Zobrazeno 1 - 10
of 3 102
pro vyhledávání: '"A. Mancardi"'
Autor:
Bergonzini, Luca, Leardini, Davide, Rao, Roberta, Foiadelli, Thomas, Faraci, Maura, Mancardi, Maria Margherita, Nobile, Giulia, Orsini, Alessandro, Savasta, Salvatore, Gottardi, Francesca, Fetta, Anna, Mina, Tommaso, Casazza, Gabriella, Menconi, Maria Cristina, Pruna, Dario, Mura, Rosa Maria, Piroddi, Antonio, Rucci, Paola, Masetti, Riccardo, Cordelli, Duccio Maria
Publikováno v:
In Seizure: European Journal of Epilepsy October 2024 121:85-90
Autor:
De Falco, Alessandro, De Dominicis, Angela, Trivisano, Marina, Specchio, Nicola, Digilio, Maria Cristina, Piscopo, Carmelo, Capra, Valeria, Scala, Marcello, Iacomino, Michele, Accogli, Andrea, Romano, Ferruccio, Salpietro, Vincenzo, Mancardi, Margherita, Striano, Pasquale, Operto, Francesca Felicia, Gburek-Augustat, Janina, Perrin, Laurence, Capri, Yline, Lupo, Viviana, Elia, Maurizio, Manti, Filippo, Pisani, Francesco, Brunetti-Pierri, Nicola, Terrone, Gaetano
Publikováno v:
In European Journal of Paediatric Neurology January 2025 54:8-17
Autor:
Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and
Externí odkaz:
https://doaj.org/article/ba10327d06cc4e8da9702f9d1003ec3b
Publikováno v:
Chemical Engineering Transactions, Vol 26 (2012)
This paper shows the tools developed to collect, analyse and manage the data needed for risk assessment, within a large project integration activity in a country not covered by the safety regulations typical of European countries and the US. The proj
Externí odkaz:
https://doaj.org/article/a8a7cbe5967b480992559d31e2ce4ed8
Autor:
Pigliasco, Federica, Cafaro, Alessia, Barco, Sebastiano, Stella, Manuela, Mattioli, Francesca, Riva, Antonella, Mancardi, Maria Margherita, Lattanzi, Simona, Bandettini, Roberto, Striano, Pasquale, Cangemi, Giuliana
Publikováno v:
In Journal of Pharmaceutical and Biomedical Analysis 1 August 2024 245
Autor:
Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E.H., van Jaarsveld, Richard H., Oegema, Renske, van Gassen, Koen L.I., Holwerda, Sjoerd J.B., Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y., Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K., Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan
Publikováno v:
In The American Journal of Human Genetics 6 June 2024 111(6):1206-1221
Autor:
Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, Guerrini, Renzo
Publikováno v:
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
Autor:
Mancardi, Giulia, Mikolajczyk, Alicja, Annapoorani, Vigneshwari K., Bahl, Aileen, Blekos, Kostas, Burk, Jaanus, Çetin, Yarkın A., Chairetakis, Konstantinos, Dutta, Sutapa, Escorihuela, Laura, Jagiello, Karolina, Singhal, Ankush, van der Pol, Rianne, Bañares, Miguel A., Buchete, Nicolae-Viorel, Calatayud, Monica, Dumit, Verónica I., Gardini, Davide, Jeliazkova, Nina, Haase, Andrea, Marcoulaki, Effie, Martorell, Benjamí, Puzyn, Tomasz, Agur Sevink, G.J., Simeone, Felice C., Tämm, Kaido, Chiavazzo, Eliodoro
Publikováno v:
In Materials Today July-August 2023 67:344-370
Autor:
Costanza Varesio, Valentina De Giorgis, Pierangelo Veggiotti, Nardo Nardocci, Tiziana Granata, Francesca Ragona, Ludovica Pasca, Martina Maria Mensi, Renato Borgatti, Sara Olivotto, Roberto Previtali, Antonella Riva, Maria Margherita Mancardi, Pasquale Striano, Mara Cavallin, Renzo Guerrini, Francesca Felicia Operto, Alice Pizzolato, Ruggero Di Maulo, Fabiola Martino, Andrea Lodi, Carla Marini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and lifelong treatment. Patient registries are powerful tools providing insights
Externí odkaz:
https://doaj.org/article/e782272d1e5e409fbba62870009607c4
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