Associated Papers
p.Asp58Val Hereditary Transthyretin Amyloidosis: A Case Report and Literature Review.
Ramnarain J et al.
Cureus, 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
Effect of G83R Mutation on Transthyretin Protein Structural Stability.
Chen X et al.
Acs Omega, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Transthyretin mutagenesis: impact on amyloidogenesis and disease.
Almeida ZL et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review.
Yu TP et al.
Acta Cardiologica, 2024
Diagnostic Pitfall and Clinical Characteristics of Variant Versus Wild-Type Transthyretin Amyloid Cardiomyopathy in Asian Population: The Korean Nationwide Cohort Study.
Kim D et al.
Journal of Korean Medical Science, 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
An ultra performance liquid chromatography method for transthyretin variants screening and heart failure assisting diagnosis.
Wang S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Case Report: A rare transthyretin mutation p.D58Y in a Chinese case of transthyretin amyloid cardiomyopathy.
Lin J et al.
Frontiers in Cardiovascular Medicine, 2024
Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.
He X et al.
Orphanet Journal of Rare Diseases, 2022
Vagus nerve ultrasound in transthyretin familial amyloid polyneuropathy: A pilot study.
Du K et al.
Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging, 2022
Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.
Du K et al.
Annals of Clinical and Translational Neurology, 2021
The Structural Understanding of Transthyretin Misfolding and the Inspired Drug Approaches for the Treatment of Heart Failure Associated With Transthyretin Amyloidosis.
He S et al.
Frontiers in Pharmacology, 2021
Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.
Lipowska M et al.
Neurologia I Neurochirurgia Polska, 2020
Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy.
He S et al.
Orphanet Journal of Rare Diseases, 2019
Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis.
Choi K et al.
Journal of Clinical Neurology (seoul, Korea), 2018
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene.
Augustin S et al.
European Journal of Clinical Investigation, 2007
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
Lachmann HJ et al.
The New England Journal of Medicine, 2002
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
Tachibana N et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 1999
Data-independent acquisition mass spectrometry reveals comprehensive plasma protein profiles in the natural history of patients with hereditary transthyretin amyloidosis (ATTRv).
He S et al.
Expert Review of Proteomics, 0