Associated Papers
Multicenter study of patients with transthyretin cardiac amyloidosis in Poland: Clinical characteristics, genotyping, electrocardiographic features, outcome predictors, and tafamidis treatment outcomes.
Gawor-Prokopczyk M et al.
Kardiologia Polska, 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
Transthyretin leptomeningeal amyloidosis.
Qiu Y et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis.
Sekijima Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
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
TTR associated leptomeningeal amyloidosis in a Sri Lankan patient.
Muthukumarasamy M et al.
Journal of the Neurological Sciences, 2024
Transthyretin mutagenesis: impact on amyloidogenesis and disease.
Almeida ZL et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Structural and thermodynamic characterization of a highly amyloidogenic dimer of transthyretin involved in a severe cardiomyopathy.
Martins LDA et al.
The Journal of Biological Chemistry, 2024
Structure of the human heparan-α-glucosaminide N-acetyltransferase (HGSNAT).
Navratna V et al.
Biorxiv : the Preprint Server for Biology, 2024
Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review.
Yu TP et al.
Acta Cardiologica, 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
2023 Expert Consensus of the Taiwan Society of Cardiology on the Diagnosis and Treatment of Cardiac Amyloidosis.
Wang CC et al.
Acta Cardiologica Sinica, 2023
Distribution and progression of cerebral amyloid angiopathy in early-onset V30M (p.V50M) hereditary ATTR amyloidosis.
Takahashi Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023
CSF/plasma levels, transthyretin stabilisation and safety of multiple doses of tolcapone in subjects with hereditary ATTR amyloidosis.
Takahashi Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.
Carroll A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Cerebellar and Cerebral Amyloid Visualized by [18F]flutemetamol PET in Long-Term Hereditary V30M (p.V50M) Transthyretin Amyloidosis Survivors.
Uneus EI et al.
Frontiers in Neurology, 2022
A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J et al.
Neurology and Therapy, 2021
Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis.
Dohrn MF et al.
Neurological Research and Practice, 2021
Current Review of Leptomeningeal Amyloidosis Associated With Transthyretin Mutations.
Qin Q et al.
The Neurologist, 2021
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
Adams D et al.
Journal of Neurology, 2021
Impaired in vitro growth response of plasma-treated cardiomyocytes predicts poor outcome in patients with transthyretin amyloidosis.
Hein S et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2021
Elevated interleukin-6 levels are associated with impaired outcome in cardiac transthyretin amyloidosis.
Hein SJ et al.
World Journal of Cardiology, 2021
Targeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis.
Dohrn MF et al.
Journal of Neurochemistry, 2021
Magnetization transfer ratio quantifies polyneuropathy in hereditary transthyretin amyloidosis.
Kollmer J et al.
Annals of Clinical and Translational Neurology, 2020
Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan.
Chao HC et al.
Annals of Clinical and Translational Neurology, 2019
The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.
Fan K et al.
Journal of Neurology, 2019
Update on the clinical utility of an RNA interference-based treatment: focus on Patisiran.
Rizk M et al.
Pharmacogenomics and Personalized Medicine, 2017
Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin Amyloidosis.
Coelho T et al.
Neurology and Therapy, 2016
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area.
Cortese A et al.
Journal of Neurology, 2016
Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.
Parman Y et al.
Current Opinion in Neurology, 2016
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Sekijima Y
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Recent progress in the understanding and treatment of transthyretin amyloidosis.
Sekijima Y
Journal of Clinical Pharmacy and Therapeutics, 2014
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
[Clinical diversity, diagnosis and treatment of hereditary amyloid neuropathy].
Sekijima Y
Rinsho Shinkeigaku = Clinical Neurology, 2014
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.
Dohrn MF et al.
Journal of Neurology, 2013
Familial amyloidotic polyneuropathy and transthyretin.
Nagasaka T
Sub-cellular Biochemistry, 2012
MS-based phenotypic characterization of a human blood protein from urinary waste products.
Kiernan UA et al.
Proteomics. Clinical Applications, 2008
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
Genetic microheterogeneity of human transthyretin detected by IEF.
Altland K et al.
Electrophoresis, 2007
Cardiac amyloidosis: heterogenous pathogenic backgrounds.
Ikeda S
Internal Medicine (tokyo, Japan), 2004
Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy.
Hattori T et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2003
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
Clinical and pathological findings of non-Val30Met TTR type familial amyloid polyneuropathy in Japan.
Ikeda S et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2003
Report from the Familial Amyloidotic Polyneuropathy World Transplant Registry (FAPWTR) and the Domino Liver Transplant Registry (DLTR).
Ericzon BG et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2003
Liver transplantation as treatment for neurological disorders.
Ikeda S et al.
Expert Review of Neurotherapeutics, 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