14 results on '"Serratosa, Jose M."'
Search Results
2. An empirical pipeline for personalized diagnosis of Lafora disease mutations
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Brewer, M. Kathryn, primary, Machio-Castello, Maria, additional, Viana, Rosa, additional, Wayne, Jeremiah L., additional, Kuchtová, Andrea, additional, Simmons, Zoe R., additional, Sternbach, Sarah, additional, Li, Sheng, additional, García-Gimeno, Maria Adelaida, additional, Serratosa, Jose M., additional, Sanz, Pascual, additional, Vander Kooi, Craig W., additional, and Gentry, Matthew S., additional
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- 2021
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3. An Empirical Pipeline for Personalized Diagnosis of Lafora Disease Mutations
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Brewer, M. Kathryn, primary, Machio-Castello, Maria, additional, Viana, Rosa, additional, Wayne, Jeremiah L., additional, Kuchtová, Andrea, additional, Simmons, Zoe R., additional, Sternbach, Sarah, additional, Li, Sheng, additional, Garcia-Gimeno, Maria Adelaida, additional, Serratosa, Jose M., additional, Sanz, Pascual, additional, Vander Kooi, Craig W., additional, and Gentry, Matthew S., additional
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- 2021
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4. Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)
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Bonardi, Claudia M., primary, Mignot, Cyril, additional, Serratosa, Jose M., additional, Giraldez, Beatriz G., additional, Moretti, Raffaella, additional, Rudolf, Gabrielle, additional, Reale, Chiara, additional, Gellert, Pia M., additional, Johannesen, Katrine M., additional, Lesca, Gaetan, additional, Tassinari, Carlo A., additional, Gardella, Elena, additional, Møller, Rikke S., additional, and Rubboli, Guido, additional
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- 2020
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5. The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic
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Gentry, Matthew S., primary, Afawi, Zaid, additional, Armstrong, Dustin D., additional, Delgado-Escueta, Antonio, additional, Goldberg, Y. Paul, additional, Grossman, Tamar R., additional, Guinovart, Joan J., additional, Harris, Frank, additional, Hurley, Thomas D., additional, Michelucci, Roberto, additional, Minassian, Berge A., additional, Sanz, Pascual, additional, Worby, Carolyn A., additional, and Serratosa, Jose M., additional
- Published
- 2020
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6. External trigeminal nerve stimulation: A long term follow up study
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Olivié, Laura, primary, Giraldez, Beatriz G., additional, Sierra-Marcos, Alba, additional, Díaz-Gómez, Esther, additional, and Serratosa, Jose M., additional
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- 2019
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7. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
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Helbig, Ingo, primary, Lopez-Hernandez, Tania, additional, Shor, Oded, additional, Galer, Peter, additional, Ganesan, Shiva, additional, Pendziwiat, Manuela, additional, Rademacher, Annika, additional, Ellis, Colin A., additional, Hümpfer, Nadja, additional, Schwarz, Niklas, additional, Seiffert, Simone, additional, Peeden, Joseph, additional, Shen, Joseph, additional, Štěrbová, Katalin, additional, Hammer, Trine Bjørg, additional, Møller, Rikke S., additional, Shinde, Deepali N., additional, Tang, Sha, additional, Smith, Lacey, additional, Poduri, Annapurna, additional, Krause, Roland, additional, Benninger, Felix, additional, Helbig, Katherine L., additional, Haucke, Volker, additional, Weber, Yvonne