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
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.
Singh A et al.
Journal of Clinical Medicine, 2025
41095902 (PubMed )
Supplement: jcm-14-06821-s001.zip › jcm-3769433-supplementary.pdf
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Prevalence of hereditary transthyretin amyloidosis in CIDP patients with red flags: a multicenter genetic screening and misdiagnosis analysis.
Doneddu PE et al.
Journal of Neurology, 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
Early nociceptive evoked potentials in symptomatic and asymptomatic transthyretin mutation carriers.
Massucco S et al.
Frontiers in Neurology, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
39575713 (PubMed )
Supplement: JAH3-13-e033770-s001.pdf
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.
Mio C et al.
Clinical Genetics, 2024
Determinants of transthyretin levels and their association with adverse clinical outcomes among UK Biobank participants.
Shetty NS et al.
Nature Communications, 2024
39043640 (PubMed )
Supplement: 41467_2024_50231_MOESM2_ESM.pdf
Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis.
Salvalaggio A et al.
Journal of Neurology, 2022
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.
Rowczenio D et al.
Human Mutation, 2019
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
28335735 (PubMed )
Supplement: 12864_2017_3646_MOESM1_ESM.pdf
Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation.
Riboldi G et al.
Case Reports in Neurology, 2011
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