Search Results - "Rodriguez de Rivera, Francisco Javier"

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study by Reetz, Kathrin, MD, Dogan, Imis, PhD, Hilgers, Ralf-Dieter, Prof, Giunti, Paola, MD, Mariotti, Caterina, MD, Durr, Alexandra, MD, Boesch, Sylvia, MD, Klopstock, Thomas, MD, de Rivera, Francisco Javier Rodriguez, MD, Schöls, Ludger, Prof, Klockgether, Thomas, Prof, Bürk, Katrin, MD, Rai, Myriam, PhD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof

“…Summary Background The European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) is a prospective international registry investigating the…”
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Guillain-Barré syndrome: natural history and prognostic factors: a retrospective review of 106 cases by González-Suárez, Inés, Sanz-Gallego, Irene, Rodríguez de Rivera, Francisco Javier, Arpa, Javier

“…Guillain-Barre syndrome (GBS) is characterized by acute onset and progressive course, and is usually associated with a good prognosis. However, there are forms…”
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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia by Dols-Icardo, Oriol, García-Redondo, Alberto, Rojas-García, Ricard, Sánchez-Valle, Raquel, Noguera, Aina, Gómez-Tortosa, Estrella, Pastor, Pau, Hernández, Isabel, Esteban-Pérez, Jesús, Suárez-Calvet, Marc, Antón-Aguirre, Sofía, Amer, Guillermo, Ortega-Cubero, Sara, Blesa, Rafael, Fortea, Juan, Alcolea, Daniel, Capdevila, Aura, Antonell, Anna, Lladó, Albert, Muñoz-Blanco, José Luís, Mora, Jesús S, Galán-Dávila, Lucía, Rodríguez De Rivera, Francisco Javier, Lleó, Alberto, Clarimón, Jordi

“…Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal…”
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Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide by García-Redondo, Alberto, Dols-Icardo, Oriol, Rojas-García, Ricard, Esteban-Pérez, Jesús, Cordero-Vázquez, Pilar, Muñoz-Blanco, José Luis, Catalina, Irene, González-Muñoz, Miguel, Varona, Luis, Sarasola, Esther, Povedano, Monica, Sevilla, Teresa, Guerrero, Antonio, Pardo, Julio, de Munain, Adolfo López, Márquez-Infante, Celedonio, de Rivera, Francisco Javier Rodríguez, Pastor, Pau, Jericó, Ivonne, de Arcaya, Amaya Álvarez, Mora, Jesús S., Clarimón, Jordi, Gonzalo-Martínez, Juan Francisco, Juárez-Rufián, Alexandra, Atencia, Gabriela, Jiménez-Bautista, Rosario, Morán, Yolanda, Mascías, Javier, Hernández-Barral, María, Kapetanovic, Solange, García-Barcina, María, Alcalá, Carmen, Vela, Álvaro, Ramírez-Ramos, Concepción, Galán, Lucía, Pérez-Tur, Jordi, Quintáns, Beatriz, Sobrido, M Jesús, Fernández-Torrón, Roberto, Poza, Juan José, Gorostidi, Ana, Paradas, Carmen, Villoslada, Pablo, Larrodé, Pilar, Capablo, José Luis, Pascual-Calvet, Jordi, Goñi, Miguel, Morgado, Yolanda, Guitart, Miriam, Moreno-Laguna, Sira, Rueda, Almudena, Martín-Estefanía, Carlos, Cemillán, Carlos, Blesa, Rafael, Lleó, Alberto

“…ABSTRACT A hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) can cause amyotrophic lateral sclerosis (ALS) and/or frontotemporal…”
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Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study by Reetz, Kathrin, Dogan, Imis, Hilgers, Ralf-Dieter, Giunti, Paola, Parkinson, Michael H, Mariotti, Caterina, Nanetti, Lorenzo, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera Garrido, Francisco Javier, Rummey, Christian, Schöls, Ludger, Hayer, Stefanie N, Klockgether, Thomas, Giordano, Ilaria, Didszun, Claire, Rai, Myriam, Pandolfo, Massimo, Schulz, Jörg B, Labrum, Robyn, Thomas-Black, Gilbert, Manso, Katarina, Solanky, Nita, Gellera, Cinzia, Mongelli, Alessia, Castaldo, Anna, Fichera, Mario, Palau, Francesc, O'Callaghan, Mar, Biet, Marie, Monin, Marie Lorraine, Eigentler, Andreas, Indelicato, Elisabetta, Amprosi, Matthias, Radelfahr, Florentine, Bischoff, Almut T., Holtbernd, Florian, Brcina, Nikolina, Hohenfeld, Christian, Koutsis, Georgios, Breza, Marianthi, Bertini, Enrico, Vasco, Gessica

