• Duchenne muscular distrophy in Tafí del Valle, Tucumán, Argentina. 

  Sarandría, María Eugenia; Rey, Roberto; De Rosa, Rodrigo; Corbalán, Vanesa; Mesa, Lilia (Fundación Revista Medicina (Buenos Aires), 2024)

  Introduction: Duchenne muscular dystrophy (DMD) is an inherited, X-linked neuromuscular disorder with a global cumulative prevalence of 7.1 cases every 100 000 males. A relationship between consanguinity and DMD has ...
• Eplontersen in Hereditary ATTR-polyneuropathy: Week 66 Final Analysis of the Phase 3 NEURO-TTRansform Study 

  Khella, Sami; Marques, Wilson; Chao, Chi-Chao; Yesim Parman, Fatma; Franca, Marcondes C.; Guo, Yuh-Cherng; Ro, Long-Sun; Calandra, Cristian; Kowacs, Pedro A.; Berk, John L.; Piera Obici, Laura; Barroso, Fabio Adrián; Conceição, Isabel; Schneider, Eugene; Viney, Nicholas J.; Dyck, P. James B.; Waddington Cruz, Marcia; Coelho, Teresa (American Academy of Neurology, 2023-04-24)

  Background ATTRv-PN is a rare, progressive, and debilitating disease caused by accumulation of amyloid fibrils composed of transthyretin (TTR) protein in multiple organ systems. Eplontersen, a ligand-conjugated antisense ...
• 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, Marcia; Kristen, Arnt V.; 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, Marcia; 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 ...
• 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; 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, Yeşim; 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, ...
• 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 ...
• Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values 

  Arends, Samuel; Drenthen, Judith; van den Bergh, Peter; Franssen, Hessel; Hadden, Robert D.M.; Islam, Badrul; Kuwabara, Satoshi; Reisin, Ricardo C.; Shahrizaila, Nortina; Amino, Hiroshi; Antonini, Giovanni; Attarian, Shahram; Balducci, Claudia; Barroso, Fabio Adrián; IGOS consortium (Elsevier, 2022-01-13)

  Objective: To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barré syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS). Methods: Prospectively collected ...
• 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 ...
• 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 ...
• 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, Lucila; Silveira, F.O.; Luis, María Belén; Cotti, Norberto; Simison, Conrado J.; Aguirre, Florencia; Piedrabuena, María Agustina; Alonso, R. N.; Azcona, Carolina Laura; Sosa, Pablo Sebastian; Maldonado, Evangelina; 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 ...
• Practice guideline for the treatment of familial amyloid polyneuropathy 

  Carretero, Marcelina; Sáez, María S.; Posadas Martínez, María L.; Aguirre, María A.; Sorroche, Patricia; Negro, Agustina; Calandra, Cristian R.; Salutto, Valeria L.; Lautre, Andrea Rosana; Conti, Eugenia; León Cejas, Luciana; Reisin, Ricardo C.; Nucifora, Elsa M.; Rugiero, Marcelo (Fundación Revista Medicina (Buenos Aires), 2022)

  This clinical practice guideline for the treatment of familial amyloid polyneuropathy is based on the best available evidence of clinical effectiveness. A list of questions was generated with a PICO format focused on the ...
• 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 ...
• 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 ...
• 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 ...
• 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 ...
• Treatment-related fluctuations in Guillain-Barré syndrome​: clinical features and predictors of recurrence 

  Alessandro, Lucas; Castiglione, Juan Ignacio; Brand, Patricio; Bruno, Verónica; Barroso, Fabio Adrián (Associacao Arquivos De Neuro-Psiquitria Dr Oswaldo Lange, 2022-05)

  Background: A treatment-related fluctuation (TRF) in a patient with Guillain-Barré syndrome (GBS) is defined as clinical deterioration within two months of symptom onset following previous stabilization or improvements ...
• Predicting Outcome in Guillain-Barré Syndrome: International Validation of the Modified Erasmus GBS Outcome Score 

  Doets, Alex Y.; Lingsma, Hester F.; Walgaard, Christa; Islam, Badrul; Papri, Nowshin; Davidson, Amy; Yamagishi, Yuko; Kusunoki, Susumu; Dimachkie, Mazen M.; Waheed, Waqar; Kolb, Noah; Islam, Zhahirul; Deen Mohammad, Quazi; Harbo, Thomas; Sindrup, Soren H.; Chavada, Govindsinh; Willison, Hugh J.; Casasnovas, Carlos; Barroso, Fabio Adrián; IGOS consortium (Lippincott Williams & Wilkins, 2021-12-22)

  Background and objectives: The clinical course and outcome of the Guillain-Barré syndrome (GBS) are diverse and vary among regions. The modified Erasmus GBS Outcome Score (mEGOS), developed with data from Dutch patients, ...
• 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 ...

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