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
Assessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three Immunoassays.
Berends M et al.
Journal of Clinical Medicine, 2026
Endothelial glycocalyx disruption and early renal tubular injury in hereditary transthyretin Amyloidosis with dysautonomia.
Brito LA et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
Genome sequencing of 35,024 predominantly African ancestry persons addresses gaps in genomics and healthcare.
Avery C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Etiologic Diagnosis of Neuropathies Based on First-Line Screening of TTR Gene Mutations.
Magot A et al.
Journal of the Peripheral Nervous System : Jpns, 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
Advanced echocardiographic assessment in transthyretin amyloidosis: early phenotype markers in mutation carriers.
Squassante Capeline L et al.
European Heart Journal. Cardiovascular Imaging, 2025
TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.
Ait Tayeb AEK et al.
European Journal of Neurology, 2025
His108Arg Transthyretin Amyloidosis-Shedding Light on a Distinctively Malignant Variant.
Binder C et al.
Journal of Clinical Medicine, 2024
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.
Rösner S et al.
Journal of Clinical Medicine, 2024
Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study.
Nakamura K et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
Cardiac [99mTc]Tc-hydroxydiphosphonate uptake on bone scintigraphy in patients with hereditary transthyretin amyloidosis: an early follow-up marker?
Tingen HSA et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2024
Amyloid Burden Correlates with Electrocardiographic Findings in Patients with Cardiac Amyloidosis-Insights from Histology and Cardiac Magnetic Resonance Imaging.
Duca F 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 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
Neurofilament light chain as a biomarker for monitoring response to change in treatment in hereditary ATTR amyloidosis.
Sato M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
A narrative review and expert recommendations on the assessment of the clinical manifestations, follow-up, and management of post-OLT patients with ATTRv amyloidosis.
Casasnovas C et al.
Therapeutic Advances in Neurological Disorders, 2023
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
Involvement of cranial nerves in ATTR Ile127Val amyloidosis.
Silva Batista JAD et al.
European Journal of Medical Genetics, 2022
Urinary Transthyretin as a Biomarker in ATTRv Val50Met Amyloidosis.
Matsushita H et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 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
A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy.
Ostojic M et al.
Cureus, 2022
Pulmonary 99mTc-HMDP uptake correlates with restrictive ventilatory defects and abnormal lung reactance in transthyretin cardiac amyloidosis patients.
Monfort A et al.
Respiratory Research, 2022
Restrictive spirometry pattern and abnormal cardiopulmonary response to exercise in transthyretin cardiac amyloidosis.
Banydeen R et al.
The European Respiratory Journal, 2022
Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.
Skrahina V et al.
Annals of Medicine, 2021
Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina.
Saez MS et al.
Molecular Genetics & Genomic Medicine, 2021
Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression.
Adams D et al.
Orphanet Journal of Rare Diseases, 2021
Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records.
Carry BJ et al.
Jacc. Cardiooncology, 2021
Real-world outcomes in non-endemic hereditary transthyretin amyloidosis with polyneuropathy: a 20-year German single-referral centre experience.
Ungerer MN et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Janin A et al.
Molecular Diagnosis & Therapy, 2021
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
Zimmermann M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis.
Bunod R et al.
The British Journal of Ophthalmology, 2020
Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration.
Ibrahim RB et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Transthyretin amyloidosis: Putting myopathy on the map.
Pinto MV et al.
Muscle & Nerve, 2020
Electrophysiological demyelinating features in hereditary ATTR amyloidosis.
Ohashi N et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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
Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas.
Thimm A et al.
Neurological Research and Practice, 2019
A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy.
Chen Q et al.
Molecular Neurobiology, 2018
Oculoleptomeningeal Amyloidosis Secondary to the Rare Transthyretin c.381T>G (p.Ile127Met) Mutation.
Mathieu F et al.
World Neurosurgery, 2018
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
Damy T et al.
European Heart Journal, 2016
A case of familial amyloid polyneuropathy (FAP ATTR Ile107Val) with proximal muscle weakness in the lower extremities.
Kuzume D et al.
Rinsho Shinkeigaku = Clinical Neurology, 2016
Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: An ALS mimicker.
Goyal NA et al.
Neurology. Genetics, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015