De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+)
Jaimes, Alex, Guerrero‐López, Rosa, González‐Giráldez, Beatriz, Serratosa, Jose M.
Published in Epileptic disorders (01.06.2020)
Published in Epileptic disorders (01.06.2020)
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Shorter telomere length is associated with COVID-19 hospitalization and with persistence of radiographic lung abnormalities
Retuerto, Miriam, Lledó, Ana, Fernandez-Varas, Beatriz, Guerrero-López, Rosa, Usategui, Alicia, Lalueza, Antonio, García-García, Rocío, Mancebo, Esther, Paz-Artal, Estela, Sastre, Leandro, Perona, Rosario, Pablos, José L
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Published in Immunity & ageing (22.08.2022)
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α-Secretase nonsense mutation (ADAM10 Tyr167) in familial Alzheimer's disease
Agüero, Pablo, Sainz, María José, García-Ayllón, María-Salud, Sáez-Valero, Javier, Téllez, Raquel, Guerrero-López, Rosa, Pérez-Pérez, Julián, Jiménez-Escrig, Adriano, Gómez-Tortosa, Estrella
Published in Alzheimer's research & therapy (31.10.2020)
Published in Alzheimer's research & therapy (31.10.2020)
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Comparison of Colorectal Cancer Stem Cells and Oxaliplatin-Resistant Cells Unveils Functional Similarities
Rodríguez-Fanjul, Vanessa, Guerrero-López, Rosa, Fernández-Varas, Beatriz, Perona, Rosario, Sastre-Perona, Ana, Sastre, Leandro
Published in Cells (Basel, Switzerland) (01.02.2022)
Published in Cells (Basel, Switzerland) (01.02.2022)
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Pitfalls in genetic testing: the story of missed SCN1A mutations
Djémié, Tania, Weckhuysen, Sarah, Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna‐Kaisa, Brilstra, Eva, Caglayan, Hande S., Kovel, Carolien G., Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G., Gormley, Padhraig, Guerrero‐López, Rosa, Guerrini, Renzo, Hämäläinen, Eija, Hartmann, Corinna, Hernandez‐Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C., Leguern, Eric, Lehesjoki, Anna‐Elina, Lemke, Johannes R., Leu, Costin, Marini, Carla, McMahon, Jacinta M., Mei, Davide, Møller, Rikke S., Muhle, Hiltrud, Myers, Candace T., Nava, Caroline, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Striano, Pasquale, Kempen, Marjan J. A., Verbeek, Nienke E., Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C., Scheffer, Ingrid E., De Jonghe, Peter, Helbig, Ingo, Suls, Arvid
Published in Molecular genetics & genomic medicine (01.07.2016)
Published in Molecular genetics & genomic medicine (01.07.2016)
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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Lemke, Johannes R, Lal, Dennis, Reinthaler, Eva M, Steiner, Isabelle, Nothnagel, Michael, Alber, Michael, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Finsterwalder, Katrin, Franke, Andre, Schilhabel, Markus, Jähn, Johanna A, Muhle, Hiltrud, Boor, Rainer, Van Paesschen, Wim, Caraballo, Roberto, Fejerman, Natalio, Weckhuysen, Sarah, De Jonghe, Peter, Larsen, Jan, Møller, Rikke S, Hjalgrim, Helle, Addis, Laura, Tang, Shan, Hughes, Elaine, Pal, Deb K, Veri, Kadi, Vaher, Ulvi, Talvik, Tiina, Dimova, Petia, Guerrero López, Rosa, Serratosa, José M, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Ruf, Susanne, Wolff, Markus, Buerki, Sarah, Wohlrab, Gabriele, Kroell, Judith, Datta, Alexandre N, Fiedler, Barbara, Kurlemann, Gerhard, Kluger, Gerhard, Hahn, Andreas, Haberlandt, D Edda, Kutzer, Christina, Sperner, Jürgen, Becker, Felicitas, Weber, Yvonne G, Feucht, Martha, Steinböck, Hannelore, Neophythou, Birgit, Ronen, Gabriel M, Gruber-Sedlmayr, Ursula, Geldner, Julia, Harvey, Robert J, Hoffmann, Per, Herms, Stefan, Altmüller, Janine, Toliat, Mohammad R, Thiele, Holger, Nürnberg, Peter, Wilhelm, Christian, Stephani, Ulrich, Helbig, Ingo, Lerche, Holger, Zimprich, Fritz, Neubauer, Bernd A, Biskup, Saskia, von Spiczak, Sarah
