Associated Papers
Early Detection of Central Nervous System Involvement in ATTRv Using Multimodal MRI and Cognitive Assessments.
de França Nunes RF et al.
European Journal of Neurology, 2026
Structure of ATTRv-F64S fibrils isolated from skin tissue of a living patient.
Yu J et al.
Nature Communications, 2025
A Rare Unusually Aggressive Form of Hereditary Transthyretin Amyloidosis.
Zhang J et al.
Jacc. Case Reports, 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
Effect of G83R Mutation on Transthyretin Protein Structural Stability.
Chen X et al.
Acs Omega, 2025
Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis.
Sekijima Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 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 leptomeningeal transthyretin amyloidosis with heterozygous TTR mutation: a case report and literature review.
Chen HT et al.
Orphanet Journal of Rare Diseases, 2025
Secretion of transthyretin: molecular mechanisms dependent on the endoplasmic reticulum.
Meng J et al.
Frontiers in Physiology, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
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
Distribution and progression of cerebral amyloid angiopathy in early-onset V30M (p.V50M) hereditary ATTR amyloidosis.
Takahashi Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023
Tc-99m PYP scintigraphy identified multi-organ disease associated with transthyretin Phe64Ser mutation.
Zhang X et al.
Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology, 2023
Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.
Patel JK et al.
Neurology and Therapy, 2022
CSF/plasma levels, transthyretin stabilisation and safety of multiple doses of tolcapone in subjects with hereditary ATTR amyloidosis.
Takahashi Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
A family with extremely early onset ATTRv amyloidosis and an F44S mutation in China.
Tao M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant.
Yan XR et al.
Translational Neuroscience, 2022
Surgically treated intradural spinal manifestation of hereditary amyloidogenic transthyretin amyloidosis - A case report and scoping review of the literature.
Voglis S et al.
Brain & Spine, 2022
CNS Involvement in Hereditary Transthyretin Amyloidosis.
Sousa L et al.
Neurology, 2021
An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis.
Durmuş H et al.
Acta Neurologica Scandinavica, 2021
Current Review of Leptomeningeal Amyloidosis Associated With Transthyretin Mutations.
Qin Q et al.
The Neurologist, 2021
Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.
Du K et al.
Annals of Clinical and Translational Neurology, 2021
Mechanisms of Transthyretin Inhibition of IAPP Amyloid Formation.
Wasana Jayaweera S et al.
Biomolecules, 2021
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
Amyloidosis and Ocular Involvement: an Overview.
Dammacco R et al.
Seminars in Ophthalmology, 2020
Neuropathy Associated with Systemic Amyloidosis.
Kaku M et al.
Seminars in Neurology, 2019
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
The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.
Fan K et al.
Journal of Neurology, 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
Update on the clinical utility of an RNA interference-based treatment: focus on Patisiran.
Rizk M et al.
Pharmacogenomics and Personalized Medicine, 2017
Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin Amyloidosis.
Coelho T et al.
Neurology and Therapy, 2016
Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry.
Suhr OB et al.
Transplantation, 2016
Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia.
Ziskin JL et al.
Acta Neuropathologica Communications, 2015
Safety and efficacy of long-term diflunisal administration in hereditary transthyretin (ATTR) amyloidosis.
Sekijima Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2015
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.
Reddi HV et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Age-related oxidative modifications of transthyretin modulate its amyloidogenicity.
Zhao L et al.
Biochemistry, 2013
Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade.
Bulawa CE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
Genotype--phenotype correlation in FAP.
Zeldenrust SR
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2012
Familial amyloidotic polyneuropathy and transthyretin.
Nagasaka T
Sub-cellular Biochemistry, 2012
A new transthyretin mutation associated with leptomeningeal amyloidosis.
Liepnieks JJ et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2011
Transthyretin-related amyloidoses and the heart: a clinical overview.
Rapezzi C et al.
Nature Reviews. Cardiology, 2010
Suppression of choroid plexus transthyretin levels by antisense oligonucleotide treatment.
Benson MD et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2010
A new Thr49Pro transthyretin gene mutation associated with leptomeningeal amyloidosis.
Nakagawa K et al.
Journal of the Neurological Sciences, 2008