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
Hereditary transthyretin cardiac amyloidosis with Glu109Lys mutation presenting with low sensitivity to 99mTc pyrophosphate in scintigraphy: a case description.
Wei YP et al.
Quantitative Imaging in Medicine and Surgery, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
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
Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Damy T et al.
European Heart Journal, 2022
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
Cryo-EM structure of a transthyretin-derived amyloid fibril from a patient with hereditary ATTR amyloidosis.
Schmidt M et al.
Nature Communications, 2019
Transthyretin Glu54Leu - an unknown mutation within the Swedish population associated with amyloid cardiomyopathy and a unique fibril type.
Hellman U et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2019
Orthostatic hypotension in hereditary transthyretin amyloidosis: epidemiology, diagnosis and management.
Palma JA et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 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
Right ventricular involvement in transthyretin amyloidosis.
Arvidsson S et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2018
Reduced left atrial myocardial deformation irrespective of cavity size: a potential cause for atrial arrhythmia in hereditary transthyretin amyloidosis.
Henein MY et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
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
(99m)Tc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis.
Pilebro B et al.
Upsala Journal of Medical Sciences, 2016
Hereditary Transthyretin Amyloidosis in Eight Chinese Families.
Meng LC et al.
Chinese Medical Journal, 2015
A genealogical and clinical study of the phenotypical variation within the Swedish transthyretin His88Arg (p. His108Arg) amyloidosis family.
Hellman U et al.
European Journal of Medical Genetics, 2015
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Familial amyloid polyneuropathy.
Barreiros AP et al.
Digestive Diseases (basel, Switzerland), 2013
Development of cardiomyopathy after liver transplantation in Swedish hereditary transthyretin amyloidosis (ATTR) patients.
Okamoto S et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2011
Prognostic value of pre-transplant cardiomyopathy in Swedish liver transplanted patients for familial amyloidotic polyneuropathy.
Okamoto S et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2011
Continuous development of arrhythmia is observed in Swedish transplant patients with familial amyloidotic polyneuropathy (amyloidogenic transthyretin Val30Met variant).
Okamoto S et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2011
Transthyretin-related amyloidoses and the heart: a clinical overview.
Rapezzi C et al.
Nature Reviews. Cardiology, 2010
Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden.
Suhr OB et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2009
Liver transplantation for familial amyloidotic polyneuropathy: impact on Swedish patients' survival.
Okamoto S et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 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
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
Ventricular late potentials in familial amyloidotic polyneuropathy.
Hörnsten R et al.
Journal of Electrocardiology, 2006
Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants.
Holmgren G et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2005
A Swedish family with the rare Phe33Leu transthyretin mutation.
Holmgren G et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2005
Cardiac amyloidosis: heterogenous pathogenic backgrounds.
Ikeda S
Internal Medicine (tokyo, Japan), 2004
The hereditary amyloidoses.
Benson MD
Best Practice & Research. Clinical Rheumatology, 2003
Hereditary transthyretin amyloidosis from a Scandinavian perspective.
Suhr OB et al.
Journal of Internal Medicine, 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
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
Transthyretin mutations in hyperthyroxinemia and amyloid diseases.
Saraiva MJ
Human Mutation, 2001
Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser.
Janunger T et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2000
New structural information and update on liver transplantation in transthyretin-associated amyloidosis. Report from the 4th International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders & the 3rd International Workshop on Liver Transplantation in Familial Amyloid Polyneuropathy, Umeå Sweden, June 1999.
Ericzon BG et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2000