Associated Papers
[18F]florbetapir PET for early detection of amyloidosis in patients with hereditary transthyretin amyloidosis polyneuropathy.
Kong Y et al.
Genes & Diseases, 2026
Updates on hereditary transthyretin amyloidosis polyneuropathy.
Wang TW et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2026
The phenotypic landscape of p.Ala117Ser transthyretin amyloidosis: distinct clinical profiles and outcomes versus wild-type ATTR.
Tuntiwongkosee P et al.
Bmc Cardiovascular Disorders, 2025
Peripheral Nerve Ultrasound Findings in Hereditary Transthyretin Amyloidosis in Brazil.
Camelo-Filho AE et al.
Diagnostics (basel, Switzerland), 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
Safety and Efficacy of Tafamidis in Chinese Patients with Transthyretin Amyloid Cardiomyopathy.
Tian Z et al.
Cardiology and Therapy, 2025
Transthyretin variants impact blood-nerve barrier and neuroinflammation in amyloidotic neuropathy.
Chao CC et al.
Brain : a Journal of Neurology, 2025
Unraveling gut microbiome alterations and metabolic signatures in hereditary transthyretin amyloidosis.
Li H et al.
Microbiology Spectrum, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
Advanced echocardiographic assessment in transthyretin amyloidosis: early phenotype markers in mutation carriers.
Squassante Capeline L et al.
European Heart Journal. Cardiovascular Imaging, 2025
Clinical features of hereditary transthyretin amyloidosis-polyneuropathy with transthyretin Ala97Ser(p.Ala117Ser) mutation in South Mainland China.
Zhu Y et al.
Orphanet Journal of Rare Diseases, 2025
Use of technetium-99m-pyrophosphate single-photon emission computed tomography/computed tomography in monitoring therapeutic changes of RNA interference therapeutics in patients with hereditary transthyretin amyloid cardiomyopathy.
Hung YH et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025
Dilemmas and Challenges in the Anesthetic Management of Liver Transplantation for Transthyretin Amyloidosis in the Asian Context: A Case Report.
Yek J et al.
Cureus, 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
The Structural and Dynamic Insights into the Ala97Ser Amyloidogenic Mutation in Transthyretin.
Feng YC et al.
Chemistry, an Asian Journal, 2025
Clinical and biochemical characterization of asymptomatic carriers and symptomatic patients with hereditary transthyretin amyloidosis caused by TTR V30L mutation.
Jiao H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Altered connectivity of central autonomic network: effects of dysautonomia in hereditary transthyretin amyloidosis with polyneuropathy.
Su TJ et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2024
Clinical and molecular insights into A97S variants in hereditary transthyretin amyloid polyneuropathy in South China.
Wang Q et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2024
Patisiran, an RNAi therapeutic for hereditary transthyretin-mediated amyloidosis: Sub-analysis in Taiwanese patients from the APOLLO study.
Lin KP et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2024
Diflunisal versus tafamidis on neuropathy and cardiomyopathy in hereditary transthyretin amyloidosis.
Chao CC et al.
Annals of Clinical and Translational Neurology, 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
Nerve pathology of microangiopathy and thromboinflammation in hereditary transthyretin amyloidosis.
Yeh SJ et al.
Annals of Clinical and Translational Neurology, 2024
The Gly103Arg variant in hereditary transthyretin amyloidosis.
Xiong Y et al.
Frontiers in Neurology, 2024
Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.
Balakrishnan ID et al.
Genetics in Medicine Open, 2024
Strong positive light chain immunostaining in a patient with transthyretin amyloidosis.
Chen J et al.
Hematology (amsterdam, Netherlands), 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
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.
Wang M 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
Tafamidis decreased cardiac amyloidosis deposition in patients with Ala97Ser hereditary transthyretin cardiomyopathy: a 12-month follow-up cohort study.
Tsai CH et al.
Orphanet Journal of Rare Diseases, 2023
Noninvasive multimodality imaging in hereditary transthyretin amyloid cardiomyopathy: a family case series from the southeast coast of China with an identified heterozygous missense mutation c.349G>T in the transthyretin gene.
Du Q et al.
Quantitative Imaging in Medicine and Surgery, 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
2023 Expert Consensus of the Taiwan Society of Cardiology on the Diagnosis and Treatment of Cardiac Amyloidosis.
Wang CC et al.
Acta Cardiologica Sinica, 2023
Efficacy of Tafamidis in Patients with Ala97Ser Hereditary Transthyretin Cardiac Amyloidosis: A Six-Month Follow-Up Study.
Tsai CH et al.
Acta Cardiologica Sinica, 2023
Natural history and survival rate of familial amyloidosis with polyneuropathy: A nationwide databank.
Tseng WH et al.
Annals of Clinical and Translational Neurology, 2023
Hereditary transthyretin amyloid cardiomyopathy.
Zheng Y et al.
Singapore Medical Journal, 2023
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.
Chen PS et al.
Journal of Neuromuscular Diseases, 2023
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).
Brito D et al.
Global Heart, 2023
[Genetic distribution in Chinese patients with hereditary peripheral neuropathy].
Liu XX et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2022
Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.
He X et al.
Orphanet Journal of Rare Diseases, 2022
Clinical recommendations to diagnose and monitor patients with transthyretin amyloid cardiomyopathy in Asia.
Lin W et al.
Clinical Cardiology, 2022