Associated Papers
Assessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three Immunoassays.
Berends M et al.
Journal of Clinical Medicine, 2026
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
Phenotypic Presentation and Longitudinal Characterization of Hereditary ATTRv Amyloidosis in Previously Undiagnosed Family Members.
Fazzini L et al.
Jacc. Advances, 2025
Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region.
Jacoby E et al.
Muscle & Nerve, 2025
Transthyretin mutagenesis: impact on amyloidogenesis and disease.
Almeida ZL et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).
Fernandes F et al.
Orphanet Journal of Rare Diseases, 2024
Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review.
Yu TP et al.
Acta Cardiologica, 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
FAP due to a rare Gly67Glu mutation in the TTR gene.
Chen SY et al.
Acta Neurologica Belgica, 2024
Electrocardiographic heterogeneity of patients with variant transthyretin amyloid cardiomyopathy: Genotype-phenotype correlations.
Russo D et al.
International Journal of Cardiology, 2023
Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.
Gospodinova M et al.
Frontiers in Cardiovascular Medicine, 2023
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.
Tzagournissakis M et al.
Neurology. Genetics, 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
Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.
Wang S et al.
Frontiers in Cardiovascular Medicine, 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
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
Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis.
Louwsma J et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021
Different phenotypes of transthyretin-associated familial amyloid polyneuropathy due to a mutation in p.Glu109Gln in members of the same family.
Erdogan C et al.
Northern Clinics of Istanbul, 2021
Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China.
Liu L et al.
Chinese Medical Journal, 2020
TTRMDB: A database for structural and functional analysis on the impact of SNPs over transthyretin (TTR) using bioinformatic tools.
Srinivasan E et al.
Computational Biology and Chemistry, 2020
Familial Oculo-Leptomeningeal Transthyretin Amyloidosis Caused by Leu55Arg Mutation.
Kleefeld F et al.
Journal of Neuromuscular Diseases, 2020
Founder effect of the Glu89Gln TTR mutation in the Bulgarian population.
Kirov A et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019
Ocular manifestations in hereditary transthyretin Gly67Glu amyloidosis.
Leung KCP et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019
Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series.
Waddington-Cruz M et al.
Orphanet Journal of Rare Diseases, 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
Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation.
Matsushima M et al.
Internal Medicine (tokyo, Japan), 2017
Familial vitreous amyloidosis resulting from transthyretin variant Gly83Arg.
Xie B et al.
Acta Ophthalmologica, 2017
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation.
Lv W et al.
Eye (london, England), 2014
Single-centre experience of liver transplantation for familial amyloidotic polyneuropathy of non-Val30Met variants in Chinese patients.
Dai WC et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2012
Clinical and genetic analysis of three families with familiar amyloid polyneuropathy.
Li YF et al.
Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 2008
Novel methods for detecting amyloidogenic proteins in transthyretin related amyloidosis.
Ando Y et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
[Transthyretin Arg-83 mutation in vitreous amyloidosis].
Chen L et al.
Yan Ke Xue Bao = Eye Science, 2008
Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese.
Mak CM et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2007