G., additional, Balling, Rudi, additional, Barisic, Nina, additional, Baulac, Stéphanie, additional, Caglayan, Hande, additional, Craiu, Dana, additional, De Jonghe, Peter, additional, Depienne, Christel, additional, Guerrini, Renzo, additional, Hjalgrim, Helle, additional, Hoffman-Zacharska, Dorota, additional, Jähn, Johanna, additional, Klein, Karl Martin, additional, Koeleman, Bobby P.C., additional, Komarek, Vladimir, additional, Leguern, Eric, additional, Lehesjoki, Anna-Elina, additional, Lemke, Johannes R., additional, Lerche, Holger, additional, Linnankivi, Tarja, additional, Marini, Carla, additional, May, Patrick, additional, Muhle, Hiltrud, additional, Pal, Deb K., additional, Palotie, Aarno, additional, Rosenow, Felix, additional, Schubert-Bast, Susanne, additional, Selmer, Kaja, additional, Serratosa, Jose M., additional, Sisodiya, Sanjay, additional, Stephani, Ulrich, additional, Striano, Pasquale, additional, Suls, Arvid, additional, Talvik, Tiina, additional, von Spiczak, Sarah, additional, Weckhuysen, Sarah, additional, Zara, Federico, additional, Avillach, Paul, additional, Bartels, Anna, additional, Biswas, Sawona, additional, Bourgeois, Florence, additional, Devkota, Batsal, additional, Glauser, Tracy, additional, Hallinan, Barbara, additional, Heath, Allison, additional, Hirschhorn, Joel, additional, Kilbourn, Judson, additional, Kong, Sek Won, additional, Krantz, Ian, additional, Lee, In-Hee, additional, Mandl, Kenneth D., additional, Marsh, Eric, additional, Sund, Kristen, additional, Taylor, Deanne, additional, and White, Peter, additional
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- 2019
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8. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
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May, Patrick, primary, Girard, Simon, additional, Harrer, Merle, additional, Bobbili, Dheeraj R, additional, Schubert, Julian, additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Lachance-Touchette, Pamela, additional, Meloche, Caroline, additional, Gravel, Micheline, additional, Niturad, Cristina E, additional, Knaus, Julia, additional, De Kovel, Carolien, additional, Toliat, Mohamad, additional, Polvi, Anne, additional, Iacomino, Michele, additional, Guerrero-López, Rosa, additional, Baulac, Stéphanie, additional, Marini, Carla, additional, Thiele, Holger, additional, Altmüller, Janine, additional, Jabbari, Kamel, additional, Ruppert, Ann-Kathrin, additional, Jurkowski, Wiktor, additional, Lal, Dennis, additional, Rusconi, Raffaella, additional, Cestèle, Sandrine, additional, Terragni, Benedetta, additional, Coombs, Ian D, additional, Reid, Christopher A, additional, Striano, Pasquale, additional, Caglayan, Hande, additional, Siren, Auli, additional, Everett, Kate, additional, Møller, Rikke S, additional, Hjalgrim, Helle, additional, Muhle, Hiltrud, additional, Helbig, Ingo, additional, Kunz, Wolfram S, additional, Weber, Yvonne G, additional, Weckhuysen, Sarah, additional, Jonghe, Peter De, additional, Sisodiya, Sanjay M, additional, Nabbout, Rima, additional, Franceschetti, Silvana, additional, Coppola, Antonietta, additional, Vari, Maria S, additional, Kasteleijn-Nolst Trenité, Dorothée, additional, Baykan, Betul, additional, Ozbek, Ugur, additional, Bebek, Nerses, additional, Klein, Karl M, additional, Rosenow, Felix, additional, Nguyen, Dang K, additional, Dubeau, François, additional, Carmant, Lionel, additional, Lortie, Anne, additional, Desbiens, Richard, additional, Clément, Jean-François, additional, Cieuta-Walti, Cécile, additional, Sills, Graeme J, additional, Auce, Pauls, additional, Francis, Ben, additional, Johnson, Michael R, additional, Marson, Anthony G, additional, Berghuis, Bianca, additional, Sander, Josemir W, additional, Avbersek, Andreja, additional, McCormack, Mark, additional, Cavalleri, Gianpiero