Associated Papers
Assessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three Immunoassays.
Berends M et al.
Journal of Clinical Medicine, 2026
Left Bundle Branch Area Pacing for Cardiac Amyloidosis With Ser43Asn Mutant Transthyretin: A Case Report.
Yao F et al.
Catheterization and Cardiovascular Interventions : Official Journal of the Society for Cardiac Angiography & Interventions, 2026
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
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
Human-Induced Pluripotent Stem Cell Models for Amyloid Cardiomyopathy: From Mechanistic Insights to Therapeutic Discovery.
Liu Y et al.
Journal of Cardiovascular Development and Disease, 2025
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
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
Poor Outcome of the p.Ser43Asn TTR Variant Causing Hereditary Transthyretin Amyloidosis in Korea.
An SY et al.
International Journal of Heart Failure, 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
Case report and literature review of transthyretin amyloidosis with p.Ser43Asn mutation presenting in China.
Abulikemu K et al.
Frontiers in Cardiovascular Medicine, 2025
Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.
Castellar-Leones SM et al.
Orphanet Journal of Rare Diseases, 2024
Cardiomyopathy: pathogenesis and therapeutic interventions.
Huang S et al.
Medcomm, 2024
Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: Case Reports.
Luzuriaga Carpio DE et al.
Medical Sciences (basel, Switzerland), 2024
[A pedigree with hypertrophic cardiomyopathy caused by a thyroxine translocator c.128G>A mutation].
Sun YQ et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2024
Determinants of transthyretin levels and their association with adverse clinical outcomes among UK Biobank participants.
Shetty NS et al.
Nature Communications, 2024
Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review.
Yu TP et al.
Acta Cardiologica, 2024
Chest pain in a patient with transthyretin cardiac amyloidosis: A case report.
Xie L et al.
Clinical Case Reports, 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
Cardiac [99mTc]Tc-hydroxydiphosphonate uptake on bone scintigraphy in patients with hereditary transthyretin amyloidosis: an early follow-up marker?
Tingen HSA et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2024
Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review.
Merino-Merino AM et al.
Biomedicines, 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
Generation of an induced pluripotent stem cell line (ESi107-A) from a transthyretin amyloid cardiomyopathy (ATTR-CM) patient carrying a p.Ser43Asn mutation in the TTR gene.
Montero-Calle P et al.
Stem Cell Research, 2023
Hereditary transthyretin amyloidosis caused by p.Ser43Asn variant. A new endemic variant in Ecuador.
Porres-López E et al.
Revista Espanola De Cardiologia (english Ed.), 2023
Corneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis.
Thimm A et al.
Journal of Neurology, 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
Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy.
Maestro-Benedicto A et al.
European Journal of Heart Failure, 2022
Surveillance for disease progression of transthyretin amyloidosis after heart transplantation in the era of novel disease modifying therapies.
Griffin JM et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2022
Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.
Wang S et al.
Frontiers in Cardiovascular Medicine, 2022
Cardiac transplantation in transthyretin amyloid cardiomyopathy: Outcomes from three decades of tertiary center experience.
Razvi Y et al.
Frontiers in Cardiovascular Medicine, 2022
Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review.
Papathanasiou M et al.
Molecular Genetics & Genomic Medicine, 2021
Management of transthyretin amyloidosis.
Condoluci A et al.
Swiss Medical Weekly, 2021
Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis.
Louwsma J et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.
Rowczenio D et al.
Human Mutation, 2019
Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.
Liu N et al.
Scientific Reports, 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