Associated Papers
[18F]florbetapir PET for early detection of amyloidosis in patients with hereditary transthyretin amyloidosis polyneuropathy.
Kong Y et al.
Genes & Diseases, 2026
Response to correspondence on 'Change in prevalence of ATTR variants in Italy'.
Fumagalli C et al.
European Heart Journal. Quality of Care & Clinical Outcomes, 2026
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
Clinical and genetic analysis of a family with transthyretin amyloid polyneuropathy caused by a TTR Lys55Asn mutation.
Qian N et al.
Orphanet Journal of Rare Diseases, 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
Change in prevalence of ATTR variants in Italy: results from a national survey.
Fumagalli C et al.
European Heart Journal. Quality of Care & Clinical Outcomes, 2025
Human-Induced Pluripotent Stem Cell Models for Amyloid Cardiomyopathy: From Mechanistic Insights to Therapeutic Discovery.
Liu Y et al.
Journal of Cardiovascular Development and Disease, 2025
Retinal and Choroidal Changes in Transthyretin-Related Amyloidosis Using Optical Coherence Tomography Modalities: A Systematic Review.
Ziafati M et al.
Ophthalmology and Therapy, 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
Parallel Neurological and Cardiac Progression in Hereditary Transthyretin Amyloidosis: An Integrated Clinical and Imaging Study.
Canciello G et al.
Diagnostics (basel, Switzerland), 2025
Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.
Dinatolo F et al.
Genes, 2025
Phenotypic Presentation and Longitudinal Characterization of Hereditary ATTRv Amyloidosis in Previously Undiagnosed Family Members.
Fazzini L et al.
Jacc. Advances, 2025
Hereditary transthyretin cardiac amyloidosis with Glu109Lys mutation presenting with low sensitivity to 99mTc pyrophosphate in scintigraphy: a case description.
Wei YP et al.
Quantitative Imaging in Medicine and Surgery, 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
Early Detection of Transthyretin Cardiac Amyloidosis Using 124I-Evuzamitide Positron Emission Tomography/Computed Tomography.
Smiley DA et al.
Jacc. Cardiovascular Imaging, 2025
Intracutaneous Amyloid Deposition is Associated With Nerve Conduction Studies Deterioration in Presumed Asymptomatic Pathogenic Variant TTR Carriers.
Schulz N et al.
European Journal of Neurology, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 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
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
Elevated serum concentrations of GFAP in hereditary transthyretin amyloidosis since pre-symptomatic stages.
Plantone D et al.
Journal of Neurology, 2025
Intraepineurial Fat Fraction: A Novel MR Neurography-Based Biomarker in Transthyretin Amyloidosis Polyneuropathy.
Cruz ES et al.
European Journal of Neurology, 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
Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant.
Messina C et al.
Journal of Personalized Medicine, 2025
Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region.
Jacoby E et al.
Muscle & Nerve, 2025
Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.
Berard N et al.
Muscle & Nerve, 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Real-life experience with disease-modifying drugs in hereditary transthyretin amyloid polyneuropathy: A clinical and electrophysiological appraisal.
Rebouh H et al.
European Journal of Neurology, 2025
Wild-type Cardiac Amyloidosis due to Transthyretin Protein - A Review.
Shehzad M et al.
Journal of Community Hospital Internal Medicine Perspectives, 2025
Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.
Castellar-Leones SM et al.
Orphanet Journal of Rare Diseases, 2024
Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis.
Canciello G et al.
Orphanet Journal of Rare Diseases, 2024
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Transthyretin mutagenesis: impact on amyloidogenesis and disease.
Almeida ZL et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Diagnosing AL and ATTR Amyloid Cardiomyopathy: A Multidisciplinary Approach.
Aus dem Siepen F et al.
Journal of Clinical Medicine, 2024
Epidemiology, diagnosis, and management of cardiac amyloidosis.
Bashir Z et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2024
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
Gentile L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Double pathogenic variant in an ATTRv patient with mixed phenotype.
Sciarrone MA et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2024
Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability.
Carvalho E et al.
Journal of Neurology, 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
Epidemiological Changes in Transthyretin Cardiac Amyloidosis: Evidence from In Vivo Data and Autoptic Series.
Cianci V et al.
Journal of Clinical Medicine, 2024
Molecular basis for non-invasive diagnostics of cardiac amyloids using bone tracers.
Lewkowicz E et al.
Biomaterials Science, 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
Emerging multisystem biomarkers in hereditary transthyretin amyloidosis: a pilot study.
Luigetti M et al.
Scientific Reports, 2024
Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers.
Beauvais D et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2024
Characterization and natural history of different phenotypes in hereditary transthyretin amyloidosis: 40-year experience at a single Italian referral centre.
Caponetti AG et al.
European Journal of Preventive Cardiology, 2024