reduction in 99mTc-DPD myocardial uptake with therapy of ATTR cardiomyopathy.
Rettl R et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
Deep phenotyping of p.(V142I)-associated variant transthyretin amyloid cardiomyopathy: Distinct from wild-type transthyretin amyloidosis?
Razvi Y et al.
European Journal of Heart Failure, 2024
Hereditary transthyretin amyloidosis presenting with carpal tunnel syndrome.
Zaki N et al.
Cmaj : Canadian Medical Association Journal = Journal De L'association Medicale Canadienne, 2024
Case Report: A rare transthyretin mutation p.D58Y in a Chinese case of transthyretin amyloid cardiomyopathy.
Lin J et al.
Frontiers in Cardiovascular Medicine, 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
Thromboembolic and Bleeding Events in Transthyretin Amyloidosis and Coagulation System Abnormalities: A Review.
Napolitano A et al.
Journal of Clinical Medicine, 2023
Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review.
Aldinc E et al.
Bmc Musculoskeletal Disorders, 2023