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Auflistung Enfermedades Neuromusculares.artículos nach Titel

Auflistung Enfermedades Neuromusculares.artículos nach Titel

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  • 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 ...
  • Early data on long-term efficacy and safety of inotersen in patients with hereditary transthyretin amyloidosis: a 2-year update from the open-label extension of the NEURO-TTR trial 
    Brannagan, Thomas H.; Wang, Annabel K.; Coelho, Teresa; Waddington Cruz, Marcia; Polydefkis, Michael J.; Dyck, Peter J.; Plante-Bordeneuve, Violaine; Berk, John L.; Barroso, Fabio Adrián; Merlini, Giampaolo; Conceição, Isabel; Hughes, Steven G.; Kwoh, Jesse; Jung, Shiangtung W.; Guthrie, Spencer; Pollock, Michael; Benson, Merrill D.; Gertz, Morie; NEURO-TTR open-label extension investigators (Wiley, 2020-08)
    Background and purpose: Hereditary transthyretin (hATTR) amyloidosis causes progressive polyneuropathy resulting from transthyretin (TTR) amyloid deposition throughout the body, including the peripheral nerves. The efficacy ...
  • 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 ...
  • 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, ...
  • Feeding difficulties in children and adolescents with spinal muscular atrophy type 2 
    Wadman, Renske I.; de Amicis, Ramona; Battezzati, Alberto; Bertoli, Simona; Davis, Tracey; Main, Marion; Manzur, Adnan; Mastella, Chiara; Munot, Pinki; Imbrigiotta, Nadia; Schottlaender, Lucía V.; Sarkozy, Anna; Trucco, Federica; Baranello, Giovanni; Scoto, Mariacristina; Muntoni, Francesco; Brusa, Chiara (Pergamon Press, 2020-12-19)
    Disease course of feeding difficulties in spinal muscular atrophy type 2 is not well documented. Disease-modifying therapies rapidly change the trajectory of motor function and survival in spinal muscular atrophy, but ...
  • 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 ...
  • HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes 
    Berardo, Andrés; Lornage, Xavière; Johari, Mridul; Evangelista, Teresinha; Cejas, Claudia Patricia; Barroso, Fabio Adrián; Dubrovsky, Alberto; Bui, Mai Thao; Brochier, Guy; Saccoliti, María; Bohm, Johann; Udd, Bjarne; Laporte, Jocelyn; Romero, Norma Beatriz; Taratuto, Ana Lía (Springer, 2019-07-02)
    Autosomal dominant limb girdle muscular dystrophy D3 HNRNPDL-related is a rare dominant myopathy caused by mutations in HNRNPDL. Only three unrelated families have been described worldwide, a Brazilian and a Chinese carrying ...
  • Intravenous immunoglobulin treatment for mild Guillain-Barré syndrome: an international observational study 
    Verboon, Christine; Harbo, Thomas; Cornblath, David R.; Hughes, Richard A. C.; van Doorn, Pieter A.; Lunn, Michael P.; Gorson, Kenneth C.; Barroso, Fabio Adrián; Kuwabara, Satoshi; Galassi, Giuliana; Lehmann, Helmar C.; Kusunoki, Susumu; Reisin, Ricardo C.; Binda, Davide; Cavaletti, Guido; Jacobs, Bart C.; IGOS consortium; GOS consortium (BMJ Publishing Group, 2021-06-08)
    Objective: To compare the disease course in patients with mild Guillain-Barré syndrome (GBS) who were treated with intravenous immunoglobulin (IVIg) or supportive care only. Methods: We selected patients from the ...
  • 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 ...
  • Parasympathetic denervation of the heart: an early sign of symptomatic TTR-FAP 
    Barroso, Fabio Adrián; Badeigts, Agustina; Orellana, Lucas Gabriel; Lautre, Andrea Rosana; Lorefice, Fernando (Taylor & Francis, 2019-07-25)
