Search Results - Conti, Valerio

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  1. 1
    Genetic Basis of Brain Malformations

    Genetic Basis of Brain Malformations by Parrini, Elena, Conti, Valerio, Dobyns, William B., Guerrini, Renzo

    Published 2016
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  2. 2
    PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

    PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine by Marini, Carla, Conti, Valerio, Mei, Davide, Battaglia, Domenica, Lettori, Donatella, Losito, Emma, Bruccini, Grazia, Tortorella, Gaetano, Guerrini, Renzo

    Published 2012
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  3. 3
    Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

    Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening by Marchese, Maria, Conti, Valerio, Valvo, Giulia, Moro, Francesca, Muratori, Filippo, Tancredi, Raffaella, Santorelli, Filippo M, Guerrini, Renzo, Sicca, Federico

    Published 2014
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  4. 4
    Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?

    Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? by Guerrini, Renzo, Cavallin, Mara, Pippucci, Tommaso, Rosati, Anna, Bisulli, Francesca, Dimartino, Paola, Barba, Carmen, Garbelli, Rita, Buccoliero, Anna Maria, Tassi, Laura, Conti, Valerio

    Published 2020
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  5. 5
    Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings

    Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings by Musante, Veronica, Neri, Elisa, Feligioni, Marco, Puliti, Aldamaria, Pedrazzi, Marco, Conti, Valerio, Usai, Cesare, Diaspro, Alberto, Ravazzolo, Roberto, Henley, Jeremy M., Battaglia, Giuseppe, Pittaluga, Anna

    Published 2008
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  6. 6
    Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function

    Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function by Conti, Valerio, Aracri, Patrizia, Chiti, Laura, Brusco, Simone, Mari, Francesco, Marini, Carla, Albanese, Maria, Marchi, Angela, Liguori, Claudio, Placidi, Fabio, Romigi, Andrea, Becchetti, Andrea, Guerrini, Renzo

    Published 2015
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  7. 7
    Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

    Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity by Cellini, Elena, Vetro, Annalisa, Conti, Valerio, Marini, Carla, Doccini, Viola, Clementella, Claudia, Parrini, Elena, Giglio, Sabrina, Della Monica, Matteo, Fichera, Marco, Musumeci, Sebastiano Antonino, Guerrini, Renzo

    Published 2019
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  8. 8
    Large-scale, cell-resolution volumetric mapping allows layer-specific investigation of human brain cytoarchitecture

    Large-scale, cell-resolution volumetric mapping allows layer-specific investigation of human brain cytoarchitecture by Costantini, Irene, Mazzamuto, Giacomo, Roffilli, Matteo, Laurino, Annunziatina, Maria Castelli, Filippo, Neri, Mattia, Lughi, Giovanni, Simonetto, Andrea, Lazzeri, Erica, Pesce, Luca, Destrieux, Christophe, Silvestri, Ludovico, Conti, Valerio, Guerrini, Renzo, Saverio Pavone, Francesco

    Published 2021
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  9. 9
    Albuminuria and Glomerular Damage in Mice Lacking the Metabotropic Glutamate Receptor 1

    Albuminuria and Glomerular Damage in Mice Lacking the Metabotropic Glutamate Receptor 1 by Puliti, Aldamaria, Rossi, Pia Irene Anna, Caridi, Gianluca, Corbelli, Alessandro, Ikehata, Masami, Armelloni, Silvia, Li, Min, Zennaro, Cristina, Conti, Valerio, Vaccari, Carlotta Maria, Cassanello, Michela, Calevo, Maria Grazia, Emionite, Laura, Ravazzolo, Roberto, Rastaldi, Maria Pia

    Published 2011
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  10. 10
    A versatile clearing agent for multi-modal brain imaging

    A versatile clearing agent for multi-modal brain imaging by Costantini, Irene, Ghobril, Jean-Pierre, Di Giovanna, Antonino Paolo, Mascaro, Anna Letizia Allegra, Silvestri, Ludovico, Müllenbroich, Marie Caroline, Onofri, Leonardo, Conti, Valerio, Vanzi, Francesco, Sacconi, Leonardo, Guerrini, Renzo, Markram, Henry, Iannello, Giulio, Pavone, Francesco Saverio

    Published 2015
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  11. 11
    Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy

    Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy by Pelorosso, Cristiana, Watrin, Françoise, Conti, Valerio, Buhler, Emmanuelle, Gelot, Antoinette, Yang, Xiaoxu, Mei, Davide, McEvoy-Venneri, Jennifer, Manent, Jean-Bernard, Cetica, Valentina, Ball, Laurel L, Buccoliero, Anna Maria, Vinck, Antonin, Barba, Carmen, Gleeson, Joseph G, Guerrini, Renzo, Represa, Alfonso

    Published 2019
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  12. 12
    Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies

    Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalize... by Costa, Anna-Maria, Lo Barco, Tommaso, Spezia, Elisabetta, Conti, Valerio, Roli, Laura, Marini, Lorenza, Minghetti, Sara, Caramaschi, Elisa, Pietrangelo, Laura, Pecoraro, Luca, D’Achille, Fabio, Accorsi, Paola, Trenti, Tommaso, Melani, Federico, Marini, Carla, Guerrini, Renzo, Darra, Francesca, Bergonzini, Patrizia, Biagini, Giuseppe

    Published 2022
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  13. 13
    Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial

    Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial by Galardi, Francesca, De Luca, Francesca, Biagioni, Chiara, Migliaccio, Ilenia, Curigliano, Giuseppe, Minisini, Alessandro M., Bonechi, Martina, Moretti, Erica, Risi, Emanuela, McCartney, Amelia, Benelli, Matteo, Romagnoli, Dario, Cappadona, Silvia, Gabellini, Stefano, Guarducci, Cristina, Conti, Valerio, Biganzoli, Laura, Di Leo, Angelo, Malorni, Luca

    Published 2021
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  14. 14
    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations by Conti, Valerio, Carabalona, Aurelie, Pallesi-Pocachard, Emilie, Leventer, Richard J., Schaller, Fabienne, Parrini, Elena, Deparis, Agathe A., Watrin, Françoise, Buhler, Emmanuelle, Novara, Francesca, Lise, Stefano, Pagnamenta, Alistair T., Kini, Usha, Taylor, Jenny C., Zuffardi, Orsetta, Represa, Alfonso, Keays, David Antony, Guerrini, Renzo, Falace, Antonio, Cardoso, Carlos

    Published 2017
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  15. 15
    Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia

    Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia by Kobow, Katja, Ziemann, Mark, Kaipananickal, Harikrishnan, Khurana, Ishant, Mühlebner, Angelika, Feucht, Martha, Hainfellner, Johannes A., Czech, Thomas, Aronica, Eleonora, Pieper, Tom, Holthausen, Hans, Kudernatsch, Manfred, Hamer, Hajo, Kasper, Burkhard S., Rössler, Karl, Conti, Valerio, Guerrini, Renzo, Coras, Roland, Blümcke, Ingmar, El‐Osta, Assam, Kaspi, Antony

    Published 2019
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  16. 16
    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly by Di Donato, Nataliya, Timms, Andrew E., Aldinger, Kimberly A., Mirzaa, Ghayda M., Bennett, James T., Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T., Rivière, Jean-Baptiste, Zaki, Maha S., Gleeson, Joseph G., Rump, Andreas, Conti, Valerio, Parrini, Elena, Ross, M. Elizabeth, Ledbetter, David H., Guerrini, Renzo, Dobyns, William B.

    Published 2018
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  17. 17
    Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

    Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy by Møller, Rikke S., Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E. Martina, Hiatt, Susan M., Prokop, Jeremy W., Bowling, Kevin M., Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H.G., Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M., Baulac, Stéphanie

    Published 2016
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  18. 18
    De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

    De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy by Fassio, Anna, Esposito, Alessandro, Kato, Mitsuhiro, Saitsu, Hirotomo, Mei, Davide, Marini, Carla, Conti, Valerio, Nakashima, Mitsuko, Okamoto, Nobuhiko, Olmez Turker, Akgun, Albuz, Burcu, Semerci Gündüz, C Nur, Yanagihara, Keiko, Belmonte, Elisa, Maragliano, Luca, Ramsey, Keri, Balak, Chris, Siniard, Ashley, Narayanan, Vinodh, Ohba, Chihiro, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi, Benfenati, Fabio, Guerrini, Renzo

    Published 2018
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  19. 19
    Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy

    Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy by Vasudevaraja, Varshini, Rodriguez, Javier Hernaez, Pelorosso, Cristiana, Zhu, Kaicen, Buccoliero, Anna Maria, Onozato, Maristela, Mohamed, Hussein, Serrano, Jonathan, Tredwin, Lily, Garonzi, Marianna, Forcato, Claudio, Zeck, Briana, Ramaswami, Sitharam, Stafford, James, Faustin, Arline, Friedman, Daniel, Hidalgo, Eveline Teresa, Zagzag, David, Skok, Jane, Heguy, Adriana, Chiriboga, Luis, Conti, Valerio, Guerrini, Renzo, Iafrate, A John, Devinsky, Orrin, Tsirigos, Aristotelis, Golfinos, John G, Snuderl, Matija

    Published 2020
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  20. 20
    International consensus recommendations on the diagnostic work-up for malformations of cortical development

    International consensus recommendations on the diagnostic work-up for malformations of cortical development by Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., Di Donato, Nataliya

    Published 2020
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