Associated Papers
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
Characterization and natural history of different phenotypes in hereditary transthyretin amyloidosis: 40-year experience at a single Italian referral centre.
Caponetti AG et al.
European Journal of Preventive Cardiology, 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
Practice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan.
Matsushima M et al.
Internal Medicine (tokyo, Japan), 2023
[A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report].
Chumakova OS et al.
Terapevticheskii Arkhiv, 2023
Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Damy T et al.
European Heart Journal, 2022
Renal amyloidosis: an update on diagnosis and pathogenesis.
Gupta N et al.
Protoplasma, 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
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.
Rapezzi C et al.
European Heart Journal, 2013
Familial amyloid polyneuropathy.
Barreiros AP et al.
Digestive Diseases (basel, Switzerland), 2013
Proteomic characterization of amyloid deposits in transthyretin amyloidosis associated with various mutations.
Valentini V et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2011
The molecular biology and clinical features of amyloid neuropathy.
Benson MD et al.
Muscle & Nerve, 2007
The Dominant white, Dun and Smoky color variants in chicken are associated with insertion/deletion polymorphisms in the PMEL17 gene.
Kerje S et al.
Genetics, 2004
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).
Busse A et al.
American Journal of Medical Genetics. Part A, 2004
The hereditary amyloidoses.
Benson MD
Best Practice & Research. Clinical Rheumatology, 2003