L, additional, Delanty, Norman, additional, Depondt, Chantal, additional, Krenn, Martin, additional, Zimprich, Fritz, additional, Peter, Sarah, additional, Nikanorova, Marina, additional, Kraaij, Robert, additional, van Rooij, Jeroen, additional, Balling, Rudi, additional, Ikram, M Arfan, additional, Uitterlinden, André G, additional, Avanzini, Giuliano, additional, Schorge, Stephanie, additional, Petrou, Steven, additional, Mantegazza, Massimo, additional, Sander, Thomas, additional, LeGuern, Eric, additional, Serratosa, Jose M, additional, Koeleman, Bobby P C, additional, Palotie, Aarno, additional, Lehesjoki, Anna-Elina, additional, Nothnagel, Michael, additional, Nürnberg, Peter, additional, Maljevic, Snezana, additional, Zara, Federico, additional, Cossette, Patrick, additional, Krause, Roland, additional, Lerche, Holger, additional, May, Patrick, additional, De Jonghe, Peter, additional, Arfan Ikram, M, additional, Ferlazzo, Edoardo, additional, di Bonaventura, Carlo, additional, La Neve, Angela, additional, Tinuper, Paolo, additional, Bisulli, Francesca, additional, Vignoli, Aglaia, additional, Capovilla, Giuseppe, additional, Crichiutti, Giovanni, additional, Gambardella, Antonio, additional, Belcastro, Vincenzo, additional, Bianchi, Amedeo, additional, Yalçın, Destina, additional, Dizdarer, Gulsen, additional, Arslan, Kezban, additional, Yapıcı, Zuhal, additional, Kuşcu, Demet, additional, Leu, Costin, additional, Heggeli, Kristin, additional, Willis, Joseph, additional, Langley, Sarah R, additional, Jorgensen, Andrea, additional, Srivastava, Prashant, additional, Rau, Sarah, additional, Hengsbach, Christian, additional, and Sonsma, Anja C.M., additional
- Published
- 2018
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9. Lafora disease offers a unique window into neuronal glycogen metabolism
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Gentry, Matthew S., primary, Guinovart, Joan J., additional, Minassian, Berge A., additional, Roach, Peter J., additional, and Serratosa, Jose M., additional
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- 2018
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10. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
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Appenzeller, Silke, primary, Balling, Rudi, additional, Barisic, Nina, additional, Baulac, Stéphanie, additional, Caglayan, Hande, additional, Craiu, Dana, additional, De Jonghe, Peter, additional, Depienne, Christel, additional, Dimova, Petia, additional, Djémié, Tania, additional, Gormley, Padhraig, additional, Guerrini, Renzo, additional, Helbig, Ingo, additional, Hjalgrim, Helle, additional, Hoffman-Zacharska, Dorota, additional, Jähn, Johanna, additional, Klein, Karl Martin, additional, Koeleman, Bobby, additional, Komarek, Vladimir, additional, Krause, Roland, additional, Kuhlenbäumer, Gregor, additional, Leguern, Eric, additional, Lehesjoki, Anna-Elina, additional, Lemke, Johannes R., additional, Lerche, Holger, additional, Linnankivi, Tarja, additional, Marini, Carla, additional, May, Patrick, additional, Møller, Rikke S., additional, Muhle, Hiltrud, additional, Pal, Deb, additional, Palotie, Aarno, additional, Pendziwiat, Manuela, additional, Robbiano, Angela, additional, Roelens, Filip, additional, Rosenow, Felix, additional, Selmer, Kaja, additional, Serratosa, Jose M., additional, Sisodiya, Sanjay, additional, Stephani, Ulrich, additional, Sterbova, Katalin, additional, Striano, Pasquale, additional, Suls, Arvid, additional, Talvik, Tiina, additional, von Spiczak, Sarah, additional, Weber, Yvonne, additional, Weckhuysen, Sarah, additional, Zara, Federico, additional, Abou-Khalil, Bassel, additional, Alldredge, Brian K., additional, Andermann, Eva, additional, Andermann, Frederick, additional, Amrom, Dina, additional, Bautista, Jocelyn