Associated Papers
Efficacy of Acoramidis in Wild-Type and Variant Transthyretin Amyloid Cardiomyopathy: Results From ATTRibute-CM and Its Open-Label Extension.
Alexander KM et al.
Jama Cardiology, 2026
Nerve ultrasound in asymptomatic hereditary transthyretin amyloidosis carriers.
Wilder-Smith E et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2026
Multicenter study of patients with transthyretin cardiac amyloidosis in Poland: Clinical characteristics, genotyping, electrocardiographic features, outcome predictors, and tafamidis treatment outcomes.
Gawor-Prokopczyk M et al.
Kardiologia Polska, 2026
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
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
Transthyretin Amyloid Cardiomyopathy-2025 Update: Current Diagnostic Approaches and Emerging Therapeutic Options.
Tschöpe C et al.
Journal of Clinical Medicine, 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
Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis.
Pavlova Z et al.
Genes, 2025
Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis.
Sekijima Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
Patisiran in ATTRv amyloidosis with polyneuropathy: "PatisiranItaly" multicenter observational study.
Di Stefano V et al.
Journal of Neurology, 2025
Prevalence and characteristics of transthyretin amyloid cardiomyopathy in hypertrophic cardiomyopathy.
Garcia-Pavia P et al.
Esc Heart Failure, 2024
Spectrum of hereditary transthyretin amyloidosis due to T60A(p.Thr80Ala) variant in an Irish Amyloidosis Network.
Hewitt K et al.
Open Heart, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.
Chiaro G et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
First description of Portuguese patients with cardiac amyloidosis and p.Val142Ile: more evidence of an "African variant" in Caucasians.
da Costa CM et al.
Scandinavian Cardiovascular Journal : Scj, 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
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
Gene Silencing Therapy in Hereditary (Variant) Transthyretin Cardiac Amyloidosis: A Puzzling Case of Decreasing Pyrophosphate Uptake on Scintigraphy.
Smiley DA et al.
Circulation. Cardiovascular Imaging, 2023
Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.
de Frutos F et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.
Gospodinova M et al.
Frontiers in Cardiovascular Medicine, 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
Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy.
Maestro-Benedicto A et al.
European Journal of Heart Failure, 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
Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.
Dugo K et al.
Biomedicines, 2022
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Motor Conduction Studies and Handgrip in Hereditary TTR Amyloidosis: Simple Tools to Evaluate the Upper Limbs.
Di Stefano V et al.
Frontiers in Neurology, 2022
Lumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis.
Çakar A et al.
Noro Psikiyatri Arsivi, 2022
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria.
Chamova T et al.
Frontiers in Neurology, 2022
Italian Real-Life Experience of Patients with Hereditary Transthyretin Amyloidosis Treated with Patisiran.
Di Stefano V et al.
Pharmacogenomics and Personalized Medicine, 2022
Characterization of population genetic structure of hereditary transthyretin amyloidosis in Bulgaria.
Pavlova Z et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021
Phenotypic Differences of Glu89Gln Genotype in ATTR Amyloidosis From Endemic Loci: Update From THAOS.
Gentile L et al.
Cardiology and Therapy, 2021
A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J et al.
Neurology and Therapy, 2021
Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.
Skrahina V et al.
Annals of Medicine, 2021
Management of transthyretin amyloidosis.
Condoluci A et al.
Swiss Medical Weekly, 2021
Use of Drugs for ATTRv Amyloidosis in the Real World: How Therapy Is Changing Survival in a Non-Endemic Area.
Russo M et al.
Brain Sciences, 2021
Clinical profile and outcome of cardiac amyloidosis in a Spanish referral center.
López-Sainz Á et al.
Revista Espanola De Cardiologia (english Ed.), 2021