Associated Papers
Efficacy of Acoramidis in Wild-Type and Variant Transthyretin Amyloid Cardiomyopathy: Results From ATTRibute-CM and Its Open-Label Extension.
Alexander KM et al.
Jama Cardiology, 2026
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.
Domínguez-Martínez M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
Survival in a Contemporary, Real-World Cohort of Patients with Mixed-Phenotype Transthyretin Amyloid Cardiomyopathy Treated with Tafamidis: An Analysis from THAOS.
Wixner J et al.
Cardiology and Therapy, 2025
Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis.
Ventayol-Guirado M et al.
Scientific Reports, 2025
Euthyroid hyperthyroxinemia: relevance of albumin and transthyretin genetic variations in a single centre experience.
Piva I et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Intraepineurial Fat Fraction: A Novel MR Neurography-Based Biomarker in Transthyretin Amyloidosis Polyneuropathy.
Cruz ES et al.
European Journal of Neurology, 2025
Survival in a Real-World Cohort of Patients With Transthyretin Amyloid Cardiomyopathy Treated With Tafamidis: An Analysis From the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Garcia-Pavia P et al.
Journal of Cardiac Failure, 2025
A computational approach to predict the effects of missense mutations on protein amyloidogenicity: A case study in hereditary transthyretin cardiomyopathy.
Pyankov IA et al.
Journal of Structural Biology, 2025
Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy.
Konecki C et al.
European Journal of Neurology, 2024
A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study.
Galán Dávila L et al.
Orphanet Journal of Rare Diseases, 2024
Ubiquitin-derived artificial binding proteins targeting oncofetal fibronectin reveal scaffold plasticity by β-strand slippage.
Katzschmann A et al.
Communications Biology, 2024
Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.
Gallego-Delgado M et al.
International Journal of Molecular Sciences, 2024
Approach to the Patient With Raised Thyroid Hormones and Nonsuppressed TSH.
Moran C et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
Stein D et al.
Genome Medicine, 2023
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Borgio JF
Archives of Medical Science : Ams, 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
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A et al.
Communications Biology, 2022
Amyloidogenicity assessment of transthyretin gene variants.
Grether NB et al.
Annals of Clinical and Translational Neurology, 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
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Prevalence and Outcomes of p.Val142Ile TTR Amyloidosis Cardiomyopathy: A Systematic Review.
Chandrashekar P et al.
Circulation. Genomic and Precision Medicine, 2021
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.
Abouelhoda M et al.
Human Genomics, 2021
Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis.
Alves-Ferreira M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
Monticelli M et al.
European Journal of Medical Genetics, 2021
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
Association of Low Plasma Transthyretin Concentration With Risk of Heart Failure in the General Population.
Greve AM et al.
Jama Cardiology, 2021
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting.
Lahuerta C et al.
International Journal of Cardiology, 2020
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
Aguib Y et al.
Npj Genomic Medicine, 2020
Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.
Lahuerta Pueyo C et al.
European Journal of Human Genetics : Ejhg, 2019
Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas.
Thimm A et al.
Neurological Research and Practice, 2019
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.
Chyra Kufova Z et al.
Journal of Clinical Pathology, 2018
Use of Serum Transthyretin as a Prognostic Indicator and Predictor of Outcome in Cardiac Amyloid Disease Associated With Wild-Type Transthyretin.
Hanson JLS et al.
Circulation. Heart Failure, 2018
Incidence of nonamyloidogenic mutations in the transthyretin gene in patients with autonomic and small fiber neuropathy.
Levine TD et al.
Muscle & Nerve, 2018
One mutation, two distinct disease variants: unravelling the impact of transthyretin amyloid fibril composition.
Suhr OB et al.
Journal of Internal Medicine, 2017
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
Damy T et al.
European Heart Journal, 2016
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C et al.
Plos One, 2016
Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt).
Sikora JL et al.
Human Genetics, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
Functional variation of the transthyretin gene among human populations and its correlation with amyloidosis phenotypes.
Polimanti R et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2013
A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.
Olsson M et al.
Bmc Medical Genetics, 2010
Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study.
Tanskanen M et al.
Annals of Medicine, 2008