“…The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess…”
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Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia by Pandolfo, Massimo, Reetz, Kathrin, Darling, Alejandra, Rodriguez de Rivera, Francisco Javier, Henry, Pierre-Gilles, Joers, James, Lenglet, Christophe, Adanyeguh, Isaac, Deelchand, Dinesh, Mochel, Fanny, Pousset, Françoise, Pascual, Sílvia, van den Eede, Delphine, Martin-Ugarte, Itziar, Vilà-Brau, Anna, Mantilla, Adriana, Pascual, María, Martinell, Marc, Meya, Uwe, Durr, Alexandra

“…Background and Objectives Friedreich ataxia (FRDA) is an autosomal recessive ataxia with no approved treatments. Leriglitazone is a selective peroxisome…”
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Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreichʼs Ataxia Consortium for Translational Studies (EFACTS) by Reetz, Kathrin, Dogan, Imis, Hohenfeld, Christian, Didszun, Claire, Giunti, Paola, Mariotti, Caterina, Durr, Alexandra, Boesch, Sylvia, Klopstock, Thomas, Rodríguez de Rivera Garrido, Francisco Javier, Schöls, Ludger, Giordano, Ilaria, Bürk, Katrin, Pandolfo, Massimo, Schulz, Jörg B

“…OBJECTIVETo provide a systematic evaluation of the broad clinical variability in Friedreich ataxia (FRDA), a multisystem disorder presenting mainly with…”
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Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset by Porcu, Luca, Fichera, Mario, Nanetti, Lorenzo, Rulli, Eliana, Giunti, Paola, Parkinson, Michael H., Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Indelicato, Elisabetta, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera, Francisco Javier, Schöls, Ludger, Fleszar, Zofia, Giordano, Ilaria, Didszun, Claire, Castaldo, Anna, Rai, Myriam, Klockgether, Thomas, Pandolfo, Massimo, Schulz, Jörg B., Reetz, Kathrin, Mariotti, Caterina

“…BackgroundThe Scale for Assessment and Rating of Ataxia (SARA) is widely used in different types of ataxias and has been chosen as the primary outcome measure…”
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Prediction of the disease course in Friedreich ataxia by Hohenfeld, Christian, Terstiege, Ulrich, Dogan, Imis, Giunti, Paola, Parkinson, Michael H., Mariotti, Caterina, Nanetti, Lorenzo, Fichera, Mario, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera Garrido, Francisco Javier, Schöls, Ludger, Hayer, Stefanie N., Klockgether, Thomas, Giordano, Ilaria, Didszun, Claire, Rai, Myriam, Pandolfo, Massimo, Rauhut, Holger, Schulz, Jörg B., Reetz, Kathrin

“…We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich…”
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Serum glutamate decarboxylase antibodies and neurological disorders: when to suspect their association? by Lacruz Ballester, Laura, Fernandez-Fournier, Mireya, Puertas Muñoz, Inmaculada, Rodriguez Fraga, Olaia, Lastras Fernandez-Escandon, Clara, Rodriguez de Rivera Garrido, Francisco Javier, Alba Suarez, Elda Maria, Tallon Barranco, Antonio

“…Objectives To explore different neurological manifestations with suspicion of being associated to serum glutamate decarboxylase antibodies (GAD-Abs) in order…”
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Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA) by Reetz, Kathrin, Hilgers, Ralf-Dieter, Isfort, Susanne, Dohmen, Marc, Didszun, Claire, Fedosov, Kathrin, Kistermann, Jennifer, Mariotti, Caterina, Durr, Alexandra, Boesch, Sylvia, Klopstock, Thomas, Rodríguez de Rivera Garrido, Francisco Javier, Schöls, Ludger, Klockgether, Thomas, Pandolfo, Massimo, Korinthenberg, Rudolf, Lavin, Philip, Molenberghs, Geert, Libri, Vincenzo, Giunti, Paola, Festenstein, Richard, Schulz, Jörg B

“…Currently, no treatment that delays with the progression of Friedreich ataxia is available. In the majority of patients Friedreich ataxia is caused by…”
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Rheumatoid Meningitis Mimicking Progressive Supranuclear Palsy by Aguilar-Amat, Maria Jose, Abenza-Abildúa, Maria Jose, Vivancos, Francisco, Rodríguez de Rivera, Francisco Javier, Morales-Bastos, Carmen, Gandía-Gonzalez, Maria Luisa, Pérez-Zamarrón, Alvaro, Arpa, Javier

