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Neuregulin-1 promotes functional improvement by enhancing collateral sprouting in SOD1G93A ALS mice and after partial muscle denervation
Mancuso, Renzo, Martínez-Muriana, Anna, Leiva, Tatiana, Gregorio, David, Ariza, Lorena, Morell, Marta, Esteban-Pérez, Jesús, García-Redondo, Alberto, Calvo, Ana C., Atencia-Cibreiro, Gabriela, Corfas, Gabriel, Osta, Rosario, Bosch, Assumpció, Navarro, Xavier
Published in Neurobiology of disease (01.11.2016)
Published in Neurobiology of disease (01.11.2016)
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Journal Article
Genetic Biomarkers for ALS Disease in Transgenic SOD1G93A Mice
Calvo, Ana C., Manzano, Raquel, Atencia-Cibreiro, Gabriela, Oliván, Sara, Muñoz, María J., Zaragoza, Pilar, Cordero-Vázquez, Pilar, Esteban-Pérez, Jesús, García-Redondo, Alberto, Osta, Rosario
Published in PloS one (07.03.2012)
Published in PloS one (07.03.2012)
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Journal Article
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population
Borrego-Hernández, Daniel, Vázquez-Costa, Juan Francisco, Domínguez-Rubio, Raúl, Expósito-Blázquez, Laura, Aller, Elena, Padró-Miquel, Ariadna, García-Casanova, Pilar, Colomina, María J., Martín-Arriscado, Cristina, Osta, Rosario, Cordero-Vázquez, Pilar, Esteban-Pérez, Jesús, Povedano-Panadés, Mónica, García-Redondo, Alberto
Published in Biomedicines (02.02.2024)
Published in Biomedicines (02.02.2024)
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Journal Article
Dimensionality reduction and recurrence analysis reveal hidden structures of striatal pathological states
Serrano-Reyes, Miguel, Pérez-Ortega, Jesús Esteban, García-Vilchis, Brisa, Laville, Antonio, Ortega, Aidán, Galarraga, Elvira, Bargas, Jose
Published in Frontiers in systems neuroscience (01.12.2022)
Published in Frontiers in systems neuroscience (01.12.2022)
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Journal Article
Genetic biomarkers for ALS disease in transgenic SOD1(G93A) mice
Calvo, Ana C, Manzano, Raquel, Atencia-Cibreiro, Gabriela, Oliván, Sara, Muñoz, María J, Zaragoza, Pilar, Cordero-Vázquez, Pilar, Esteban-Pérez, Jesús, García-Redondo, Alberto, Osta, Rosario
Published in PloS one (2012)
Published in PloS one (2012)
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Journal Article
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation
De Fuenmayor-Fernández De La Hoz, Carlos Pablo, Domínguez-González, Cristina, Gonzalo-Martínez, Juan Francisco, Esteban-Pérez, Jesús, Fernández-Marmiesse, Ana, Arenas, Joaquín, Martín, Miguel A., Hernández-Laín, Aurelio
Published in Muscle & nerve (01.10.2016)
Published in Muscle & nerve (01.10.2016)
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Journal Article
Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease
Vázquez‐Costa, Juan F., Borrego‐Hernández, Daniel, Paradas, Carmen, Gómez‐Caravaca, María Teresa, Rojas‐Garcia, Ricardo, Varona, Luis, Povedano, Mónica, García‐Sobrino, Tania, Jericó Pascual, Ivonne, Gutiérrez, Antonio, Riancho, Javier, Turon‐Sans, Janina, Assialioui, Abdelilah, Pérez‐Tur, Jordi, Sevilla, Teresa, Esteban Pérez, Jesús, García‐Redondo, Alberto, López, Alberto Andrés, Calabria, M. Dolores, Díaz‐Marín, Carmen, Caravaca, Eva Fages, Dávila, Lucía Galán, Martínez, Alberto García, Gimenez‐Muñoz, Álvaro, Sola, Antonio Guerrero, Cadavid, Javier Mascías, Mora Pardina, Jesús S., Blanco, José Luis Muñoz, Juntas‐Morales, Raúl, Morgado, Yolanda, Pardo, Julio, Valladares, Amador, Vilar‐Ventura, Rosa Maria
Published in European journal of neurology (01.04.2023)
Published in European journal of neurology (01.04.2023)
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Journal Article
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations
