Associated Papers
Transthyretin variant cerebral amyloid angiopathy fulfilling the modified Boston criteria: Retrospective data from the Bicêtre hospital cohort.
Brunet de Courssou JB et al.
Revue Neurologique, 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
Hereditary Transthyretin Cardiac Amyloidosis With the p.V142I Variant: Mechanistic Insights and Diagnostic Challenges.
Vanhentenrijk S et al.
Circulation. Heart Failure, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.
Chiaro G et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 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
Detection of TTR Amyloid in the Conjunctiva Using a Novel Fluorescent Ocular Tracer.
Pilotte J et al.
Translational Vision Science & Technology, 2024
Structural polymorphism of amyloid fibrils in ATTR amyloidosis revealed by cryo-electron microscopy.
Nguyen BA et al.
Nature Communications, 2024
RNA Targeting and Gene Editing Strategies for Transthyretin Amyloidosis.
Ioannou A et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Surgically treated intradural spinal manifestation of hereditary amyloidogenic transthyretin amyloidosis - A case report and scoping review of the literature.
Voglis S et al.
Brain & Spine, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.
Rowczenio D et al.
Human Mutation, 2019
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.
Carr AS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Sekijima Y
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
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
MuD: an interactive web server for the prediction of non-neutral substitutions using protein structural data.
Wainreb G et al.
Nucleic Acids Research, 2010
Ophthalmological manifestations of hereditary transthyretin amyloidosis.
Gondim FAA et al.
Arquivos Brasileiros De Oftalmologia, 0