Zobrazeno 1 - 10
of 746
pro vyhledávání: '"Battini Roberta"'
Autor:
Caron, Giulia, Lamacchia, Lorenzo, Francisco, Serena, Brusco, Alfredo, Pullano, Verdiana, Baj, Gabriele, Gurgone, Antonia, Chiantia, Giuseppe, Giustetto, Maurizio, Russo, Silvia, Higgins, Anna J., van Putte, Wouter, Vecchia, Stefania Della, Battini, Roberta, Maria Santorelli, Filippo, Sebastiano, Matteo Rossi, Hadano, Shinji, Cesca, Fabrizia, Ermondi, Giuseppe
Publikováno v:
In Drug Discovery Today October 2024 29(10)
Autor:
Bartolini, Emanuele, Ferrari, Anna Rita, Santorelli, Filippo Maria, Salluce, Carmen, Astrea, Guja, Marinella, Gemma, Papoff, Francesca Maria Agostina, Orsini, Alessandro, Battini, Roberta
Publikováno v:
In Seizure: European Journal of Epilepsy October 2024 121:186-193
Autor:
Coratti, Giorgia, Pane, Marika, Brogna, Claudia, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria A., Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Sframeli, Maria, Catteruccia, Michela, Cicala, Gianpaolo, Capasso, Anna, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Scutifero, Marianna, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico, Nigro, Vincenzo, Politano, Luisa, Mercuri, Eugenio
Publikováno v:
In Neuromuscular Disorders January 2024 34:75-82
Autor:
Spagnoli, Carlotta1 carlotta.spagnoli@ausl.re.it, Battini, Roberta2, Manti, Filippo3, Cordelli, Duccio Maria4, Pession, Andrea5,6, Bellini, Melissa7, Bordugo, Andrea8, Cantalupo, Gaetano9,10, P., Antonella Riva11,12
Publikováno v:
Behavioural Neurology. 4/9/2024, Vol. 2024, p1-7. 7p.
Autor:
Santorelli Filippo Maria, Garavaglia Barbara, Cardona Francesco, Nardocci Nardo, Bernardina Bernardo Dalla, Sartori Stefano, Suppiej Agnese, Bertini Enrico, Claps Dianela, Battini Roberta, Biancheri Roberta, Filocamo Mirella, Pezzini Francesco, Simonati Alessandro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 19 (2013)
Abstract Background To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations. Methods A cohort of NC
Externí odkaz:
https://doaj.org/article/8e74adf9acf94006a8ea22448afda1b1
Akademický článek
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Autor:
Chilosi Annamaria, Casarano Manuela, Comparini Alessandro, Battaglia Francesca, Mancardi Margherita, Schiaffino Cristina, Tosetti Michela, Leuzzi Vincenzo, Battini Roberta, Cioni Giovanni
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 43 (2012)
Abstract Background SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behaviour and epilepsy (CR
Externí odkaz:
https://doaj.org/article/f38bcee5b2d64cd6b708ba9c5ab5148b
Autor:
Buchignani, Bianca, Cicala, Gianpaolo, Moriconi, Federica, Ricci, Martina, Capasso, Anna, Coratti, Giorgia, Casiraghi, Jacopo, Albamonte, Emilio, Cristofani, Paola, Cutrona, Costanza, Pera, Maria C., Antonaci, Laura, Roncoroni, Camilla, Chieffo, Daniela, Sansone, Valeria A., Battini, Roberta, Pane, Marika, Mercuri, Eugenio
Publikováno v:
In Neuromuscular Disorders October 2023 33(10):711-717
Autor:
Fiorentini, Erika, Giunti, Laura, Di Rita, Andrea, Peraio, Simone, Fonte, Carla, Caporalini, Chiara, Buccoliero, Anna Maria, Censullo, Maria Luigia, Gori, Giulia, Noris, Alice, Pasquariello, Rosa, Battini, Roberta, Pavone, Rossana, Giordano, Flavio, Giglio, Sabrina, Rinaldi, Berardo
Publikováno v:
In European Journal of Medical Genetics July 2023 66(7)
Autor:
Claassen, Daniel O., Riordan, Heather R., Dure, Leon S., Battini, Roberta, Cortez, Alma, Gordon, Mark Forrest, O'Connor, Meaghan, Jackson, Kristi, Foster, April, Kosinski, Mark
Publikováno v:
In Pediatric Neurology April 2023 141:65-71