Associated Papers
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.
Domínguez-Martínez M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
Sudoscan in ATTRv Amyloidosis: A Potential Marker of Disease Progression?
Romano A et al.
Neurology and Therapy, 2025
Diagnostic Accuracy of Bisphosphonate Scintigraphy in Glu54GlnATTR Cardiomyopathy.
Stan C et al.
Journal of Clinical Medicine, 2025
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Clinical Cues for the Early Diagnosis of Transthyretin-Related Polyneuropathy.
Escolano-Lozano F et al.
Journal of Clinical Neurology (seoul, Korea), 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
Prevalence of transthyretin-related amyloidosis in Tuscany: Data from the regional population-based registry.
Cappelli F et al.
International Journal of Cardiology, 2023
Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.
Gospodinova M et al.
Frontiers in Cardiovascular Medicine, 2023
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
Autonomic dysfunction as first presentation of Glu54Gln transthyretin amyloidosis.
Fortuna A et al.
Journal of the Neurological Sciences, 2022
A descriptive study of transthyretin amyloidosis in a tertiary hospital without a referral unit.
Bueno Juana E et al.
Revista Clinica Espanola, 2022
The Value of Cardiac Magnetic Resonance Imaging in Identification of Rare Diseases Mimicking Hypertrophic Cardiomyopathy.
Fang T et al.
Journal of Clinical Medicine, 2021
Cardiac Transthyretin Amyloidosis: A Nuclear Medicine Leading Role. Situation in a Spanish Center and "State of the Art" in Nuclear Medicine.
Roteta Unceta Barrenechea A et al.
Clinical Nuclear Medicine, 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
Clinical manifestations in hereditary amyloidosis with the variant Glu54Gln transthyretin: a comment.
Roteta Unceta Barrenechea A et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2020
Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting.
Lahuerta C et al.
International Journal of Cardiology, 2020
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
Atypical presentation of transthyretin amyloidosis in a non-endemic area.
Gracia Gutiérrez A et al.
Revista Clinica Espanola, 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
Cardiac Involvement Secondary to a Familial Form of Transthyretin Amyloidosis Resulting From the Glu54Gln Mutation.
Torres-Courchoud I et al.
Revista Espanola De Cardiologia (english Ed.), 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
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.
Rowczenio DM et al.
Human Mutation, 2014
[Amyloid disorder].
Scripcaru G et al.
Revista Medico-chirurgicala a Societatii De Medici Si Naturalisti Din Iasi, 0
[Ascher's syndrome].
Baidan N et al.
Revista Medico-chirurgicala a Societatii De Medici Si Naturalisti Din Iasi, 0