Associated Papers
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
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
Spectrum of hereditary transthyretin amyloidosis due to T60A(p.Thr80Ala) variant in an Irish Amyloidosis Network.
Hewitt K et al.
Open Heart, 2024
Diagnosing AL and ATTR Amyloid Cardiomyopathy: A Multidisciplinary Approach.
Aus dem Siepen F et al.
Journal of Clinical Medicine, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Gentile L et al.
Orphanet Journal of Rare Diseases, 2023
Practice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan.
Matsushima M et al.
Internal Medicine (tokyo, Japan), 2023
Multimodality imaging for diagnosis of subclinical hereditary transthyretin cardiac amyloidosis.
Asif T et al.
Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology, 2023
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
A natural history analysis of asymptomatic TTR gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Coelho T et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.
Dispenzieri A et al.
Orphanet Journal of Rare Diseases, 2022
Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant.
Treviño-Herrera AB et al.
Ophthalmic Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Early Detection of Cardiac Amyloidosis in Transthyretin Mutation Carriers.
Nagano N et al.
International Heart Journal, 2022
Management of transthyretin amyloidosis.
Condoluci A et al.
Swiss Medical Weekly, 2021
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.
Abouelhoda M et al.
Human Genomics, 2021
Neuromuscular amyloidosis: Unmasking the master of disguise.
Pinto MV et al.
Muscle & Nerve, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
TTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients.
Moshe-Lilie O et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Electrophysiological demyelinating features in hereditary ATTR amyloidosis.
Ohashi N 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
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
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Cutaneous Manifestations of Familial Transthyretin Amyloid Polyneuropathy.
Lanoue J et al.
The American Journal of Dermatopathology, 2016
Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy.
Schmidt HH et al.
Muscle & Nerve, 2016
Delayed diagnosis of transthyretin amyloidosis with a novel mutation (c.210T>A) in the transthyretin gene.
Dekmezian MS et al.
Journal of the American Academy of Dermatology, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Ophthalmological manifestations of hereditary transthyretin amyloidosis.
Gondim FAA et al.
Arquivos Brasileiros De Oftalmologia, 0
Gastrointestinal manifestations in hereditary transthyretin amyloidosis: A case report.
Peñafort-Zamora JC et al.
Revista De Gastroenterologia De Mexico (english), 0