Panadés-de Oliveira, Luísa, Rodríguez-López, Claudia, Cantero Montenegro, Diana, Marcos Toledano, María del Mar, Fernández-Marmiesse, Ana, Esteban Pérez, Jesús, Hernández Lain, Aurelio, Domínguez-González, Cristina
Published in Journal of neurology (01.04.2019)
Published in Journal of neurology (01.04.2019)
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Journal Article
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Kenna, Kevin P, van Doormaal, Perry T C, Dekker, Annelot M, Ticozzi, Nicola, Kenna, Brendan J, Diekstra, Frank P, van Rheenen, Wouter, van Eijk, Kristel R, Jones, Ashley R, Keagle, Pamela, Shatunov, Aleksey, Sproviero, William, Smith, Bradley N, van Es, Michael A, Topp, Simon D, Kenna, Aoife, Miller, Jack W, Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J, de Visser, Marianne, ten Asbroek, Anneloor L M A, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Muñoz-Blanco, José Luis, Strom, Tim M, Meitinger, Thomas, Morrison, Karen E, Lauria, Giuseppe, Williams, Kelly L, Leigh, P Nigel, Nicholson, Garth A, Blair, Ian P, Leblond, Claire S, Dion, Patrick A, Rouleau, Guy A, Pall, Hardev, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Taroni, Franco, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Esteban-Pérez, Jesús, García-Redondo, Alberto, Van Damme, Phillip, Robberecht, Wim, Chio, Adriano, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D, Mora, Jesús S, Basak, Nazli A, Hardiman, Orla, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Brown, Robert H, Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E, van den Berg, Leonard H, Veldink, Jan H, Landers, John E
Published in Nature genetics (01.09.2016)
Published in Nature genetics (01.09.2016)
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Journal Article
Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon, Kenna, Kevin P., Scotter, Emma L., Kost, Jason, Keagle, Pamela, Miller, Jack W., Calini, Daniela, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Tiloca, Cinzia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Colombrita, Claudia, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Simpson, Michael, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Diekstra, Frank P., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Morrison, Karen E., Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Dion, Patrick A., Leblond, Claire S., Rouleau, Guy A., Hardiman, Orla, Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E.
Published in Neuron (Cambridge, Mass.) (22.10.2014)
Published in Neuron (Cambridge, Mass.) (22.10.2014)
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Journal Article
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
Williams, Kelly L., Topp, Simon, Yang, Shu, Smith, Bradley, Fifita, Jennifer A., Warraich, Sadaf T., Zhang, Katharine Y., Farrawell, Natalie, Vance, Caroline, Hu, Xun, Chesi, Alessandra, Leblond, Claire S., Lee, Albert, Rayner, Stephanie L., Sundaramoorthy, Vinod, Dobson-Stone, Carol, Molloy, Mark P., van Blitterswijk, Marka, Dickson, Dennis W., Petersen, Ronald C., Graff-Radford, Neill R., Boeve, Bradley F., Murray, Melissa E., Pottier, Cyril, Don, Emily, Winnick, Claire, McCann, Emily P., Hogan, Alison, Daoud, Hussein, Levert, Annie, Dion, Patrick A., Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Goto, Jun, Kost, Jason, Gellera, Cinzia, Gkazi, Athina Soragia, Miller, Jack, Stockton, Joanne, Brooks, William S., Boundy, Karyn, Polak, Meraida, Muñoz-Blanco, José Luis, Esteban-Pérez, Jesús, Rábano, Alberto, Hardiman, Orla, Morrison, Karen E., Ticozzi, Nicola, Silani, Vincenzo, de Belleroche, Jacqueline, Glass, Jonathan D., Kwok, John B. J., Guillemin, Gilles J., Chung, Roger S., Tsuji, Shoji, Brown, Robert H., García-Redondo, Alberto, Rademakers, Rosa, Landers, John E., Gitler, Aaron D., Rouleau, Guy A., Cole, Nicholas J., Yerbury, Justin J., Atkin, Julie D., Shaw, Christopher E., Nicholson, Garth A., Blair, Ian P.
