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
Sudoscan in ATTRv Amyloidosis: A Potential Marker of Disease Progression?
Romano A et al.
Neurology and Therapy, 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
Quantitative sensory testing and skin biopsy findings in late-onset ATTRv presymptomatic carriers: Relationships with predicted time of disease onset (PADO).
Leonardi L et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Practice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan.
Matsushima M et al.
Internal Medicine (tokyo, Japan), 2023
Functional and morphometric assessment of small-fibre damage in late-onset hereditary transthyretin amyloidosis with polyneuropathy: the controversial relation between small-fibre-related symptoms and diagnostic test findings.
Galosi E et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023
Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.
Dugo K et al.
Biomedicines, 2022
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
A case of transthyretin amyloidosis with myopathy, neuropathy, and cardiomyopathy resulting from an exceedingly rare mutation transthyretin Ala120Ser (c.418G > T, p.Ala140Ser).
Patel K et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2018
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.
Iorio A et al.
European Journal of Human Genetics : Ejhg, 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
Blink reflex role in algorithmic genetic testing of inherited polyneuropathies.
Wang W et al.
Muscle & Nerve, 2017
Pseudo-homozygous mutation due to a primer site polymorphism in hereditary ATTR amyloidosis: a pitfall of PCR-based genetic testing.
Shibata Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2017