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Browsing Enfermedades Neuromusculares.artículos by Issue Date

Browsing Enfermedades Neuromusculares.artículos by Issue Date

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  • 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 ...
  • 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, ...
  • Blood Pressure and Orthostatic Hypotension as Measures of Autonomic Dysfunction in Patients From the Transthyretin Amyloidosis Outcomes Survey (THAOS) 
    González-Duarte, Alejandra; Barroso, Fabio Adrián; Mundayat, Rajiv; Shapiro, Bryan (Elsevier, 2019-10-23)
    Introduction Autonomic dysfunction, an early symptom of transthyretin amyloidosis (ATTR amyloidosis), requires investigations not readily available in many clinics. Although monitoring of orthostatic hypotension (OH) will ...
  • 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 ...
  • Utilidad de la identificación de anticuerpos en neuropatías periféricas, neuronopatías y ganglionopatías: revisión 
    Reisin, Ricardo C.; Salutto, Valeria L.; Aguirre, Florencia; Álvarez, Valeria; Barroso, Fabio Adrián; Bendersky, Mariana; Berardo, Andrés; Bettini, Mariela; Borrelli, Mariano M.; Chaves, Marcelo; Cisneros, Elisa M.; Conti, Eugenia; Crespo, José Manuel; di Egidio, Mariana; Figueredo, María Alejandra; Gargiulo, Gisella; Jáuregui, Agustín; Landriscina, Paula; Cejas, Luciana León; Tillard, Belén; Grupo de Trabajo de Enfermedades Neuromusculares de la Sociedad Neurológica Argentina (Sociedad Argentina de Neurología, 2020-04-04)
    Introducción En los últimos años la identificación de anticuerpos y gammapatías monoclonales ha permitido comprender la fisiopatología y favorecer el diagnóstico y tratamiento de una multiplicidad de neuropatías ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS) 
    Waddington Cruz, Marcia; Wixner, Jonas; Amass, Leslie; Kiszko, Jan; Chapman, Doug; Ando, Yukio; THAOS investigators (Springer, 2021-05-22)
    Introduction: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a clinically heterogeneous disease caused by mutations in the transthyretin (TTR) gene. The most common mutation, Val30Met, can manifest as an early- ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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, ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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, 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 ...
  • 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 ...

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