    Autonomic nerves may become involved in Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP), and autonomic dysfunction is considered a red flag for TTR-FAP Although autonomic symptoms are easy to recognize for clinicians, ...
  • 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 ...
  • Phenotypic Differences of Glu89Gln Genotype in ATTR Amyloidosis From Endemic Loci: Update From THAOS 
    Gentile, Luca; Tournev, Ivailo; Amass, Leslie; Chapman, Doug; Mazzeo, Anna; THAOS investigators (Springer, 2021-06-19)
    Introduction Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, clinically heterogeneous disease with spontaneous (wild-type) and hereditary (ATTRv) forms. The Glu89Gln variant is primarily associated with ...
  • 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; 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 ...
  • 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, ...
  • 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)
  • Risk factors for respiratory failure among hospitalized patients with Guillain-Barré syndrome 
    Maskin, Luis Patricio; Wilken, Miguel; Rodríguez Lucci, Federico; Wisnivesky, J. P.; Barroso, Fabio Adrián; Wainsztein, Néstor Adrián (Elsevier, 2021-05-30)
    Background: Guillain-Barré syndrome (GBS) is an acute inflammatory polyneuropathy that can lead to respiratory failure. In this study, we evaluate early clinical risk factors for respiratory failure at the time of hospital ...
  • Síndrome miasteniforme de Lambert-Eaton 
    Hernández, Micaela Anahí; Kohler, Alejandro Alfredo; Marrodán, Mariano; Lautre, Andrea Rosana; Brand, Patricio; Nogués, Martín; Barroso, Fabio Adrián (Revista De Neurología, 2021-08-01)
    Introducción. El síndrome miasteniforme de Lambert-Eaton (LEMS) es una patología paraneoplásica (T-LEMS) o idiopática autoinmunitaria (NT-LEMS) ocasionada por autoanticuerpos contra los canales de calcio dependientes del ...
  • Terapias inmunomoduladoras e inmunosupresoras en polineuropatía desmielinizante inflamatoria crónica refractaria. Revisión de la literatura 
    Zambrano, Darío; Alessandro, Lucas; Barroso, Fabio Adrián (Elsevier, 2021-05-19)
    Introducción La polineuropatía desmielinizante inflamatoria crónica (CIDP) se define como una neuropatía inmunomediada con recaídas y remisiones o un curso progresivo en el tiempo superior a 2 meses. En la mayoría de los ...
  • Transverse Myelitis in Systemic Lupus Erythematosus: Clinical Features and Prognostic Factors in a Large Cohort of Latin American Patients. 
    Chiganer, Edson Hernán; Lessa, Carmen Flora; Di Pace, José Luis; Perassolo, Mónica Beatriz; Carnero Contentti, Edgar; Alessandro, Lucas; Correale, Jorge; Farfan, María Fernanda; Galiana, Graciana Lourdes; Benavides, Marvin Sánchez; Pacello, Franco; Stagno, Mauro; Cardozo, Analía; Cantero, María Belén Nacimiento; Elizaur López, Juan Gabriel; Delgadillo, Pedro Daniel; Melgarejo, Patricia; Acosta Colman, Isabel; Vázquez Báez, Marcos Aurelio; Correa Díaz, Edgar Patricio; Jácome Sánchez, Elisa Carolina; Linares, Magaly Alva; Zamora Tehozol, Erick Adrian; Fragoso-Loyo, Hilda Esther; Quintanilla-González, Lauro; Batún-Garrido, José Antonio de Jesús; Sato, Emilia Inoue; do Reis-Neto, Edgard Torres; Carreño Nigro, María Angela; Hryb, Javier Pablo (Lippincott Williams & Wilkins, 2020-02-05)
    Background: Acute transverse myelitis (ATM) is an infrequent but severe complication of systemic lupus erythematosus (SLE). The purpose of study was to describe clinical features and prognostic factors of patients with ...
  • 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 ...

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