“…INTRODUCTIONRheumatoid meningitis is an uncommon manifestation of longstanding rheumatoid arthritis and few cases have been described. The clinical…”
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NfL and pNfH are increased in Friedreich’s ataxia by Hayer, Stefanie Nicole, Liepelt, Inga, Barro, Christian, Wilke, Carlo, Kuhle, Jens, Martus, Peter, Schöls, Ludger

“…Objective To assess neurofilaments as neurodegenerative biomarkers in serum of patients with Friedreich’s ataxia. Methods Single molecule array measurements of…”
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Randomized phase 2 study of FcRn antagonist efgartigimod in generalized myasthenia gravis by Howard, James F, Bril, Vera, Burns, Ted M, Mantegazza, Renato, Bilinska, Malgorzata, Szczudlik, Andrzej, Beydoun, Said, Garrido, Francisco Javier Rodriguez De Rivera, Piehl, Fredrik, Rottoli, Mariarosa, Van Damme, Philip, Vu, Tuan, Evoli, Amelia, Freimer, Miriam, Mozaffar, Tahseen, Ward, E Sally, Dreier, Torsten, Ulrichts, Peter, Verschueren, Katrien, Guglietta, Antonio, de Haard, Hans, Leupin, Nicolas, Verschuuren, Jan J.G.M

“…OBJECTIVETo investigate safety and explore efficacy of efgartigimod (ARGX-113), an anti-neonatal Fc receptor immunoglobulin G1 Fc fragment, in patients with…”
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Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES) by Pandolfo, Massimo, Reetz, Kathrin, Darling, Alejandra, Rodriguez de Rivera, Francisco Javier, Henry, Pierre-Gilles, Joers, James, Lenglet, Christophe, Adanyeguh, Isaac, Deelchand, Dinesh, Mochel, Fanny, Pousset, Françoise, Pascual, Sílvia, Van den Eede, Delphine, Martin-Ugarte, Itziar, Vilà-Brau, Anna, Mantilla, Adriana, Pascual, María, Martinell, Marc, Meya, Uwe, Durr, Alexandra

“…Friedreich ataxia (FRDA) is an autosomal recessive ataxia with no approved treatments. Leriglitazone is a selective peroxisome proliferator-activated receptor…”
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Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study by De Castro-Orós, Isabel, Irún, Pilar, Cebolla, Jorge Javier, Rodriguez-Sureda, Victor, Mallén, Miguel, Pueyo, María Jesús, Mozas, Pilar, Dominguez, Carmen, Pocoví, Miguel

“…Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis…”
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Hipertensión intracraneal benigna. Antecedentes, clínica y tratamiento en una serie de 41 pacientes by Rodríguez de Rivera Garrido, Francisco Javier, Martínez Sánchez, Patricia, Ojeda Ruiz de Luna, Joaquín, Arpa Gutiérrez, Fco. Javier, Barreiro Tella, Pablo

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Analysis of the C 9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide by García-Redondo, Alberto, Dols-Icardo, Oriol, Rojas-García, Ricard, Esteban-Pérez, Jesús, Cordero-Vázquez, Pilar, Muñoz-Blanco, José Luis, Catalina, Irene, González-Muñoz, Miguel, Varona, Luis, Sarasola, Esther, Povedano, Monica, Sevilla, Teresa, Guerrero, Antonio, Pardo, Julio, de Munain, Adolfo López, Márquez-Infante, Celedonio, de Rivera, Francisco Javier Rodríguez, Pastor, Pau, Jericó, Ivonne, de Arcaya, Amaya Álvarez, Mora, Jesús S., Clarimón, Jordi, Gonzalo-Martínez, Juan Francisco, Juárez-Rufián, Alexandra, Atencia, Gabriela, Jiménez-Bautista, Rosario, Morán, Yolanda, Mascías, Javier, Hernández-Barral, María, Kapetanovic, Solange, García-Barcina, María, Alcalá, Carmen, Vela, Álvaro, Ramírez-Ramos, Concepción, Galán, Lucía, Pérez-Tur, Jordi, Quintáns, Beatriz, Sobrido, M Jesús, Fernández-Torrón, Roberto, Poza, Juan José, Gorostidi, Ana, Paradas, Carmen, Villoslada, Pablo, Larrodé, Pilar, Capablo, José Luis, Pascual-Calvet, Jordi, Goñi, Miguel, Morgado, Yolanda, Guitart, Miriam, Moreno-Laguna, Sira, Rueda, Almudena, Martín-Estefanía, Carlos, Cemillán, Carlos, Blesa, Rafael, Lleó, Alberto

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