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
Diagnostic and treatment approaches of cardiac amyloidosis with wild-type and mutated transthyretin.
Flueren R et al.
Future Cardiology, 2026
Assessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three Immunoassays.
Berends M et al.
Journal of Clinical Medicine, 2026
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
Identifying Subclinical Transthyretin Cardiac Amyloidosis in V142I TTR Carriers: Design, Rationale, and Methods of the VISTA (Variant Imaging of Subclinical Transthyretin Amyloidosis) Study.
Jefferson A et al.
The American Journal of Cardiology, 2026
Clinical Implications of the P.V142I TTR Variant: Insights From CARS.
Wees IR et al.
Jacc. Heart Failure, 2026
Systemic Manifestations and Mortality Risk in Transthyretin V142I Variant Carriers: A Million Veteran Program Analysis.
Sideris K et al.
Jacc. Cardiooncology, 2026
Coramitug, a Humanized Monoclonal Antibody for the Treatment of Transthyretin Amyloid Cardiomyopathy: A Phase 2, Randomized, Multicenter, Double-Blind, Placebo-Controlled Trial.
Fontana M et al.
Circulation, 2026
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
Cardiac remodeling and arterial stiffness progression in wild-type vs hereditary transthyretin amyloidosis in Crete.
Korela D et al.
International Journal of Cardiology, 2026
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
Maroni MJ et al.
Brain : a Journal of Neurology, 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
Early Detection of Central Nervous System Involvement in ATTRv Using Multimodal MRI and Cognitive Assessments.
de França Nunes RF et al.
European Journal of Neurology, 2026
Relationship between amyloid choroidopathy and neurological involvement severity scores in transthyretin amyloidosis.
Hamoudi L et al.
Journal Francais D'ophtalmologie, 2025
The phenotypic landscape of p.Ala117Ser transthyretin amyloidosis: distinct clinical profiles and outcomes versus wild-type ATTR.
Tuntiwongkosee P et al.
Bmc Cardiovascular Disorders, 2025
Risk of Systemic Manifestations in Homozygous Carriers of the Transthyretin V142I Variant: A Million Veteran Program Analysis.
Sideris K et al.
Journal of the American Heart Association, 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
Survival in a Contemporary, Real-World Cohort of Patients with Mixed-Phenotype Transthyretin Amyloid Cardiomyopathy Treated with Tafamidis: An Analysis from THAOS.
Wixner J et al.
Cardiology and Therapy, 2025
Unravelling the myriad physiologic roles of transthyretin: critical considerations for treating transthyretin amyloidosis.
Gertz MA et al.
Annals of Medicine, 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
p.Asp58Val Hereditary Transthyretin Amyloidosis: A Case Report and Literature Review.
Ramnarain J et al.
Cureus, 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
Sixty years of experience with hereditary transthyretin amyloidosis: Insights from the Swedish transthyretin amyloidosis registry.
Stenberg L et al.
Journal of Internal Medicine, 2025
Misfolded Fate: A Case Report of Transthyretin Cardiac Amyloidosis in Ghana.
Dzebu AS
Cureus, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.
Gudmundsson S et al.
Nature Communications, 2025
Genetic evaluation of early-onset atrial fibrillation: impact on patient management.
Laws JL et al.
European Heart Journal, 2025
Circulating transthyretin with atrial morpho-functional phenotypes and atrial fibrillation risk, and the modifying role of BMI.
Zhang N et al.
Bmc Medicine, 2025
Transthyretin Cardiac Amyloidosis in Older Black and Hispanic Individuals With Heart Failure.
Ruberg FL et al.
Jama Cardiology, 2025
A Rare Unusually Aggressive Form of Hereditary Transthyretin Amyloidosis.
Zhang J et al.
Jacc. Case Reports, 2025
Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.
Moses RG et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2025
Impact of Genetic Testing Family Screening in Hereditary Transthyretin Amyloidosis.
Mora-Ayestarán N et al.
Jacc. Cardiooncology, 2025
Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis: United Kingdom Experience.
Zhang VJW et al.
Neurology. Genetics, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome 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
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic, Clinical, and Sociodemographic Profile of Individuals with Diagnosis or Family History of Hypertrophic Cardiomyopathy: Insights from a Prospective Cohort.
Santos ES et al.
Genes, 2025
Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.
de Frutos F et al.
Revista Espanola De Cardiologia (english Ed.), 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
"If you search for it, you'll find it": lessons from the Spanish cohort of the p.Val142Ile amyloidosis variant.
Barriales-Villa R 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
Transthyretin Amyloid Cardiomyopathy Treatment: An Updated Review.
Wanniarachchige D et al.
Journal of Clinical Medicine, 2025