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Listar Enfermedades Neuromusculares por fecha de publicación

Listar Enfermedades Neuromusculares por fecha de publicación

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  • 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 ...
  • Bilateral facial palsy with paresthesias, variant of Guillain-Barré syndrome following COVID-19 vaccine: A case series of 9 patients 
    Castiglione, Juan Ignacio; Crespo, Marcos José; Lecchini, L.; Silveira, F.O.; Luis, M.B.; Cotti, N.; Simison, C.J.; Aguirre, Florencia; Piedrabuena, María Agustina; Alonso, R.N.; Azcona, C.L.; Sosa, P.S.; Maldonado, E.; Barroso, Fabio Adrián (Pergamon Press, 2022-07)
    Several cases of Guillain-Barré Syndrome (GBS) associated with COVID-19 vaccination have been reported, including the rare subtype known as Bilateral Facial Palsy with paresthesias (BFP). To date, it is not known whether ...
  • An International Perspective on Preceding Infections in Guillain-Barré Syndrome: The IGOS-1000 Cohort 
    Leonhard, Sonja E.; van der Eijk, Annemiek A.; Andersen, Henning; Antonini, Giovanni; Arends, Samuel; Attarian, Shahram; Barroso, Fabio Adrián; Bateman, Kathleen J.; Batstra, Manou R.; Benedetti, Luana; Van den Berg, Bianca; van den Bergh, Peter; Bürmann, Jan; Busby, Mark; Casasnovas, Carlos; Cornblath, David R.; Davidson, Amy; Doets, Alex Y.; A van Doorn, Pieter; Dornonville de la Cour, Charlotte (Lippincott Williams & Wilkins, 2022-08-18)
    Background and objectives: Infections play a key role in the development of Guillain-Barré syndrome (GBS) and have been associated with specific clinical features and disease severity. The clinical variation of GBS across ...
  • Long-Term Remission With Low-Dose Rituximab in Myasthenia Gravis: A Retrospective Study 
    Castiglione, Juan Ignacio; Rivero, Alberto Daniel; Barroso, Fabio Adrián; Brand, Patricio; Lautre, Andrea Rosana; Kohler, Alejandro Alfredo (Wolters Kluwer Health, 2022-08-31)
    Objetive: Rituximab (RTX) is a therapeutic option, for patients with myasthenia gravis (MG) not responding to conventional immunosuppressive treatment. In this cohort, we evaluated long-term efficacy of RTX in the treatment ...
  • Pseudo One-And-A-Half Syndrome in a Myasthenia Gravis Patient 
    Marrodán, Mariano; Castiglione, Juan Ignacio; Wainberg, Florencia N.; Rivero, Alberto Daniel (Neurological Society of India, 2022-09)
  • Cutaneous amyloid is a biomarker in early ATTRv neuropathy and progresses across disease stages 
    Freeman, Roy; González-Duarte, Alejandra; Barroso, Fabio Adrián; Campagnolo, Marta; Rajan, Sharika; Garcia, Jennifer; Young Kim, Jee; Wang, Ningshan; Orellana, Lucas Gabriel; Gibbons, Christopher (Wiley Periodicals, 2022-09)
    Objective: To determine the sensitivity and specificity of cutaneous amyloid deposition in relation to patient-reported measures in the earliest disease stage of hereditary ATTR amyloidosis (ATTRv). Methods: In a ...
  • 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 ...
  • Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen 
    Coelho, Teresa; Waddington Cruz, Marcia; Chao, Chi-Chao; Parman, Yeşim; Wixner, Jonas; Weiler, Markus; Barroso, Fabio Adrián; Dasgupta, Noel R.; Jung, Shiangtung W.; Schneider, Eugene; Viney, Nicholas J.; Dyck, P. James B.; Ando, Yukio; Gillmore, Julian D.; Khella, Sami; Gertz, Morie; Obici, Laura; Berk, John L. (Springer, 2022-12-16)
    Introduction: Hereditary transthyretin (ATTRv) amyloidosis is a rare, severe, progressive, debilitating, and ultimately fatal disease caused by systemic deposition of transthyretin (TTR) amyloid fibrils. ATTRv amyloidosis ...
  • CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome 
    Al-Hakem, Helle; Doets, Alex Y.; Stino, Amro Maher; Zivkovic, Sasha A.; Andersen, Henning; Willison, Hugh J.; Cornblath, David R.; Gorson, Kenneth C.; Islam, Zhahirul; Mohammad, Quazi Deen; Sindrup, Soren H.; Kusunoki, Susumu; Davidson, Amy; Casasnovas, Carlos; Bateman, Kathleen J.; Miller, James A. L.; van den Berg, Bianca; Verboon, Christine; Roodbol, Joyce; Barroso, Fabio Adrián (Lippincott Williams & Wilkins, 2023-04-19)
    Background and Objectives To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in the International GBS Outcome ...
  • Guillain-Barré Syndrome and COVID-19 Vaccine: A Multicenter Retrospective Study of 46 Cases 
    Castiglione, Juan Ignacio; Crespo, José Manuel; Bendersky, Mariana; Silveira, Facundo Oscar; Lecchini, Lucila; Luis, María Belén; Caiza Zambrano, Francisco; Cotti, Norberto; Simison, Conrado J.; Aguirre, Florencia; Piedrabuena, María Agustina; Alonso, Ricardo Nicolás; Azcona, Carolina Laura; Sosa, Pablo Sebastian; Maldonado, Evangelina; Varela, Francisco José; Bettini, Mariela; Rey, Roberto D.; León Cejas, Luciana; Barroso, Fabio Adrián (Lippincott Williams & Wilkins, 2023-09-01)
    In the context of the global vaccination campaign against COVID-19, several cases of postvaccinal Guillain-Barré syndrome (GBS) were reported. Whether a causal relationship exists between these events has yet to be ...
  • Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy 
    Coelho, Teresa; Marques, Wilson; Dasgupta, Noel R.; Chao, Chi-Chao; Parman, Yesim; Cavalcante França Jr, Marcondes; Guo, Yuh-Cherng; Wixner, Jonas; Ro, Long-Sun; Calandra, Cristian R.; Kowacs, Pedro A.; Berk, John L.; Obici, Laura; Barroso, Fabio Adrián; Weiler, Markus; Conceição, Isabel; Jung, Shiangtung W.; Buchele, Gustavo; Brambatti, Michela; NEURO-TTRansform Investigators (American Medical Association, 2023-09-28)
    Importance: Transthyretin gene silencing is an emerging treatment strategy for hereditary transthyretin (ATTRv) amyloidosis. Objective: To evaluate eplontersen, an investigational ligand-conjugated antisense oligonucleotide, ...
  • 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 ...
  • 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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