Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes von 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

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Mild Lafora disease: Clinical, neurophysiologic, and genetic findings von 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

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GSE4‐loaded nanoparticles a potential therapy for lung fibrosis that enhances pneumocyte growth, reduces apoptosis and DNA damage von 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

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A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure von 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.

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Mutations in DEPDC5 cause familial focal epilepsy with variable foci von 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

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C9ORF72 hexanucleotide expansions of 20―22 repeats are associated with frontotemporal deterioration von GOMEZ-TORTOSA, Estrella, GALLEGO, Jesús, PEREZ-PEREZ, Julian, GUERRERO-LOPEZ, Rosa, MARCOS, Alberto, GIL-NECIGA, Eulogio, JOSE SAINZ, María, DIAZ, Asunción, FRANCO-MACIAS, Emilio, JOSE TRUJILLO-TIEBAS, María, AYUSO, Carmen

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De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+) von Jaimes, Alex, Guerrero‐López, Rosa, González‐Giráldez, Beatriz, Serratosa, Jose M.

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Shorter telomere length is associated with COVID-19 hospitalization and with persistence of radiographic lung abnormalities von 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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Hyperexcitability and epileptic seizures in a model of frontotemporal dementia von García-Cabrero, Ana M, Guerrero-López, Rosa, Giráldez, Beatriz G, Llorens-Martín, María, Ávila, Jesús, Serratosa, José M, Sánchez, Marina P

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α-Secretase nonsense mutation (ADAM10 Tyr167) in familial Alzheimer's disease von 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

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Comparison of Colorectal Cancer Stem Cells and Oxaliplatin-Resistant Cells Unveils Functional Similarities von Rodríguez-Fanjul, Vanessa, Guerrero-López, Rosa, Fernández-Varas, Beatriz, Perona, Rosario, Sastre-Perona, Ana, Sastre, Leandro

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Pitfalls in genetic testing: the story of missed SCN1A mutations von 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

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Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene von Guerrero-López, Rosa, Ortega-Moreno, Laura, Giráldez, Beatriz G, Alarcón-Morcillo, Cristina, Sánchez-Martín, Gema, Nieto-Barrera, Manuel, Gutiérrez-Delicado, Eva, Gómez-Garre, Pilar, Martínez-Bermejo, Antonio, García-Peñas, Juan J, Serratosa, José M

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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes von 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

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Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function von 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

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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features von 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.

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Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2) mutation von 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

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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia von Hardies, Katia, de Kovel, Carolien G F, Weckhuysen, Sarah, Asselbergh, Bob, Geuens, Thomas, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Dana, Braun, Kees P J, Lal, Dennis, Thiele, Holger, Schubert, Julian, Weber, Yvonne, van 't Slot, Ruben, Nürnberg, Peter, Balling, Rudi, Timmerman, Vincent, Lerche, Holger, Maudsley, Stuart, Helbig, Ingo, Suls, Arvid, Koeleman, Bobby P C, De Jonghe, Peter

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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome von Suls, Arvid, Jaehn, Johanna A., Kecskés, Angela, Weber, Yvonne, Weckhuysen, Sarah, Craiu, Dana C., Siekierska, Aleksandra, Djémié, Tania, Afrikanova, Tatiana, Gormley, Padhraig, von Spiczak, Sarah, Kluger, Gerhard, Iliescu, Catrinel M., Talvik, Tiina, Talvik, Inga, Meral, Cihan, Caglayan, Hande S., Giraldez, Beatriz G., Serratosa, José, Lemke, Johannes R., Hoffman-Zacharska, Dorota, Szczepanik, Elzbieta, Barisic, Nina, Komarek, Vladimir, Hjalgrim, Helle, Møller, Rikke S., Linnankivi, Tarja, Dimova, Petia, Striano, Pasquale, Zara, Federico, Marini, Carla, Guerrini, Renzo, Depienne, Christel, Baulac, Stéphanie, Kuhlenbäumer, Gregor, Crawford, Alexander D., Lehesjoki, Anna-Elina, de Witte, Peter A.M., Palotie, Aarno, Lerche, Holger, Esguerra, Camila V., De Jonghe, Peter, Helbig, Ingo, Hendrickx, Rik, Holmgren, Philip, Stephani, Ulrich, Muhle, Hiltrud, Pendiziwiat, Manuela, Appenzeller, Silke, Selmer, Kaja, Brilstra, Eva, Koeleman, Bobby, Rosenow, Felix, Leguern, Eric, Sterbova, Katalin, Magdalena, Budisteanu, Rodica, Gherghiceanu, Arsene, Oana Tarta, Diana, Barca, Guerrero-Lopez, Rosa, Ortega, Laura, Todorova, Albena P., Kirov, Andrey V., Robbiano, Angela, Arslan, Mutluay, Yiş, Uluç, Ivanović, Vanja

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Behavioral Evolution of Progressive Semantic Aphasia in Comparison with Nonfluent Aphasia von Gómez-Tortosa, Estrella, Rigual, Ricardo, Prieto-Jurczynska, Cristina, Mahillo-Fernández, Ignacio, Guerrero-López, Rosa, Pérez-Pérez, Julián, Sainz, M. José

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