Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis von García-Redondo, A., Bustos, F., Juan Y Seva, B., Del Hoyo, P., Jiménez, S., Campos, Y., Martín, M. A., Rubio, J.C., Cañadillas, F., Arenas, J., Esteban, J.

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Facial Onset Sensory and Motor Neuronopathy (FOSMN Syndrome) with abnormal brainstem neuroimaging: a case report von Muñoz-Blanco, J, Alemán-Gómez, Y, Traba-López, A, Catalina-Álvarez, I, Borrego, P, Fernández-García, M.P, García-Redondo, A, Desco, M

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways von Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J. M. B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.

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Clinical and neuroimaging features of familial C9FTD/ALS: A case report von Pardo-Parrado, M, Clarimón, J, García-Redondo, A, Cebrián, E, Jiménez-Martínez, I, Cortés, J, Aguiar, P, Castiñeiras, J.A, García-Sobrino, T, Quintáns, B, Sobrido, M.J

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20770. ESTUDIO COMPARATIVO EN LAS PRÁCTICAS DE ASESORAMIENTO GENÉTICO EN ELA DE INDIVIDUOS PRESINTOMÁTICOS ENTRE ESPAÑA Y EL RESTO DE EUROPA von Bertrán Recasens, B., Mas Molina, N., Vidal Notari, S., Povedano Panadés, M., Esteban Pérez, J., Mascías Cadavid, J., Varona Franco, L., Pardo Fernández, J., López de Munain, A., García Redondo, A., Vázquez Costa, J., Jiménez Balado, J., Rubio Pérez, M.

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Serum levels of coenzyme Q10 in patients with Alzheimer's disease von DE BUSTOS, F, MOLINA, J. A, ENRIQUEZ-DE-SALAMANCA, R, ARENAS, J, JIMENEZ-JIMENEZ, F. J, GARCIA-REDONDO, A, GOMEZ-ESCALONILLA, C, PORTA-ETESSAM, J, BERBEL, A, ZURDO, M, BARCENILLA, B, PARRILLA, G

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Serum levels of coenzyme Q10 in patients with Parkinson's disease von JIMENEZ-JIMENEZ, F. J, MOLINA, J. A, ENRIQUEZ DE SALAMANCA, R, ARENAS, J, DE BUSTOS, F, GARCIA-REDONDO, A, GOMEZ-ESCALONILLA, C, MARTINEZ-SALIO, A, BERBEL, A, CAMACHO, A, ZURDO, M, BARCENILLA, B

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Mutación SOD1-N19S en una familia de esclerosis lateral amiotrófica von Vela, A, Galán, L, Valencia, C, de la Torre, P, Cuadrado, M.L, Esteban, J, Guerrero, A, García-Redondo, A, Matías-Guiu, J

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Wilms Tumor 1b Expression Defines a Pro-regenerative Macrophage Subtype and Is Required for Organ Regeneration in the Zebrafish von Sanz-Morejón, Andrés, García-Redondo, Ana B., Reuter, Hanna, Marques, Inês J., Bates, Thomas, Galardi-Castilla, María, Große, Andreas, Manig, Steffi, Langa, Xavier, Ernst, Alexander, Piragyte, Indre, Botos, Marius-Alexandru, González-Rosa, Juan Manuel, Ruiz-Ortega, Marta, Briones, Ana M., Salaices, Mercedes, Englert, Christoph, Mercader, Nadia

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Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort von Carbonell-Corvillo, P., Rivas, E., Cabrera, M., García-Redondo, A., Fernández, A., Paradas, C.

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Early onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA Cytochrome C oxidase II gene von Campos, Yolanda, García-Redondo, Alberto, Fernández-Moreno, Miguel A., Martínez-Pardo, Mercedes, Goda, Guillermo, Rubio, Juan C., Martín, Miguel A., Del Hoyo, Pilar, Cabello, Ana, Bornstein, Belen, Garesse, Rafael, Arenas, Joaquín

