Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Gaudio, Luigi del"'
Autor:
Orlandi, Niccolò, Bartolini, Emanuele, Audenino, Daniela, Coletti Moja, Mario, Urso, Lidia, d'Orsi, Giuseppe, Pauletto, Giada, Nilo, Annacarmen, Zinno, Lucia, Cappellani, Roberto, Zummo, Leila, Giordano, Antonello, Dainese, Filippo, Nazerian, Peiman, Pescini, Francesca, Beretta, Simone, Dono, Fedele, Gaudio, Luigi del, Ferlisi, Monica, Marino, Daniela, Piccioli, Marta, Renna, Rosaria, Rosati, Eleonora, Rum, Adriana, Strigaro, Gionata, Giovannini, Giada, Meletti, Stefano *, Cavalli, Salvatore M., Contento, Margherita, Cottone, Salvatore, Di Claudio, Maria Teresa, Florindo, Irene, Guadagni, Martina, Kiferle, Lorenzo, Lazzaretti, Delia, Lazzari, Matilde, Coco, Daniele Lo, Pradella, Silvia, Rikani, Klaudio, Rodorigo, Davide, Sabetta, Annarita, Sicurella, Luigi, Tontini, Valentina, Turchi, Giulia, Vaudano, Anna E., Zanoni, Tiziano
Publikováno v:
In Seizure: European Journal of Epilepsy March 2021 86:70-76
Autor:
Galizia, Elizabeth C, Myers, Candace T, Leu, Costin, de Kovel, Carolien G F, Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G, Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V, Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S, Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L, Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G, Mullen, Saul A, Berkovic, Samuel F, Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D, Esguerra, Zara, Federico, Striano, Pasquale, Camila, V, Kasteleijn-Nolst Trenité, Dorothee G A, Koeleman, Bobby P C, Mefford, Heather C, Scheffer, Ingrid E, Sisodiya, Sanjay M
Publikováno v:
Brain
Galizia, E C, Myers, C T, Leu, C, de Kovel, C G F, Afrikanova, T, Cordero-Maldonado, M L, Martins, T G, Jacmin, M, Drury, S, Krishna Chinthapalli, V, Muhle, H, Pendziwiat, M, Sander, T, Ruppert, A-K, Møller, R S, Thiele, H, Krause, R, Schubert, J, Lehesjoki, A-E, Nürnberg, P, Lerche, H, Palotie, A, Coppola, A, Striano, S, Gaudio, L D, Boustred, C, Schneider, A L, Lench, N, Jocic-Jakubi, B, Covanis, A, Capovilla, G, Veggiotti, P, Piccioli, M, Parisi, P, Cantonetti, L, Sadleir, L G, Mullen, S A, Berkovic, S F, Stephani, U, Helbig, I, Crawford, A D, Esguerra, C V, Kasteleijn-Nolst Trenité, D G A, Koeleman, B P C, Mefford, H C, Scheffer, I E, Sisodiya, S M & EuroEPINOMICS CoGIE Consortium 2015, ' CHD2 variants are a risk factor for photosensitivity in epilepsy ', Brain, vol. 138, no. 5, pp. 1198-1208 . https://doi.org/10.1093/brain/awv052
Scopus-Elsevier
Brain, 138, 1198. Oxford University Press
Galizia, E C, Myers, C T, Leu, C, de Kovel, C G F, Afrikanova, T, Cordero-Maldonado, M L, Martins, T G, Jacmin, M, Drury, S, Krishna Chinthapalli, V, Muhle, H, Pendziwiat, M, Sander, T, Ruppert, A-K, Møller, R S, Thiele, H, Krause, R, Schubert, J, Lehesjoki, A-E, Nürnberg, P, Lerche, H, Palotie, A, Coppola, A, Striano, S, Gaudio, L D, Boustred, C, Schneider, A L, Lench, N, Jocic-Jakubi, B, Covanis, A, Capovilla, G, Veggiotti, P, Piccioli, M, Parisi, P, Cantonetti, L, Sadleir, L G, Mullen, S A, Berkovic, S F, Stephani, U, Helbig, I, Crawford, A D, Esguerra, C V, Kasteleijn-Nolst Trenité, D G A, Koeleman, B P C, Mefford, H C, Scheffer, I E, Sisodiya, S M & EuroEPINOMICS CoGIE Consortium 2015, ' CHD2 variants are a risk factor for photosensitivity in epilepsy ', Brain, vol. 138, no. 5, pp. 1198-1208 . https://doi.org/10.1093/brain/awv052
Scopus-Elsevier
Brain, 138, 1198. Oxford University Press
Photosensitivity in epilepsy is common and has high heritability, but its genetic basis remains uncertain. Galizia et al. reveal an overrepresentation of unique variants of CHD2 — which encodes the transcriptional regulator ‘chromodomain helicase
Autor:
Sorrentino, Pierpaolo, Barbato, Antonio, Gaudio, Luigi Del, Rucco, Rosaria, Varriale, Pasquale, Sibilio, Michelina, Strazzullo, Pasquale, Sorrentino, Giuseppe, Agosti, Valeria
Publikováno v:
Journal of Parkinson's Disease; 2016, Vol. 6 Issue 1, p191-195, 5p
Autor:
Agostinelli, Sergio, Accorsi, Patrizia, Beccaria, Francesca, Belcastro, Vincenzo, Canevini, Maria Paola, Capovilla, Giuseppe, Cappanera, Silvia, Bernardina, Bernardo Dalla, Darra, Francesca, Gaudio, Luigi Del, Elia, Maurizio, Falsaperla, Raffaele, Giordano, Lucio, Gobbi, Giuseppe, Minetti, Carlo, Nicita, Francesco, Parisi, Pasquale, Pavone, Piero, Pezzella, Marianna, Sesta, Michela
Publikováno v:
Epilepsia (Series 4); Oct2013, Vol. 54 Issue 10, p1761-1770, 10p
Autor:
Lia Santulli, Mario Cirillo, Federico Zara, Salvatore Striano, Luigi Del Gaudio, Monica Traverso, Francesca Madia, Carmela Caccavale, Pia Bernardo, Antonietta Coppola
The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818cafd03fd34b2b5ddf2e01eb32d827
http://hdl.handle.net/11588/722429
http://hdl.handle.net/11588/722429