Published in Nature genetics (01.09.2013)
Published in Nature genetics (01.09.2013)
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Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function
Santos-Gómez, Ana, Miguez-Cabello, Federico, García-Recio, Adrián, Locubiche-Serra, Sílvia, García-Díaz, Roberto, Soto-Insuga, Víctor, Guerrero-López, Rosa, Juliá-Palacios, Natalia, Ciruela, Francisco, García-Cazorla, Àngels, Soto, David, Olivella, Mireia, Altafaj, Xavier
Published in Human molecular genetics (25.02.2021)
Published in Human molecular genetics (25.02.2021)
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Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation
Gómez-Tortosa, Estrella, Van der Zee, Julie, Ruggiero, María, Gijselinck, Ilse, Esteban-Pérez, Jesús, García-Redondo, Alberto, Borrego-Hernández, Daniel, Navarro, Eloísa, Sainz, M. José, Pérez-Pérez, Julián, Cruts, Marc, Van Broeckhoven, Christine, Guerrero-López, Rosa
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2017)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2017)
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Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes
Ortega-Moreno, Laura, Giráldez, Beatriz G, Soto-Insuga, Victor, Losada-Del Pozo, Rebeca, Rodrigo-Moreno, María, Alarcón-Morcillo, Cristina, Sánchez-Martín, Gema, Díaz-Gómez, Esther, Guerrero-López, Rosa, Serratosa, José M
Published in PloS one (30.11.2017)
Published in PloS one (30.11.2017)
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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features
Soto-Insuga, Víctor, López, Rosa Guerrero, Losada-Del Pozo, Rebeca, Rodrigo-Moreno, María, Cayuelas, Elena Martínez, Giráldez, Beatriz G., Díaz-Gómez, Ester, Sánchez-Martín, Gema, García, Laura Olivié, Serratosa, José M.
Published in Epilepsy research (01.08.2019)
Published in Epilepsy research (01.08.2019)
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Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2) mutation
Gómez-Tortosa, Estrella, Baradaran-Heravi, Yalda, González Alvarez, Valentina, Sainz, María José, Prieto-Jurczynska, Cristina, Guerrero-López, Rosa, Agüero Rabes, Pablo, Van Broeckhoven, Christine, van der Zee, Julie, Rábano Gutiérrez, Alberto
Published in Neurobiology of aging (01.04.2019)
Published in Neurobiology of aging (01.04.2019)
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Mild Lafora disease: Clinical, neurophysiologic, and genetic findings
Ferlazzo, Edoardo, Canafoglia, Laura, Michelucci, Roberto, Gambardella, Antonio, Gennaro, Elena, Pasini, Elena, Riguzzi, Patrizia, Plasmati, Rosaria, Volpi, Lilia, Labate, Angelo, Gasparini, Sara, Villani, Flavio, Casazza, Marina, Viri, Maurizio, Zara, Federico, Minassian, Berge A., Turnbull, Julie, Serratosa, Jose M., Guerrero‐López, Rosa, Franceschetti, Silvana, Aguglia, Umberto
Published in Epilepsia (Copenhagen) (01.12.2014)
Published in Epilepsia (Copenhagen) (01.12.2014)
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GSE4‐loaded nanoparticles a potential therapy for lung fibrosis that enhances pneumocyte growth, reduces apoptosis and DNA damage
