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 amyloidosis (ATTRv).
Triposkiadis F et al.
Current Problems in Cardiology, 2025
Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region.
Jacoby E et al.
Muscle & Nerve, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 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
Corneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis.
Thimm A et al.
Journal of Neurology, 2023
Deterioration after Liver Transplantation and Transthyretin Stabilizer Administration in a Patient with ATTRv Amyloidosis with a Leu58Arg (p.Leu78Arg) TTR Variant.
Hikishima S et al.
Internal Medicine (tokyo, Japan), 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mode of death and outcomes of implantable cardioverter defibrillators in transthyretin amyloid cardiomyopathy.
Dale Z et al.
International Journal of Cardiology, 2022
Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.
Skrahina V et al.
Annals of Medicine, 2021
Management of transthyretin amyloidosis.
Condoluci A et al.
Swiss Medical Weekly, 2021
Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program.
Trachtenberg BH et al.
Circulation. Genomic and Precision Medicine, 2021
Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records.
Carry BJ et al.
Jacc. Cardiooncology, 2021
Real-world outcomes in non-endemic hereditary transthyretin amyloidosis with polyneuropathy: a 20-year German single-referral centre experience.
Ungerer MN et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
TTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients.
Moshe-Lilie O et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
Carpal tunnel syndrome and associated symptoms as first manifestation of hATTR amyloidosis.
Karam C et al.
Neurology. Clinical Practice, 2019
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Endomyocardial biopsy in patients with cardiomyopathy of unknown origin: does specialized center experience apply to a tertiary care hospital?
Tebbe U et al.
Bmc Research Notes, 2016
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Sekijima Y
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
In vivo detection of nerve injury in familial amyloid polyneuropathy by magnetic resonance neurography.
Kollmer J et al.
Brain : a Journal of Neurology, 2015