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
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
Neurofilament light chain as a biomarker for monitoring response to change in treatment in hereditary ATTR amyloidosis.
Sato M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
Prognosis of Transthyretin Cardiac Amyloidosis Without Heart Failure Symptoms.
Gonzalez-Lopez E et al.
Jacc. Cardiooncology, 2022
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.
Tzagournissakis M et al.
Neurology. Genetics, 2022
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
Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina.
Saez MS et al.
Molecular Genetics & Genomic Medicine, 2021
Management of transthyretin amyloidosis.
Condoluci A et al.
Swiss Medical Weekly, 2021
Current Review of Leptomeningeal Amyloidosis Associated With Transthyretin Mutations.
Qin Q et al.
The Neurologist, 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
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.
Rowczenio D et al.
Human Mutation, 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
Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis.
Choi K et al.
Journal of Clinical Neurology (seoul, Korea), 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
Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds.
Liu G et al.
Journal of the Peripheral Nervous System : Jpns, 2017
Ophthalmological manifestations of hereditary transthyretin amyloidosis.
Gondim FAA et al.
Arquivos Brasileiros De Oftalmologia, 0