Associated Papers
Serial extracellular volume quantification using cardiac magnetic resonance imaging in transthyretin amyloidosis patients treated with tafamidis.
Duca F et al.
European Radiology, 2026
Structure of ATTRv-F64S fibrils isolated from skin tissue of a living patient.
Yu J et al.
Nature Communications, 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
A computational approach to predict the effects of missense mutations on protein amyloidogenicity: A case study in hereditary transthyretin cardiomyopathy.
Pyankov IA et al.
Journal of Structural Biology, 2025
His108Arg Transthyretin Amyloidosis-Shedding Light on a Distinctively Malignant Variant.
Binder C et al.
Journal of Clinical Medicine, 2024
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.
Rösner S et al.
Journal of Clinical Medicine, 2024
Diagnosing AL and ATTR Amyloid Cardiomyopathy: A Multidisciplinary Approach.
Aus dem Siepen F et al.
Journal of Clinical Medicine, 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
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Gentile L et al.
Orphanet Journal of Rare Diseases, 2023
Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review.
Aldinc E et al.
Bmc Musculoskeletal Disorders, 2023
Amyloid myopathy: expanding the clinical spectrum of transthyretin amyloidosis-case report and literature review.
Ungericht M et al.
Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology, 2023
Does [99mTc]-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) soft tissue uptake allow the identification of patients with the diagnosis of cardiac transthyretin-related (ATTR) amyloidosis with higher risk for polyneuropathy?
Wollenweber T et al.
Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology, 2023
A natural history analysis of asymptomatic TTR gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Coelho T et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.
Dispenzieri A et al.
Orphanet Journal of Rare Diseases, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.
Skrahina V et al.
Annals of Medicine, 2021
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.
Dohrn MF et al.
Journal of Neurology, 2021
Diagnosis and treatment of cardiac amyloidosis: position statement of the German Cardiac Society (DGK).
Yilmaz A et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.
Auer-Grumbach M et al.
Journal of Clinical Medicine, 2020
Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
Marey I et al.
Open Medicine (warsaw, Poland), 2020
Carpal tunnel syndrome and spinal canal stenosis: harbingers of transthyretin amyloid cardiomyopathy?
Aus dem Siepen F et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2019
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.
Rowczenio D et al.
Human Mutation, 2019
Importance of Genetic Testing in the Diagnosis of Transthyretin Cardiac Amyloidosis.
Golbus JR et al.
The American Journal of Medicine, 2018
Polymorphism of Amyloid Fibrils In Vivo.
Annamalai K et al.
Angewandte Chemie (international Ed. in English), 2016
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.
Jang MA et al.
Annals of Human Genetics, 2015
The "Wagshurst study": p.Val40Ile transthyretin gene variant causes late-onset cardiomyopathy.
Bauer R et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2014
Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G).
Klaassen SHC et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0