F., additional, Berkovic, Samuel F., additional, Bluvstein, Judith, additional, Boro, Alex, additional, Cascino, Gregory, additional, Consalvo, Damian, additional, Crumrine, Patricia, additional, Devinsky, Orrin, additional, Dlugos, Dennis, additional, Epstein, Michael P., additional, Fiol, Miguel, additional, Fountain, Nathan B., additional, French, Jacqueline, additional, Friedman, Daniel, additional, Geller, Eric B., additional, Glauser, Tracy, additional, Glynn, Simon, additional, Haas, Kevin, additional, Haut, Sheryl R., additional, Hayward, Jean, additional, Helmers, Sandra L., additional, Joshi, Sucheta, additional, Kanner, Andres, additional, Kirsch, Heidi E., additional, Knowlton, Robert C., additional, Kossoff, Eric H., additional, Kuperman, Rachel, additional, Kuzniecky, Ruben, additional, Lowenstein, Daniel H., additional, McGuire, Shannon M., additional, Motika, Paul V., additional, Novotny, Edward J., additional, Ottman, Ruth, additional, Paolicchi, Juliann M., additional, Parent, Jack, additional, Park, Kristen, additional, Poduri, Annapurna, additional, Sadleir, Lynette, additional, Scheffer, Ingrid E., additional, Shellhaas, Renée A., additional, Sherr, Elliott, additional, Shih, Jerry J., additional, Singh, Rani, additional, Sirven, Joseph, additional, Smith, Michael C., additional, Sullivan, Joe, additional, Thio, Liu Lin, additional, Venkat, Anu, additional, Vining, Eileen P.G., additional, Von Allmen, Gretchen K., additional, Weisenberg, Judith L., additional, Widdess-Walsh, Peter, additional, Winawer, Melodie R., additional, Allen, Andrew S., additional, Cossette, Patrick, additional, Delanty, Norman, additional, Eichler, Evan E., additional, Goldstein, David B., additional, Han, Yujun, additional, Heinzen, Erin L., additional, Johnson, Michael R., additional, Marson, Anthony G., additional, Mefford, Heather C., additional, Nieh, Sahar Esmaeeli, additional, O’Brien, Terence J., additional, Petrou, Stephen, additional, Petrovski, Slavé, additional, and Ruzzo, Elizabeth K., additional
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- 2017
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11. Jeavons syndrome as an occipital cortex initiated generalized epilepsy: Further evidence from a patient with a photic-induced occipital seizure
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Giráldez, Beatriz G., primary and Serratosa, Jose M., additional
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- 2015
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12. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
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Appenzeller, Silke, primary, Balling, Rudi, additional, Barisic, Nina, additional, Baulac, Stéphanie, additional, Caglayan, Hande, additional, Craiu, Dana, additional, De Jonghe, Peter, additional, Depienne, Christel, additional, Dimova, Petia, additional, Djémié, Tania, additional, Gormley, Padhraig, additional, Guerrini, Renzo, additional, Helbig, Ingo, additional, Hjalgrim, Helle, additional, Hoffman-Zacharska, Dorota, additional, Jähn, Johanna, additional, Klein, Karl Martin, additional, Koeleman, Bobby, additional, Komarek, Vladimir, additional, Krause, Roland, additional, Kuhlenbäumer, Gregor, additional, Leguern, Eric, additional, Lehesjoki, Anna-Elina, additional, Lemke, Johannes R., additional, Lerche, Holger, additional, Linnankivi, Tarja, additional, Marini, Carla, additional, May, Patrick, additional, Møller, Rikke S., additional, Muhle, Hiltrud, additional, Pal, Deb, additional, Palotie, Aarno, additional, Pendziwiat, Manuela, additional, Robbiano, Angela, additional, Roelens, Filip, additional, Rosenow, Felix, additional, Selmer, Kaja, additional, Serratosa, Jose M., additional, Sisodiya, Sanjay, additional, Stephani, Ulrich, additional, Sterbova, Katalin, additional, Striano, Pasquale, additional, Suls, Arvid, additional, Talvik, Tiina, additional, von