A simple core dataset and disease severity score for hereditary transthyretin (ATTRv) amyloidosis
T Damy, I Conceição, P García-Pavía, J Gillmore… - Amyloid, 2021 - Taylor & Francis
Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is a progressive
multisystemic disease of adult-onset that arises from an inherited mutation in the …
multisystemic disease of adult-onset that arises from an inherited mutation in the …
Oligomerization profile of human transthyretin variants with distinct amyloidogenicity
One of the molecular hallmarks of amyloidoses is ordered protein aggregation involving the
initial formation of soluble protein oligomers that eventually grow into insoluble fibrils. The …
initial formation of soluble protein oligomers that eventually grow into insoluble fibrils. The …
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update
A Dispenzieri, T Coelho, I Conceição… - Orphanet journal of rare …, 2022 - Springer
Background Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease
caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin …
caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin …
Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression
D Adams, V Algalarrondo, M Polydefkis… - Orphanet journal of rare …, 2021 - Springer
Background Hereditary transthyretin-mediated amyloidosis, also known as ATTRv
amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic …
amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic …
A novel monoclonal antibody targeting aggregated transthyretin facilitates its removal and functional recovery in an experimental model
J George, M Rappaport, S Shimoni… - European Heart …, 2020 - academic.oup.com
Aims Cardiac amyloidosis typically manifests as heart failure with preserved left ventricular
function due to extracellular plaques comprising aggregated TTR. Despite recent success in …
function due to extracellular plaques comprising aggregated TTR. Despite recent success in …
Disease-specific biomarkers in transthyretin cardiac amyloidosis
NS Hendren, LR Roth, JL Grodin - Current heart failure reports, 2020 - Springer
Abstract Purpose of Review Transthyretin amyloidosis is an increasingly recognized cause
of restrictive cardiomyopathy related to amyloid fibril deposition in cardiac tissues. As …
of restrictive cardiomyopathy related to amyloid fibril deposition in cardiac tissues. As …
[HTML][HTML] Inotersen to treat polyneuropathy associated with hereditary transthyretin (hATTR) amyloidosis
C Robinson, C Pham, AM Zamarripa… - Health psychology …, 2022 - ncbi.nlm.nih.gov
Background Amyloidosis is a group of diseases with the common pathophysiology of protein
misfolding and aberrant deposition in tissue. There are both acquired and hereditary forms …
misfolding and aberrant deposition in tissue. There are both acquired and hereditary forms …
Advances in the treatment of transthyretin cardiac amyloidosis: current and emerging therapies
AL Warner - … : The Journal of Human Pharmacology and Drug …, 2021 - Wiley Online Library
Transthyretin cardiac amyloidosis (ATTR‐CA) has been recognized as an underdiagnosed
and undertreated cause of heart failure with often unrecognized multiorgan involvement …
and undertreated cause of heart failure with often unrecognized multiorgan involvement …
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with …
MF Dohrn, M Auer-Grumbach, R Baron, F Birklein… - Journal of …, 2021 - Springer
Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTR v) in the TTR
gene. Alongside cardiac dysfunction, the disease typically manifests with a severely …
gene. Alongside cardiac dysfunction, the disease typically manifests with a severely …
Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
Y Ando, M Waddington-Cruz, Y Sekijima… - Orphanet Journal of …, 2023 - Springer
Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder
associated with mutations in the transthyretin gene. Patients present with diverse symptoms …
associated with mutations in the transthyretin gene. Patients present with diverse symptoms …