Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Melania, Giannotta"'
Autor:
Marika Pane, Beatrice Berti, Anna Capasso, Giorgia Coratti, Antonio Varone, Adele D’Amico, Sonia Messina, Riccardo Masson, Valeria Ada Sansone, Maria Alice Donati, Caterina Agosto, Claudio Bruno, Federica Ricci, Antonella Pini, Delio Gagliardi, Massimiliano Filosto, Stefania Corti, Daniela Leone, Concetta Palermo, Roberta Onesimo, Roberto De Sanctis, Martina Ricci, Ilaria Bitetti, Maria Sframeli, Claudia Dosi, Emilio Albamonte, Chiara Ticci, Noemi Brolatti, Enrico Bertini, Richard Finkel, Eugenio Mercuri, Maria Carmela Pera, Chiara Bravetti, Marco Piastra, Orazio Genovese, Gianpaolo Cicala, Nicola Forcina, Sara Carnicella, Giulia Stanca, Michele Sacchini, Michela Catteruccia, Michele Tosi, Renato Cutrera, Claudio Chierchi, Maria Beatrice Chiarini, Francesca Salmin, Marina Pedemonte, Alessandra Govoni, Irene Mizzoni, Simone Morando, Riccardo Zanin, Enrica Rolle, Eleonora Salomon, Melania Giannotta, Gaia Scarpini, Antonio Toscano, Eloisa Gitto, Roberto Materia, Rossella D’Alessandro
Publikováno v:
EClinicalMedicine, Vol 59, Iss , Pp 101997- (2023)
Summary: Background: Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months and
Externí odkaz:
https://doaj.org/article/40165d9821824625a9a6285a88f2fdbc
Autor:
Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-20 (2022)
Abstract Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myo
Externí odkaz:
https://doaj.org/article/3ed5f40b63494afb99f982bee9a3292a
Autor:
Angelo Russo, Michael Duchowny, Antonella Boni, Melania Giannotta, Melissa Filippini, Giuseppe Gobbi
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 8, Iss C, Pp 35-39 (2017)
Infants with West Syndrome and underlying structural pathology typically experience persistent symptomatic focal seizures and intellectual disability. We performed a retrospective case review of 84 patients with West Syndrome evaluated at one institu
Externí odkaz:
https://doaj.org/article/c18202cf5c754570b338a352fe984e21
Publikováno v:
Acta Myol
Neuromuscular diseases are rare and usually chronic progressive disorders that require a multidisciplinary clinical evaluation and functional monitoring. The patient-physician relationship and therapies are also key elements to be provided. The COVID
Autor:
Coratti, Giorgia, Lenkowicz, Jacopo, Norcia, Giulia, Lucibello, Simona, Ferraroli, Elisabetta, D'Amico, Adele, Bello, Luca, Pegoraro, Elena, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Berardinelli, Angela, Masson, Riccardo, Previtali, Stefano C, D'Angelo, Grazia, Magri, Francesca, Comi, Giacomo P, Politano, Luisa, Passamano, Luigia, Vita, Gianluca, Sansone, Valeria A, Albamonte, Emilio, Panicucci, Chiara, Bruno, Claudio, Pini, Antonella, Bertini, Enrico Silvio, Patarnello, Stefano, Pane, Marika, Mercuri, Eugenio Maria, Fanelli, Lavinia, Nicola, Forcina, Giulia, Stanca, Sara, Carnicella, De Sanctis, Roberto, Brogna, Claudia, Cutrona, Costanza, Anna Lia Frongia, Pera, Maria Carmela, Laura, Antonaci, Gloria, Ferrantini, Beatrice, Berti, Daniela, Leone, Concetta, Palermo, Melania, Giannotta, Giulia, Colia, Adelina, Carlesi, Giacomo De Luca, Irene, Mizzoni, Annamaria, Bonetti, Michela, Catteruccia, Vincenzo Di Bella, Maria, Sframeli, Massimo, Russo, Enrica, Rolle, Alice, Gardani, Stefano, Parravicini, Riccardo, Zanin, Maria Teresa Arnoldi, Claudia, Dosi, Ilaria, Pedrinelli, Giovanni, Baranello, Emilio, Albamonte, Francesca, Salmin, Simone, Morando
The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys affected by Duchenne Muscular Dystrophy who were assessed using the North Star Ambulatory Ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aa9c49feef49586c4f2f72799b6b529
http://hdl.handle.net/10807/213688
http://hdl.handle.net/10807/213688
Autor:
Melissa Filippini, Antonella Boni, Melania Giannotta, Angelo Russo, Giuseppe Gobbi, Michael Duchowny
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 8, Iss C, Pp 35-39 (2017)
Epilepsy & Behavior Case Reports
Epilepsy & Behavior Case Reports
Infants with West Syndrome and underlying structural pathology typically experience persistent symptomatic focal seizures and intellectual disability. We performed a retrospective case review of 84 patients with West Syndrome evaluated at one institu
Autor:
Angelo Russo, Maryse Lassonde, Melania Giannotta, Melissa Filippini, Giuseppe Gobbi, Muriel Assunta Musti, Antonella Pini, Angelo Guerra, Antonella Boni
Publikováno v:
Epilepsia. 56:726-734
Summary Objective The mismatch negativity (MMN) is an objective measure of central auditory discrimination. MMN alterations have been shown in children with language and/or developmental disorders. In benign focal epilepsies, neuropsychological disor
Autor:
Melania Giannotta, Maria Grazia Calevo, Marcella Gherzi, Maria Rosaria Vavassori, Michela Stagnaro, Edvige Veneselli, Elisa De Grandis, Livia Pisciotta
Publikováno v:
Braindevelopment. 39(6)
Background Alternating Hemiplegia of Childhood (AHC) is a severe disorder. Several drugs have been administered as prophylaxis for paroxysmal attacks, however, no therapy is completely effective. Methods Our aim is to review the pharmacological data
Autor:
F. Ebinger, Guenter Sange, Giuseppe Gobbi, Jaume Campistol, Georg Spiel, L.A.E.M. Laan, Eleni Panagiotakaki, Paul Casaer, Tsveta Schyns, D. Poncelin, Rosaria Vavassori, Brian G. R. Neville, Alexis Arzimanoglou, Miriam Ninan, Soňa Nevšímalová, Melania Giannotta, Rafael Artuch, Carmen Fons
Publikováno v:
European Journal of Paediatric Neurology. 16:10-14
Alternating hemiplegia of childhood (AHC) is a rare disorder with diagnosis based on clinical criteria, as no laboratory, neuroradiological or genetic markers are currently available. The pathogenic mechanisms are still an enigma. Some hypotheses hav
Autor:
Francesca Madia, Bernardo Dalla Bernardina, Maurizio Viri, Piernanda Vigliano, Margherita Santucci, Maria Luisa Lispi, Annarita Ferrari, Elena Gennaro, Roberto Gaggero, Daniela Buti, Francesca Vanadia, Pierangelo Veggiotti, Amedeo Bianchi, Tiziana Granata, Lucio Giordano, Melania Giannotta, Lorita La Selva, Franca Dagna Bricarelli, Elena Fontana, Massimiliano Cecconi, Maurizio Elia, Federico Zara, Giuseppe Capovilla
Publikováno v:
Epilepsy Research. 53:196-200
Severe myoclonic epilepsy of infancy (SMEI) has been long suspected to have a genetic origin. Recently mutations in the gene encoding a voltage-gated α-1 sodium channel subunit—SCN1A—have been identified as a common cause of SMEI. Moreover, a mu