Associated Papers
Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil.
Maximiano-Alves G et al.
Journal of the Peripheral Nervous System : Jpns, 2026
Pittsburgh compound B positron emission tomography detects cardiomyopathy in hereditary transthyretin amyloidosis patients with negative bone scintigraphy: a pilot study.
Tingen HSA et al.
Frontiers in Nuclear Medicine, 2026
If you search, you find: a new lens on hereditary transthyretin amyloidosis in Italy.
Mora-Ayestarán N et al.
European Heart Journal. Quality of Care & Clinical Outcomes, 2025
Phenotypic Characterization of Cardiac Involvement in Carriers With Pathogenic TTR Variants Warrants an Evidence-Based Approach.
Muller SA et al.
Jacc. Advances, 2025
Atypical gastrointestinal presentation of hereditary transthyretin amyloidosis: a case report highlighting the diagnostic challenge.
Abdulmajid L et al.
European Heart Journal. Case Reports, 2025
First Reported Case of Dual Hereditary Gelsolin and Transthyretin Wild-Type Cardiac Amyloidosis in a Man in his late 40s.
Theis JL et al.
Mayo Clinic Proceedings. Innovations, Quality & Outcomes, 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 Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.
Dinatolo F et al.
Genes, 2025
Prevalence of hereditary transthyretin amyloidosis in CIDP patients with red flags: a multicenter genetic screening and misdiagnosis analysis.
Doneddu PE et al.
Journal of Neurology, 2025
NfL as a biomarker in ATTRv amyloidosis: potential and limitations.
Russo M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Sudoscan in ATTRv Amyloidosis: A Potential Marker of Disease Progression?
Romano A et al.
Neurology and Therapy, 2025
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
Clinical and Biochemical Characterization of Hereditary ATTR Amyloidosis Caused by a Novel Transthyretin Variant V121A (p.V141A).
Yoshinaga T et al.
International Journal of Molecular Sciences, 2025
Genetic Screening for Hereditary Transthyretin Amyloidosis in the Population of Cammarata and San Giovanni Gemini Through Red Flags and Registry Archives.
Di Stefano V et al.
Brain Sciences, 2025
A computational approach to predict the effects of missense mutations on protein amyloidogenicity: A case study in hereditary transthyretin cardiomyopathy.
Pyankov IA et al.
Journal of Structural Biology, 2025
Patisiran in ATTRv amyloidosis with polyneuropathy: "PatisiranItaly" multicenter observational study.
Di Stefano V et al.
Journal of Neurology, 2025
Portuguese recommendations for the management of transthyretin amyloid cardiomyopathy (Part 1 of 2): Screening, diagnosis and treatment. Developed by the Task Force on the management of transthyretin amyloid cardiomyopathy of the Working Group on Myocardial and Pericardial Diseases of the Portuguese Society of Cardiology.
Marques N et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2025
Deep learning model to diagnose cardiac amyloidosis from haematoxylin/eosin-stained myocardial tissue.
Tohyama T et al.
European Heart Journal. Imaging Methods and Practice, 2025
Monitoring patients and asymptomatic carriers with hereditary transthyretin amyloidosis: regional protocol of Emilia-Romagna ATTR working group.
Guaraldi P et al.
Frontiers in Neurology, 2025
Early nociceptive evoked potentials in symptomatic and asymptomatic transthyretin mutation carriers.
Massucco S et al.
Frontiers in Neurology, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Diagnosing AL and ATTR Amyloid Cardiomyopathy: A Multidisciplinary Approach.
Aus dem Siepen F et al.
Journal of Clinical Medicine, 2024
Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).
Galosi E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Challenges in the approach to a patient with aortic stenosis and cardiac amyloidosis with ATTR mutation associated with negative scintigraphy - A case report.
Magalhães GCM et al.
American Heart Journal Plus : Cardiology Research and Practice, 2024
Left Ventricular Deformation and Myocardial Work Parameters in Patients with Hereditary Transthyretin Amyloidosis Treated with Patisiran: A Single-Center Study.
Di Lisi D et al.
Journal of Clinical Medicine, 2024
Oxidative Stress in Transthyretin-Mediated Amyloidosis: An Exploratory Study.
Fiore M et al.
Antioxidants (basel, Switzerland), 2024
Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).
Fernandes F et al.
Orphanet Journal of Rare Diseases, 2024
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.
Silva SME et al.
Cardiovascular Diagnosis and Therapy, 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
Generation of two induced pluripotent stem cell lines from hereditary amyloidosis patients with polyneuropathy carrying heterozygous transthyretin (TTR) mutation.
Melesio J et al.
Stem Cell Research, 2024
High-Sensitivity Cardiac Troponin T to Exclude Cardiac Involvement in TTR Variant Carriers and ATTRv Amyloidosis Patients.
Tingen HSA et al.
Journal of Clinical Medicine, 2024
Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Gentile L et al.
Plos One, 2024
A rare occurrence and near miss! Should a TTR gene test be routinely performed for suspected ATTR-cardiomyopathy?
Satyavolu B et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023
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
Severe chronic diarrhoea caused by hereditary transthyretin amyloidosis.
Toppeta A et al.
Bmj Case Reports, 2023
Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.
Ando Y et al.
Orphanet Journal of Rare Diseases, 2023
Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.
Gasparotti R et al.
Journal of Neurology, 2023
Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review.
Aldinc E et al.
Bmc Musculoskeletal Disorders, 2023
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
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
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
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
Patisiran for the Treatment of Transthyretin-mediated Amyloidosis with Cardiomyopathy.
Ioannou A et al.
Heart International, 2023
Patisiran Enhances Muscle Mass after Nine Months of Treatment in ATTRv Amyloidosis: A Study with Bioelectrical Impedance Analysis and Handgrip Strength.
Di Stefano V et al.
Biomedicines, 2022
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
Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.
Patel JK et al.
Neurology and Therapy, 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