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Prevalence of erectile dysfunction in Spanish primary care setting and its association with cardiovascular risk factors and cardiovascular diseases. SIMETAP-ED study von Ruiz-García, Antonio, Arranz-Martínez, Ezequiel, Cabrera-Vélez, Roberto, Palacios-Martínez, David, Rivera-Teijido, Montserrat, García-Álvarez, Juan Carlos, Morales-Cobos, Luis Enrique, Moreno-Fernández, Juan Carlos, García-Fernández, María Eugenia, Peña-Antón, Nuria, Díez-Pérez, Maria Cruz, Montero-Costa, Alejandra, Lorenzo-Borda, María Soledad, García-Granado, María Dolores, Casaseca-Calvo, Teresa Fátima, Cique-Herráinz, Juan A, García-Villasur, María Paloma, Marañón-Henrich, Nuria, Zarzuelo-Martín, Nieves, Baltuille-Aller, María Camino, Arribas-Álvaro, Pilar, Macho-Barrio, Ana Isabel, Ribot-Catalá, Carlos, Capitán-Caldas, Mercedes, Ciria-de-Pablo, Cristina, Sanz-Velasco, Carmelina, Vargas-Machuca-Cabañero, Concepción, Simonaggio-Stancampiano, Paula, Cabello-Igual, María Pilar, Sarria-Sánchez, María Teresa

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SOD1-N196 mutation in a family with amyotrophic lateral sclerosis von Vela, A., Galán, L., Valencia, C., de la Torre, P., Cuadrado, L., Esteban, J., Guerrero, A., García-Redondo, A., Matías-Guiu, J.

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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia von 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

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Serum levels of coenzyme Q10 in patients with amyotrophic lateral sclerosis von MOLINA, J. A, DE BUSTOS, F, INDURAIN, G. Ruiz, ARENAS, J, JIMENEZ-JIMENEZ, F. J, GOMEZ-ESCALONILLA, C, GARCIA-REDONDO, A, ESTEBAN, J, GUERRERO-SOLA, A, DEL HOYO, P, MARTINEZ-SALIO, A, RAMIREZ-RAMOS, C

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EFFECTS OF ANTIHYPERTENSIVE EGG-DERIVED PEPTIDES WITH IN VITRO ACE-INHIBITORY ACTIVITY IN AORTA FROM RATS: PP.24.483 von Miguel, M, Galán, M, García-Redondo, AB, Roque, FR, López-Fandiño, R, Salaices, M

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Gremlin Activates the Smad Pathway Linked to Epithelial Mesenchymal Transdifferentiation in Cultured Tubular Epithelial Cells von Rodrigues-Diez, Raquel, Rodrigues-Diez, Raúl R., Lavoz, Carolina, Carvajal, Gisselle, Droguett, Alejandra, Garcia-Redondo, Ana B., Rodriguez, Isabel, Arduán, Alberto Ortiz, Egido, Jesus, Mezzano, Sergio, Ruiz-Ortega, Marta

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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function von De Majo, M, Topp, SD, Smith, BN, Nishimura, AL, Chen, HJ, Soragia Gkazi, A, Wong, CH, Vance, C, Bass, F, Ten Ashbroek, ALMA, Kenna, KP, Ticozzi, N, Garcia Redondo, A, Esteban-Perez, J, Tiloca, C, Verde, F, Duga, S, Morrison, KE, Shaw, PJ, Kirby, J, Turner, MR, Talbot, K, Hardiman, O, Glass, JD, De Belleroche, JS, Gellera, C, Ratti, A, Al-Chalabi, A, Silani, V, Landers, JE, Shaw, C

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Characterizing SOD1 mutations in Spain : The impact of genotype, age and sex in the natural history of the disease von Vázquez-Costa, J.F, Borrego-Hernández, D, Paradas, C, Gómez-Caravaca, M.T, Rojas-Garcia, Ricardo, Varona, L, Povedano, Mónica, García-Sobrino, Tania, Jericó-Pascual, Ivonne, Gutiérrez, A, Riancho, J, Turon-Sans, Janina, Assialioui, Abdelilah, Pérez-Tur, J, Sevilla, T, Esteban Pérez, J, García-Redondo, A, López, A.A, Calabria, M.D, Díaz-Marín, C, Caravaca, E.F, Dávila, L.G, Martínez, A.G, Gimenez-Muñoz, Á, Sola, A.G, Cadavid, J.M, Mora Pardina, J.S, Blanco, J.L.M, Juntas-Morales, R, Morgado, Y, Pardo, J, Valladares, A, Vilar-Ventura, R.M, Universitat Autònoma de Barcelona

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Targeted genetic screen in Amyotrophic lateral sclerosis reveals novel genetic variants with synergistic effect on clinical phenotype von Cooper-Knock, Johnathan, Robins, Henry, Niedermoser, Isabell, Wyles, Matthew, Heath, Paul R., Higginbottom, Adrian, Walsh, Theresa, Kazoka, Mbombe, Ince, Paul G., Hautbergue, Guillaume M., McDermott, Christopher J., Kirby, Janine, Shaw, Pamela J., Project MinE ALS Sequencing Consortium, de Carvalho, Mamede, Pinto, Susana

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