Associated Papers
[18F]florbetapir PET for early detection of amyloidosis in patients with hereditary transthyretin amyloidosis polyneuropathy.
Kong Y et al.
Genes & Diseases, 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
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
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Vitreous amyloidosis caused by Lys55Asn mutation in TTR with peripheral neuropathy onset: a case report of FAP-related complications.
Xue YW et al.
International Journal of Ophthalmology, 2025
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
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.
Wang M et al.
Journal of Neurology, 2023
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
Vitreous amyloidosis caused by a Lys55Asn variant in transthyretin: A case report.
Tan Y et al.
World Journal of Clinical Cases, 2022
Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage.
Shen J et al.
Frontiers in Genetics, 2022
Case Report: Vitreous Amyloidosis Caused by a TTR Lys55Asn Mutation With Intraoperative Suprachoroidal Hemorrhage.
Xu Q et al.
Frontiers in Medicine, 2021
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.
Jang MA et al.
Annals of Human Genetics, 2015
[Transthyretin Arg-83 mutation in vitreous amyloidosis].
Chen L et al.
Yan Ke Xue Bao = Eye Science, 2008
Novel transthyretin gene mutation in familial amyloid neuropathy in India: Case.
Rohatgi S et al.
Annals of African Medicine, 0