Associated Papers
Neuropathy impairment and nutritional status with eplontersen in patients with hereditary transthyretin-mediated amyloidosis.
Wixner J et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2026
[18F]florbetapir PET for early detection of amyloidosis in patients with hereditary transthyretin amyloidosis polyneuropathy.
Kong Y et al.
Genes & Diseases, 2026
Intraocular amyloidosis presenting with secondary glaucoma: a clinical-pathologic report and literature review.
Lin JB et al.
American Journal of Ophthalmology Case Reports, 2026
Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil.
Maximiano-Alves G et al.
Journal of the Peripheral Nervous System : Jpns, 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
The causative role of amyloidosis in the cardiac complications of Alzheimer's disease: a comprehensive systematic review.
Parker S et al.
The Journal of Physiology, 2026
Genetic landscape of hereditary cardiomyopathies and arrhythmias in China.
Lu Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 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
Significance of aberrant nerve conduction in hereditary transthyretin amyloidosis.
Ide T et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
Long-term outcome of acquired transthyretin amyloidosis.
Misumi Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
Transthyretin amyloid cardiomyopathy: from cause to novel treatments.
Fontana M et al.
European Heart Journal, 2026
Primary oculoleptomeningeal transthyretin amyloidosis with subarachnoid hemorrhages, visual loss, and heart and skin amyloid deposits.
Francia A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Hereditary transthyretin amyloidosis with hand weakness and bulbar involvement.
Bernsen S et al.
Practical Neurology, 2026
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
Fanidis D et al.
Genomics, 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
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
Amyloidogenic phenotypical variation affects post-transplant outcome of hereditary transthyretin amyloidosis: a retrospective study.
Wilczek HE et al.
Egastroenterology, 2026
Pittsburgh compound B positron emission tomography detects cardiomyopathy in hereditary transthyretin amyloidosis patients with negative bone scintigraphy: a pilot study.
Tingen HSA et al.
Frontiers in Nuclear Medicine, 2026
Relationship between amyloid choroidopathy and neurological involvement severity scores in transthyretin amyloidosis.
Hamoudi L et al.
Journal Francais D'ophtalmologie, 2025
If you search, you find: a new lens on hereditary transthyretin amyloidosis in Italy.
Mora-Ayestarán N et al.
European Heart Journal. Quality of Care & Clinical Outcomes, 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
Long-term follow-up with magnetic resonance neurography in a patient with hereditary transthyretin amyloidosis treated with inotersen.
Gasparotti R et al.
Journal of the Neurological Sciences, 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
Clinical and neurophysiological features of neuropathic pain in hereditary transthyretin amyloidosis associated polyneuropathy.
Conceição I et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
Impact of disease-modifying drugs in patients with transthyretin amyloidosis after liver transplantation: a systematic review.
Santo C et al.
Transplantation Reviews (orlando, Fla.), 2025
Genetic Landscape of Opsoclonus-Myoclonus-Ataxia Syndrome in Children.
Gorman MP et al.
Pediatric Neurology, 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
p.Asp58Val Hereditary Transthyretin Amyloidosis: A Case Report and Literature Review.
Ramnarain J et al.
Cureus, 2025
Specificities of amyloid cardiomyopathy caused by transthyretin V30 mutation.
Pereira Santos M et al.
Journal of Cardiology, 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
Intracellular amyloidosis in peripheral nerve and skeletal muscle.
Grafham GK et al.
Journal of Neuropathology and Experimental Neurology, 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
Multisystemic manifestations of a rare Glu89Lys (p. Glu109Lys) transthyretin amyloidosis: a case report of an East Asian female.
Huang L et al.
Bmc Neurology, 2025
Nexiguran Ziclumeran Gene Editing in Hereditary ATTR with Polyneuropathy.
Gillmore JD et al.
The New England Journal of Medicine, 2025
Scalloped pupil in a patient with hereditary amyloidosis transthyretin.
Batista AN et al.
Medicina Clinica, 2025
Impact of Genetic Testing Family Screening in Hereditary Transthyretin Amyloidosis.
Mora-Ayestarán N et al.
Jacc. Cardiooncology, 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
Real-world treatment management in hereditary transthyretin amyloidosis - an experience report and proposal for therapy switch decision criteria.
Dieu DC et al.
Neurological Research and Practice, 2025
Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.
de Frutos F et al.
Revista Espanola De Cardiologia (english Ed.), 2025