Pintado‐Berninches, Laura, Montes‐Worboys, Ana, Manguan‐García, Cristina, Arias‐Salgado, Elena G., Serrano, Adela, Fernandez‐Varas, Beatriz, Guerrero‐López, Rosa, Iarriccio, Laura, Planas, Lurdes, Guenechea, Guillermo, Egusquiaguirre, Susana P., Hernandez, Rosa M., Igartua, Manoli, Luis Pedraz, Jose, Cortijo, Julio, Sastre, Leandro, Molina‐Molina, Maria, Perona, Rosario
Published in The FASEB journal (01.03.2021)
Published in The FASEB journal (01.03.2021)
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SORL1 Variants in Familial Alzheimer's Disease
Gómez-Tortosa, Estrella, Ruggiero, María, Sainz, Ma José, Villarejo-Galende, Alberto, Prieto-Jurczynska, Cristina, Venegas Pérez, Begoña, Ordás, Carlos, Agüero, Pablo, Guerrero-López, Rosa, Pérez-Pérez, Julián
Published in Journal of Alzheimer's disease (01.01.2018)
Published in Journal of Alzheimer's disease (01.01.2018)
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Behavioral Evolution of Progressive Semantic Aphasia in Comparison with Nonfluent Aphasia
Gómez-Tortosa, Estrella, Rigual, Ricardo, Prieto-Jurczynska, Cristina, Mahillo-Fernández, Ignacio, Guerrero-López, Rosa, Pérez-Pérez, Julián, Sainz, M José
Published in Dementia and geriatric cognitive disorders (01.03.2016)
Published in Dementia and geriatric cognitive disorders (01.03.2016)
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Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1
Giráldez, Beatriz G, Guerrero-López, Rosa, Ortega-Moreno, Laura, Verdú, Alfonso, Carrascosa-Romero, M. Carmen, García-Campos, Óscar, García-Muñozguren, Susana, Pardal-Fernández, José Manuel, Serratosa, José M
Published in Neuromuscular disorders : NMD (01.03.2015)
Published in Neuromuscular disorders : NMD (01.03.2015)
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Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion
Gómez-Tortosa, Estrella, Prieto-Jurczynska, Cristina, Serrano, Soledad, Franco-Macías, Emilio, Olivié, Laura, Gallego, Jesús, Guerrero-López, Rosa, Trujillo-Tiebas, María José, Ayuso, Carmen, García Ruiz, Pedro, Pérez-Pérez, Julián, Sainz, María José
Published in Journal of Alzheimer's disease (26.04.2016)
Published in Journal of Alzheimer's disease (26.04.2016)
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A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure
Guerrero-López, Rosa, García-Ruiz, Pedro J., Giráldez, Beatriz G., Durán-Herrera, Carmen, Querol-Pascual, Maria Rosa, Ramírez-Moreno, José María, Más, Sebastián, Serratosa, José M.
Published in Movement disorders (01.12.2012)
Published in Movement disorders (01.12.2012)
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Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, Leanne M, de Vries, Boukje, Donatello, Simona, Heron, Sarah E, Hodgson, Bree L, Chintawar, Satyan, Crompton, Douglas E, Hughes, James N, Bellows, Susannah T, Klein, Karl Martin, Callenbach, Petra M C, Corbett, Mark A, Gardner, Alison E, Kivity, Sara, Iona, Xenia, Regan, Brigid M, Weller, Claudia M, Crimmins, Denis, O'Brien, Terence J, Guerrero-López, Rosa, Mulley, John C, Dubeau, Francois, Licchetta, Laura, Bisulli, Francesca, Cossette, Patrick, Thomas, Paul Q, Gecz, Jozef, Serratosa, Jose, Brouwer, Oebele F, Andermann, Frederick, Andermann, Eva, van den Maagdenberg, Arn M J M, Pandolfo, Massimo, Berkovic, Samuel F, Scheffer, Ingrid E
Published in Nature genetics (01.05.2013)
Published in Nature genetics (01.05.2013)
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