Lori R. Roth
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View article: A Rare Unusually Aggressive Form of Hereditary Transthyretin Amyloidosis
A Rare Unusually Aggressive Form of Hereditary Transthyretin Amyloidosis Open
Understanding the phenotype associated with this ATTRv genotype, along with the patient's family history, guided targeted and timely evaluation and treatment.
View article: Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142I <i>TTR</i> Variant
Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142I <i>TTR</i> Variant Open
BACKGROUND: To better define the importance of the amyloidogenic p.V142I TTR allele across the life span of a carrier, we leveraged data from All of Us to provide a generalizable assessment of the population-level burden of cardiovascular …
View article: Biomarkers in Subclinical Transthyretin Cardiac Amyloidosis
Biomarkers in Subclinical Transthyretin Cardiac Amyloidosis Open
View article: Polymorphic IGLV6-57 AL amyloid fibrils and features of a shared folding pathway
Polymorphic IGLV6-57 AL amyloid fibrils and features of a shared folding pathway Open
Immunoglobulin light chain (AL) amyloidosis is a systemic disorder caused by the misfolding and aggregation of free immunoglobulin light chains (LCs) secreted by abnormal plasma cells. The resulting amyloid fibrils deposit in multiple orga…
View article: Predictive Modeling to Assess Pretest Probability of Transthyretin Gene Variants Based on Demographic Information
Predictive Modeling to Assess Pretest Probability of Transthyretin Gene Variants Based on Demographic Information Open
Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is a morbid condition, though recent advances in diagnosis and therapy stand to change its natural history. Patients’ TTR genotype may guide family screening as more treatments and…
View article: Update on Disease-Specific Biomarkers in Transthyretin Cardiac Amyloidosis
Update on Disease-Specific Biomarkers in Transthyretin Cardiac Amyloidosis Open