Associated Papers
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
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.
Wang M et al.
Journal of Neurology, 2023
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.
He X et al.
Orphanet Journal of Rare Diseases, 2022
Neurological manifestations of hereditary transthyretin amyloidosis: a focus on diagnostic delays.
Kaku MC et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
A pilot study of nailfold capillaroscopy in hereditary transthyretin amyloidosis.
Kim D et al.
Scientific Reports, 2022
Patterns of myelinated nerve fibers loss in transthyretin amyloid polyneuropathy and mimics.
Du K et al.
Annals of Clinical and Translational Neurology, 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
OCULAR MANIFESTATIONS OF ASP38ALA AND THR59LYS FAMILIAL TRANSTHYRETIN AMYLOIDOSIS.
Choi KJ et al.
Retina (philadelphia, Pa.), 2022
Disease-associated mutations impacting BC-loop flexibility trigger long-range transthyretin tetramer destabilization and aggregation.
Esperante SA et al.
The Journal of Biological Chemistry, 2021
Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.
Du K et al.
Annals of Clinical and Translational Neurology, 2021
Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy.
Du K et al.
Frontiers in Neurology, 2021
Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China.
Liu L et al.
Chinese Medical Journal, 2020
TTRMDB: A database for structural and functional analysis on the impact of SNPs over transthyretin (TTR) using bioinformatic tools.
Srinivasan E et al.
Computational Biology and Chemistry, 2020
Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy.
He S et al.
Orphanet Journal of Rare Diseases, 2019
Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series.
Waddington-Cruz M 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
Update on the clinical utility of an RNA interference-based treatment: focus on Patisiran.
Rizk M et al.
Pharmacogenomics and Personalized Medicine, 2017
Rapid detection of wild-type and mutated transthyretins.
Tasaki M et al.
Annals of Clinical Biochemistry, 2016
The importance of a gatekeeper residue on the aggregation of transthyretin: implications for transthyretin-related amyloidoses.
Sant'Anna R et al.
The Journal of Biological Chemistry, 2014
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.
Reddi HV et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis.
Connors LH et al.
American Heart Journal, 2009
Familial amyloid polyneuropathy: a clinico-pathologic study.
Said G et al.
Journal of the Neurological Sciences, 2009
SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy.
Ueda M et al.
Clinical Chemistry, 2009
Novel methods for detecting amyloidogenic proteins in transthyretin related amyloidosis.
Ando Y et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
The molecular biology and clinical features of amyloid neuropathy.
Benson MD et al.
Muscle & Nerve, 2007
Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene.
Munar-Qués M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2007
Diflunisal stabilizes familial amyloid polyneuropathy-associated transthyretin variant tetramers in serum against dissociation required for amyloidogenesis.
Tojo K et al.
Neuroscience Research, 2006
Biochemical characteristics of variant transthyretins causing hereditary leptomeningeal amyloidosis.
Mitsuhashi S et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2005
Familial amyloid polyneuropathy in Korea: the first case report with a proven ATTR Lys35Asn gene.
Ryu JK et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2005
The hereditary amyloidoses.
Benson MD
Best Practice & Research. Clinical Rheumatology, 2003
Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families.
Planté-Bordeneuve V et al.
Journal of Medical Genetics, 2003
Tabulation of human transthyretin (TTR) variants, 2003.
Connors LH et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2003
Structural distribution of mutations associated with familial amyloidotic polyneuropathy in human transthyretin.
Eneqvist T et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2001
Transthyretin mutations in hyperthyroxinemia and amyloid diseases.
Saraiva MJ
Human Mutation, 2001
Tabulation of transthyretin (TTR) variants as of 1/1/2000.
Connors LH et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2000
Autonomic dysfunction in familial amyloidotic polyneuropathy (FAP).
Ando Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 1998
Leptomeningeal amyloid and variant transthyretins.
Benson MD
The American Journal of Pathology, 1996