Associated Papers
p.Asp58Val Hereditary Transthyretin Amyloidosis: A Case Report and Literature Review.
Ramnarain J et al.
Cureus, 2025
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.
Singh A et al.
Journal of Clinical Medicine, 2025
41095902 (PubMed )
Supplement: jcm-14-06821-s001.zip › jcm-3769433-supplementary.pdf
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
40998828 (PubMed )
Supplement: 41540_2025_582_MOESM1_ESM.pdf
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 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
Case Report: A rare transthyretin mutation p.D58Y in a Chinese case of transthyretin amyloid cardiomyopathy.
Lin J et al.
Frontiers in Cardiovascular Medicine, 2024
Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.
Patel JK et al.
Neurology and Therapy, 2022
Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.
Lipowska M et al.
Neurologia I Neurochirurgia Polska, 2020
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
30736835 (PubMed )
Supplement: 13023_2019_1000_MOESM1_ESM.docx
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.
Rowczenio D et al.
Human Mutation, 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
28335735 (PubMed )
Supplement: 12864_2017_3646_MOESM1_ESM.pdf
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