Associated Papers
Negative [99mTc]Tc -DPD Scintigraphy, Presence of Monoclonal Protein and Biopsy Suggestive of AL Amyloidosis in a Patient With Homozygous p.Ala101Val Transthyretin Gene Variant.
Kryszpin P et al.
Clinical Case Reports, 2026
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
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
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Rare transthyretin gene variants (p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys, and p.Phe53Leu): diagnostic pitfalls and clinical characteristics of Polish patients with transthyretin cardiac amyloidosis.
Gawor-Prokopczyk M et al.
Polish Archives of Internal Medicine, 2024
Transthyretin amyloid cardiomyopathy in patients with unexplained increased left ventricular wall thickness.
Holcman K et al.
The International Journal of Cardiovascular Imaging, 2024
Biochemical and biophysical properties of a rare TTRA81V mutation causing mild transthyretin amyloid cardiomyopathy.
Sha Q et al.
Esc Heart Failure, 2024
Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.
Žebrauskienė D et al.
Medicina (kaunas, Lithuania), 2024
Extending the reach of expert amyloidosis care: A feasibility study exploring the staged implementation of a UK amyloidosis network.
Choy CH et al.
Clinical Medicine (london, England), 2024
Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.
Balakrishnan ID et al.
Genetics in Medicine Open, 2024
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis.
Gawor M et al.
Cardiology Journal, 2022
Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore.
Chen Z et al.
Journal of Neuromuscular Diseases, 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
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.
Rowczenio DM et al.
Human Mutation, 2014