Spiczak, Sarah, additional, Weber, Yvonne, additional, Weckhuysen, Sarah, additional, Zara, Federico, additional, Abou-Khalil, Bassel, additional, Alldredge, Brian K., additional, Andermann, Eva, additional, Andermann, Frederick, additional, Amron, Dina, additional, Bautista, Jocelyn F., additional, Berkovic, Samuel F., additional, Bluvstein, Judith, additional, Boro, Alex, additional, Cascino, Gregory, additional, Consalvo, Damian, additional, Crumrine, Patricia, additional, Devinsky, Orrin, additional, Dlugos, Dennis, additional, Epstein, Michael P., additional, Fiol, Miguel, additional, Fountain, Nathan B., additional, French, Jacqueline, additional, Friedman, Daniel, additional, Geller, Eric B., additional, Glauser, Tracy, additional, Glynn, Simon, additional, Haas, Kevin, additional, Haut, Sheryl R., additional, Hayward, Jean, additional, Helmers, Sandra L., additional, Joshi, Sucheta, additional, Kanner, Andres, additional, Kirsch, Heidi E., additional, Knowlton, Robert C., additional, Kossoff, Eric H., additional, Kuperman, Rachel, additional, Kuzniecky, Ruben, additional, Lowenstein, Daniel H., additional, McGuire, Shannon M., additional, Motika, Paul V., additional, Novotny, Edward J., additional, Ottman, Ruth, additional, Paolicchi, Juliann M., additional, Parent, Jack, additional, Park, Kristen, additional, Poduri, Annapurna, additional, Sadleir, Lynette, additional, Scheffer, Ingrid E., additional, Shellhaas, Renée A., additional, Sherr, Elliott, additional, Shih, Jerry J., additional, Singh, Rani, additional, Sirven, Joseph, additional, Smith, Michael C., additional, Sullivan, Joe, additional, Thio, Liu Lin, additional, Venkat, Anu, additional, Vining, Eileen P.G., additional, Von Allmen, Gretchen K., additional, Weisenberg, Judith L., additional, Widdess-Walsh, Peter, additional, Winawer, Melodie R., additional, Allen, Andrew S., additional, Cossette, Patrick, additional, Delanty, Norman, additional, Eichler, Evan E., additional, Goldstein, David B., additional, Han, Yujun, additional, Heinzen, Erin L., additional, Johnson, Michael R., additional, Marson, Anthony G., additional, Mefford, Heather C., additional, Nieh, Sahar Esmaeeli, additional, O’Brien, Terence J., additional, Petrou, Stephen, additional, Petrovski, Slavé, additional, and Ruzzo, Elizabeth K., additional
- Published
- 2014
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13. Childhood Absence Epilepsy with Tonic-Clonic Seizures and Electroencephalogram 3–4-Hz Spike and Multispike–Slow Wave Complexes: Linkage to Chromosome 8q24
- Author
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Fong, G.C.Y., primary, Shah, Pravina U., additional, Gee, Manyee N., additional, Serratosa, Jose M., additional, Castroviejo, Ignacio Pascual, additional, Khan, Sonia, additional, Ravat, Sangeeta H., additional, Mani, Jayanthi, additional, Huang, Y., additional, Zhao, H.Z., additional, Medina, Marco T., additional, Treiman, Lucy J., additional, Pineda, Gregorio, additional, and Delgado-Escueta, Antonio V., additional
- Published
- 1998
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14. Lafora Progressive Myoclonus Epilepsy: Narrowing the Chromosome 6q24 Locus by Recombinations and Homozygosities
- Author
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Sainz, Jesus, primary, Minassian, Berge A., additional, Serratosa, Jose M., additional, Gee, Manyee N., additional, Sakamoto, Lise M., additional, Iranmanesh, Reza, additional, Bohlega, Saeed, additional, Baumann, Robert J., additional, Ryan, Steve, additional, Sparkes, Robert S., additional, and Delgado-Escueta, Antonio V., additional
- Published
- 1997
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- View/download PDF
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