Repositorio Dspace

Listar Enfermedades Neuromusculares por autor "Dispenzieri, Angela"

Listar Enfermedades Neuromusculares por autor "Dispenzieri, Angela"

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  • A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS) 
    Gentile, Luca; Coelho, Teresa; Dispenzieri, Angela; Conceição, Isabel; Waddington-Cruz, Márcia; Kristen, Arnt; Wixner, Jonas; Diemberger, Igor; Gonzalez-Moreno, Juan; Cariou, Eve; Maurer, Mathew S.; Planté-Bordeneuve, Violaine; Garcia-Pavia, Pablo; Tournev, Ivailo; Gonzalez-Costello, Jose; Gonzalez Duarte, Alejandra; Grogan, Martha; Mazzeo, Anna; THAOS investigators; Barroso, Fabio Adrián (BioMed Central, 2023-11-10)
    Background: Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils ...
  • Characteristics of patients with autonomic dysfunction in the Transthyretin Amyloidosis Outcomes Survey (THAOS) 
    Barroso, Fabio Adrián; Coelho, Teresa; Dispenzieri, Angela; Conceição, Isabel; Waddington Cruz, Marcia; Wixner, Jonas; Maurer, Mathew S.; Rapezzi, Claudio; Planté-Bordeneuve, Violaine; Kristen, Arnt V.; González-Duarte, Alejandra; Chapman, Doug; Stewart, Michelle; Amass, Leslie; THAOS investigators (Taylor & Francis, 2022-09)
    Background: Autonomic dysfunction is common in transthyretin amyloidosis (ATTR amyloidosis), but its frequency, characteristics, and quality-of-life (QoL) impact are not well understood. Methods: The Transthyretin ...
  • Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update 
    Dispenzieri, Angela; Coelho, Teresa; Conceição, Isabel; Waddington Cruz, Marcia; Wixner, Jonas; Kristen, Arnt V.; Rapezzi, Claudio; Planté-Bordeneuve, Violaine; Gonzalez-Moreno, Juan; Maurer, Mathew S.; Grogan, Martha; Chapman, Doug; Amass, Leslie; Barroso, Fabio Adrián; THAOS investigators (BioMed Central, 2022-06-18)
    Background: Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral ...
  • Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey 
    Gonzalez-Moreno, Juan; Dispenzieri, Angela; Grogan, Martha; Coelho, Teresa; Tournev, Ivailo; Waddington-Cruz, Márcia; Wixner, Jonas; Diemberger, Igor; Garcia-Pavia, Pablo; Chapman, Doug; Gupta, Pritam; Glass, Oliver; Amass, Leslie; THAOS investigators; Barroso, Fabio Adrián (Springer, 2023-12-20)
    Introduction: Transthyretin amyloidosis (ATTR amyloidosis) is primarily associated with a cardiac or neurologic phenotype, but a mixed phenotype is increasingly described. Methods: This study describes the mixed phenotype ...
  • Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS) 
    Gentile, Luca; Diemberger, Igor; Plante-Bordeneuve, Violaine; Mazzeo, Anna; Dori, Amir; Luigetti, Marco; Di Paolantonio, Andrea; Dispenzieri, Angela; Grogan, Martha; Waddington Cruz, Marcia; Adams, David; Inamo, Jocelyn; Kristen, Arnt V.; Cirami, Calogero Lino; Chapman, Doug; Gupta, Pritam; Glass, Oliver; Amass, Leslie; Barroso, Fabio Adrián (Public Library of Science, 2024-01-19)
    Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multi-systemic disease with wild-type (ATTRwt) and hereditary (ATTRv) forms. Over 130 variants associated with ATTRv amyloidosis have been identified, although ...

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