Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Silvia Masnada"'
Autor:
Carlotta Spagnoli, Maddalena Duca, Veronica Pelliccia, Jacopo Lanzone, Silvia Masnada, Daniela Chiarello, Tommaso Lo Barco, Fedele Dono, Bruna Nucera
Publikováno v:
Epilepsia Open, Vol 9, Iss 2, Pp 613-625 (2024)
Abstract Objective The Education and Career Task Force of the Young Epilepsy Section‐Italy focuses on educational and career development needs of young Italian epileptologists. Two surveys were developed (pre‐ and post COVID‐19 pandemic) in ord
Externí odkaz:
https://doaj.org/article/a55f2bbdf35d481186aee6bb570108c9
Autor:
Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti
Publikováno v:
Epilepsia Open, Vol 9, Iss 1, Pp 106-121 (2024)
Abstract Objective Adenylosuccinate lyase (ADSL) deficiency is a rare inherited metabolic disorder with a wide phenotypic presentation, classically grouped into three types (neonatal, type I, and type II). We aim to better delineate the pathological
Externí odkaz:
https://doaj.org/article/824525d7bb3b493c91fbe235e276060d
Autor:
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/3fe63f5679824882a78a685fa671eea6
Autor:
Roberto Previtali, Giorgia Prontera, Enrico Alfei, Luisa Nespoli, Silvia Masnada, Pierangelo Veggiotti, Savina Mannarino
Publikováno v:
Pharmacological Research, Vol 195, Iss , Pp 106884- (2023)
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterised by abnormal cell proliferation and differentiation that affects multiple organs and can lead to the growth of hamartomas. Tuberous sclerosis complex is caused by the disi
Externí odkaz:
https://doaj.org/article/ff3bbe6209bd4fb3999a7df7e1ed0c2b
Autor:
Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 2, p 1248 (2024)
The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. Their outcomes vary from benign to severe disability. In this paper, we wished to retrospectively revie
Externí odkaz:
https://doaj.org/article/ada6bc1d4b3e4764896ca76a1f59cb82
Autor:
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala
Publikováno v:
Frontiers in Neurology, Vol 13 (2023)
IntroductionX-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the ABCD1 gene. The main phenotypes observed in men with X-ALD are primary adrenal insufficiency, adrenomyeloneuropathy, and cer
Externí odkaz:
https://doaj.org/article/8ddb7b61f9a94a7d98d8b68e6ba8ddab
Autor:
Luigi Francesco Iannone, Gabriele Arena, Domenica Battaglia, Francesca Bisulli, Paolo Bonanni, Antonella Boni, Maria Paola Canevini, Gaetano Cantalupo, Elisabetta Cesaroni, Manuela Contin, Antonietta Coppola, Duccio Maria Cordelli, Giovanni Cricchiuti, Valentina De Giorgis, Maria Fulvia De Leva, Marta De Rinaldis, Giuseppe d'Orsi, Maurizio Elia, Carlo Andrea Galimberti, Alessandra Morano, Tiziana Granata, Renzo Guerrini, Monica A. M. Lodi, Angela La Neve, Francesca Marchese, Silvia Masnada, Roberto Michelucci, Margherita Nosadini, Nicola Pilolli, Dario Pruna, Francesca Ragona, Anna Rosati, Margherita Santucci, Alberto Spalice, Nicola Pietrafusa, Pasquale Striano, Elena Tartara, Laura Tassi, Amanda Papa, Claudio Zucca, Emilio Russo, Oriano Mecarelli, The CBD LICE Italy Study Group
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Purified cannabidiol (CBD) was administered to highly refractory patients with Dravet (DS) or Lennox–Gastaut (LGS) syndromes in an ongoing expanded access program (EAP). Herein, we report interim results on CBD safety and seizure outcom
Externí odkaz:
https://doaj.org/article/49784ef07e554ec88badc2927a8fcd4e
Autor:
Jessica Garau, Silvia Masnada, Francesca Dragoni, Daisy Sproviero, Federico Fogolari, Stella Gagliardi, Giana Izzo, Costanza Varesio, Simona Orcesi, Pierangelo Veggiotti, Gian Vincenzo Zuccotti, Orietta Pansarasa, Davide Tonduti, Cristina Cereda
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Aicardi–Goutières Syndrome (AGS) is a rare disorder characterized by neurological and immunological signs. In this study we have described a child with a phenotype consistent with AGS carrying a novel compound heterozygous mutation in RNASEH2B gen
Externí odkaz:
https://doaj.org/article/bfb8e9e1e61240c6ac4979c64f0ecdd5
Autor:
Costanza Varesio, Ludovica Pasca, Stefano Parravicini, Martina Paola Zanaboni, Elena Ballante, Silvia Masnada, Cinzia Ferraris, Simona Bertoli, Anna Tagliabue, Pierangelo Veggiotti, Valentina De Giorgis
Publikováno v:
Nutrients, Vol 11, Iss 7, p 1650 (2019)
Background: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare, genetically determined neurological disorder, for which Ketogenic Diet (KD) represents the gold standard life-long treatment. The aim of this study is to investigate heal
Externí odkaz:
https://doaj.org/article/6d518439dcc849f7bd8907bb2ab5f9a5
Autor:
Silvia Masnada, Enrico Alfei, Manuela Formica, Roberto Previtali, Patrizia Accorsi, Filippo Arrigoni, Paolo Bonanni, Renato Borgatti, Francesca Darra, Carlo Fusco, Valentina De Giorgis, Lucio Giordano, Francesca La Briola, Simona Orcesi, Elisa Osanni, Cecilia Parazzini, Lorenzo Pinelli, Erika Rebessi, Romina Romaniello, Antonino Romeo, Carlotta Spagnoli, Christian Uebler, Costanza Varesio, Maurizio Viri, Claudio Zucca, Anna Pichiecchio, Pierangelo Veggiotti
Publikováno v:
Clinical Neurophysiology. 142:112-124
Descriptions of electroencephalographic (EEG) patterns in Aicardi syndrome (AIC) have to date referred to small cohorts of up to six cases and indicated severe derangement of electrical activity in all cases. The present study was conducted to descri