Published in Nature communications (15.04.2016)
Published in Nature communications (15.04.2016)
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Journal Article
Neuregulin-1 promotes functional improvement by enhancing collateral sprouting in SOD1(G93A) ALS mice and after partial muscle denervation
Mancuso, Renzo, Martínez-Muriana, Anna, Leiva, Tatiana, Gregorio, David, Ariza, Lorena, Morell, Marta, Esteban-Pérez, Jesús, García-Redondo, Alberto, Calvo, Ana C, Atencia-Cibreiro, Gabriela, Corfas, Gabriel, Osta, Rosario, Bosch, Assumpció, Navarro, Xavier
Published in Neurobiology of disease (01.11.2016)
Published in Neurobiology of disease (01.11.2016)
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Journal Article
Miotonías no distróficas. Aproximación diagnóstica en un caso relacionado con una mutación en el gen del canal del sodio
Domínguez González, Cristina, de Pablo Fernández, Eduardo, Gonzalo Martínez, Juan Francisco, García Redondo, Alberto, Cordero Vázquez, Pilar, Esteban Pérez, Jesús, Gutiérrez Rivas, Eduardo
Published in Revista de neurologiá (01.11.2010)
Published in Revista de neurologiá (01.11.2010)
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Journal Article
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia
Dols-Icardo, O., Garcia-Redondo, A., Rojas-Garcia, R., Sanchez-Valle, R., Noguera, A., Gomez-Tortosa, E., Pastor, P., Hernandez, I., Esteban-Perez, J., Suarez-Calvet, M., Anton-Aguirre, S., Amer, G., Ortega-Cubero, S., Blesa, R., Fortea, J., Alcolea, D., Capdevila, A., Antonell, A., Llado, A., Munoz-Blanco, J. L., Mora, J. S., Galan-Davila, L., Rodriguez De Rivera, F. J., Lleo, A., Clarimon, J.
Published in Human molecular genetics (01.02.2014)
Published in Human molecular genetics (01.02.2014)
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Journal Article
Intermediate Repeat Expansion in the IATXN2/I Gene as a Risk Factor in the ALS and FTD Spanish Population
Borrego-Hernández, Daniel, Vázquez-Costa, Juan Francisco, Domínguez-Rubio, Raúl, Expósito-Blázquez, Laura, Aller, Elena, Padró-Miquel, Ariadna, García-Casanova, Pilar, Colomina, María J, Martín-Arriscado, Cristina, Osta, Rosario, Cordero-Vázquez, Pilar, Esteban-Pérez, Jesús, Povedano-Panadés, Mónica, García-Redondo, Alberto
Published in Biomedicines (01.02.2024)
Published in Biomedicines (01.02.2024)
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Journal Article
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation: Letters to the Editor
De Fuenmayor-Fernández De La Hoz, Carlos Pablo, Domínguez-González, Cristina, Gonzalo-Martínez, Juan Francisco, Esteban-Pérez, Jesús, Fernández-Marmiesse, Ana, Arenas, Joaquín, Martín, Miguel A., Hernández-Laín, Aurelio
Published in Muscle & nerve (01.10.2016)
Published in Muscle & nerve (01.10.2016)
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Journal Article
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
de Majo, Martina, Topp, Simon D., Smith, Bradley N., Nishimura, Agnes L., Chen, Han-Jou, Gkazi, Athina Soragia, Miller, Jack, Wong, Chun Hao, Vance, Caroline, Baas, Frank, ten Asbroek, Anneloor L.M.A., Kenna, Kevin P., Ticozzi, Nicola, Redondo, Alberto Garcia, Esteban-Pérez, Jesús, Tiloca, Cinzia, Verde, Federico, Duga, Stefano, Morrison, Karen E., Shaw, Pamela J., Kirby, Janine, Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Glass, Jonathan D., de Belleroche, Jacqueline, Gellera, Cinzia, Ratti, Antonia, Al-Chalabi, Ammar, Brown, Robert H., Silani, Vincenzo, Landers, John E., Shaw, Christopher E.
Published in Neurobiology of aging (01.11.2018)
Published in Neurobiology of aging (01.11.2018)
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Journal Article
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Lupo, Vincenzo, Bermejo-Guerrero, Laura, Martín-Jiménez, Paloma, Hernández-Laín, Aurelio, Olivé, Montse, Gallardo, Eduard, Esteban-Pérez, Jesús, Espinós, Carmen, Domínguez-González, Cristina
Published in Journal of neurology (01.02.2024)
Published in Journal of neurology (01.02.2024)
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Journal Article