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
Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.
Nomura T et al.
Orphanet Journal of Rare Diseases, 2025
Transthyretin mutagenesis: impact on amyloidogenesis and disease.
Almeida ZL et al.
Critical Reviews in Clinical Laboratory Sciences, 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
CTNNB1 mutations, TERT polymorphism and CD8+ cell densities in resected hepatocellular carcinoma are associated with longer time to recurrence.
Ambrozkiewicz F et al.
Bmc Cancer, 2022
Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Damy T et al.
European Heart Journal, 2022
Characteristics of Patients with Hereditary Transthyretin Amyloidosis and an Evaluation of the Safety of Tafamidis Meglumine in Japan: An Interim Analysis of an All-case Postmarketing Surveillance.
Ishii T et al.
Clinical Therapeutics, 2020
Cryo-EM structure of a transthyretin-derived amyloid fibril from a patient with hereditary ATTR amyloidosis.
Schmidt M et al.
Nature Communications, 2019
Hereditary transthyretin-related amyloidosis.
Finsterer J et al.
Acta Neurologica Scandinavica, 2019
Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.
Sekijima Y et al.
Orphanet Journal of Rare Diseases, 2018
Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan.
Yamashita T et al.
Journal of Neurology, 2018
Ocular Manifestations of Familial Transthyretin Amyloidosis.
Reynolds MM et al.
American Journal of Ophthalmology, 2017
Outcomes of Patients With Familial Transthyretin Amyloidosis After Liver Transplantation.
Banerjee D et al.
Progress in Transplantation (aliso Viejo, Calif.), 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
Myopathic phenotype of familial amyloid polyneuropathy with a rare transthyretin variant: ATTR Ala45Asp.
Misumi Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
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
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point.
Rimessi P et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2006
The hereditary amyloidoses.
Benson MD
Best Practice & Research. Clinical Rheumatology, 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
Familial amyloidotic polyneuropathy (ATTR Ser50Ile): the first autopsy case report.
Sakashita N et al.
Virchows Archiv : an International Journal of Pathology, 2000
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
Connors LH et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 1999
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
Théberge R et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 1999
Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.
Herrick MK et al.
Neurology, 1996