Results 11 to 20 of about 16,120 (219)

Hereditary transthyretin amyloidosis overview [PDF]

Neurological Sciences, 2020
AbstractHereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic model of ATTRv amyloidosis indicates that amyloidogenic, usually missense, mutations destabilize the native TTR favouring the dissociation of the tetramer into ...
Manganelli, Fiore, Fabrizi, Gian Maria, Luigetti, Marco, Mandich, Paola, Mazzeo, Anna, Pareyson, Davide   +5 more
core   +8 more sources

Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey [PDF]

Cardiology and Therapy, 2023
Introduction Transthyretin amyloidosis (ATTR amyloidosis) is primarily associated with a cardiac or neurologic phenotype, but a mixed phenotype is increasingly described.
Juan González-Moreno, Angela Dispenzieri, Martha Grogan, Teresa Coelho, Ivailo Tournev, Márcia Waddington-Cruz, Jonas Wixner, Igor Diemberger, Pablo Garcia-Pavia, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass, the THAOS investigators   +13 more
doaj   +4 more sources

Inotersen: new promise for the treatment of hereditary transthyretin amyloidosis [PDF]

Drug Design, Development and Therapy, 2019
Veena Mathew,1 Annabel K Wang1,2 1Department of Neurology, UCI ALS and Neuromuscular Center, University of California, Irvine, Orange, CA, USA; 2Neurology Section, Tibor Rubin VA Medical Center, Long Beach, CA, USA Abstract: Hereditary transthyretin ...
Mathew V, Wang AK
doaj   +3 more sources

Guideline of transthyretin-related hereditary amyloidosis for clinicians [PDF]

Orphanet Journal of Rare Diseases, 2013
Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy.
Ando Yukio, Coelho Teresa, Berk John L, Cruz Márcia Waddington, Ericzon Bo-Göran, Ikeda Shu-ichi, Lewis W David, Obici Laura, Planté-Bordeneuve Violaine, Rapezzi Claudio, Said Gerard, Salvi Fabrizio   +11 more
doaj   +2 more sources

Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly). [PDF]

Eur J Neurol
ABSTRACT Background The F64L variant is among the most frequent TTR mutations in Italy, typically associated with a predominantly neurologic phenotype and limited cardiac involvement. Methods Data from 181 ATTRv patients in the multicenter Patisiranitaly database treated with Patisiran since 2020 were analyzed. Neurologic impairment scores, Norfolk QoL‐
Ceccanti M, Guaraldi P, Romano A, Antonini G, Barilaro A, Briani C, Burattini M, Gianoli M, Carlini G, Cianci V, Dossi MC, Di Lisi D, Di Muzio A, Ratti A, Filosto M, Gasverde S, Gemelli C, Gentile L, Goglia M, Leonardi L, Longhi S, Lotti A, Manganelli F, Mazzeo A, Augello SM, Milella G, Novo G, Pareyson D, Fenu S, Palumbo G, Petrelli C, Poli L, Pradotto LG, Russo M, Salvalaggio A, Sciarrone MA, Sellitti L, Tagliapietra M, Tozza S, Castiglia M, Turri M, Verriello L, Chimenti C, Vitali F, Brighina F, Rini N, Inghilleri M, D'Angelo R, Abelardo D, Cambieri C, Libonati L, Moret F, Luigetti M, Di Stefano V.   +53 more
europepmc   +2 more sources

Transthyretin cardiac amyloidosis.

Medicine and pharmacy reports, 2021
Transthyretin amyloid cardiomyopathy (ATTR-CM) may be an under recognized cause of heart failure (HF). TTR amyloidosis can be inherited, caused by variants in the TTR gene (ATTRv) or by deposition of wild-type TTR protein (ATTRwt), leading to high mortality if untreated.
Tomoaia, Raluca, Beyer, Ruxandra, Manole, Simona, Chirilă, Alina, Dădârlat-Pop, Alexandra, Minciună, Ioan Alexandru, Pop, Dana   +6 more
openaire   +2 more sources

Sex Differences in Wild-Type Transthyretin Amyloidosis: An Analysis from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

, 2022
INTRODUCTION: Wild-type transthyretin amyloidosis (ATTRwt amyloidosis) is a progressive disease resulting from the accumulation of wild-type transthyretin (TTR) amyloid fibrils, and is diagnosed primarily in males.
Campbell, Courtney M., LoRusso, Samantha, Maurer, Mathew S., Campbell, Courtney M, Rapezzi, Claudio, Amass, Leslie, Chapman, Doug, Dispenzieri, Angela, Kristen, Arnt V, Drachman, Brian, Kristen, Arnt V., THAOS investigators, Maurer, Mathew S, Lairez, Olivier, Garcia-Pavia, Pablo, Grogan, Martha, THAOS investigators,   +16 more
core   +2 more sources

Tafamidis for the Treatment of Transthyretin Amyloidosis [PDF]

Future Cardiology, 2019
Transthyretin (TTR) related cardiomyopathy is an underdiagnosed cause of heart failure but is increasingly recognized in various settings - from patients admitted with heart failure to symptomatic aortic stenosis - and is rapidly becoming the most frequent form of systemic amyloidosis.
Lorenzini, M, Elliott, PM
openaire   +3 more sources

Treatment of Acquired Transthyretin Amyloidosis in Domino Liver Transplantation [PDF]

, 2022
BACKGROUND: Domino liver transplantation (DLT) has been commonly used during the last two decades to partly meet the high need for liver transplants.
Konstantinos I. Tsamis, Sarmas, Ioannis, Gillmore, Julian D, Michael Heneghan, Julian D. Gillmore, Spyridon Konitsiotis, Giannopoulos, Sotirios, Mytilinaios, Dimitrios, Ioannis Sarmas, Dimitrios Mytilinaios, Janet A. Gilbertson, Tsamis, Konstantinos I, Gilbertson, Janet A, Heneghan, Michael, Konitsiotis, Spyridon, Sotirios Giannopoulos   +15 more
core   +1 more source

Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy: An Exploratory Analysis of Treatment Effect in Male and Female Patients. [PDF]

Muscle Nerve
This exploratory analysis of data from the NEURO‐TTRansform trial evaluated sex‐specific responses in patients with ATTRv‐PN who had received eplontersen in NEURO‐TTRansform versus a historical placebo. Eplontersen can lead to substantial decreases in percentage serum TTR levels, arrest neuropathy impairment, and improve patient quality of life ...
Waddington Cruz M, Berk JL, Parman Y, Gertz M, Khella S, Weiler M, Kwoh TJ, Pola M, Reicher B, Nåtman J, Dasgupta NR, Wixner J.   +11 more
europepmc   +2 more sources