Associated Papers
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Oxidative conversion of transthyretin in formalin-fixed clinical amyloid samples results in the formation of the His90Asp and His90Asn variants.
Raheja S et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Severe Polyneuropathy in Hereditary Transthyretin Amyloidosis Caused by H90D Variant.
Pierce J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024
Phenotype of a second Irish variant causing hereditary amyloidogenic transthyretin amyloidosis.
Asad M et al.
Journal of Neurology, 2022
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.
Gillmore JD et al.
The New England Journal of Medicine, 2021
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
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.
Carr AS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a large Irish kindred.
Jimenez-Zepeda VH et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2015
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.
Rowczenio DM et al.
Human Mutation, 2014