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Dimensionality reduction and recurrence analysis reveal hidden structures of striatal pathological states.
Published in:
Frontiers in Systems Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnsys.2022.975989
By:
- Serrano-Reyes, Miguel;
- Esteban Pérez-Ortega, Jesús;
- García-Vilchis, Brisa;
- Laville, Antonio;
- Ortega, Aidán;
- Galarraga, Elvira;
- Bargas, Jose
Publication type:
Article
Genetic Biomarkers for ALS Disease in Transgenic SOD1<sup>G93A</sup> Mice.
Published in:
PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032632
By:
- Calvo, Ana C.;
- Manzano, Raquel;
- Atencia-Cibreiro, Gabriela;
- Oliván, Sara;
- Muñoz, Marí a J.;
- Zaragoza, Pilar;
- Cordero-Vázquez, Pilar;
- Esteban-Pérez, Jesús;
- Garcí a-Redondo, Alberto;
- Osta, Rosario
Publication type:
Article
Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2.
Published in:
2017
By:
- Hernández‐Laín, Aurelio;
- Esteban‐Pérez, Jesús;
- Montenegro, Diana Cantero;
- Domínguez‐González, Cristina
Publication type:
journal article
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.
Published in:
2016
By:
- 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
Publication type:
Case Study
Change in network connectivity during fictive-gasping generation in hypoxia: prevention by a metabolic intermediate.
Published in:
Frontiers in Physiology, 2014, v. 5, p. 1, doi. 10.3389/fphys.2014.00265
By:
- Nieto-Posadas, Andrés;
- Flores-Martínez, Ernesto;
- Lorea-Hernández, Jonathan-Julio;
- Rivera-Angulo, Ana-Julia;
- Pérez-Ortega, Jesús-Esteban;
- Bargas, José;
- Peña-Ortega, Fernando;
- Iturriaga, Rodrigo;
- Abdala, Ana Paula
Publication type:
Article
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
Published in:
Journal of Neurology, 2024, v. 271, n. 2, p. 986, doi. 10.1007/s00415-023-12039-9
By:
- 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
Publication type:
Article
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
Published in:
Journal of Neurology, 2019, v. 266, n. 4, p. 934, doi. 10.1007/s00415-019-09217-z
By:
- 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
Publication type:
Article
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 3, p. 749, doi. 10.1093/hmg/ddt460
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
Publication type:
Article
Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease.
Published in:
European Journal of Neurology, 2023, v. 30, n. 4, p. 861, doi. 10.1111/ene.15661
By:
- 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
Publication type:
Article
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.
Published in:
Biomedicines, 2024, v. 12, n. 2, p. 356, doi. 10.3390/biomedicines12020356
By:
- 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
Publication type:
Article
Analysis of the C 9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide.
Published in:
Human Mutation, 2013, v. 34, n. 1, p. 79, doi. 10.1002/humu.22211
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
Publication type:
Article

Found: 11