Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation
Tonduti, Davide, Mura, Eleonora, Masnada, Silvia, Bertini, Enrico, Aiello, Chiara, Zini, Daniela, Parmeggiani, Lucio, Cantalupo, Gaetano, Talenti, Giacomo, Veggiotti, Pierangelo, Spaccini, Luigina, Iascone, Maria, Parazzini, Cecilia
Published in Journal of human genetics (01.10.2021)
Published in Journal of human genetics (01.10.2021)
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Journal Article
Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis
Bertoli, Simona, Masnada, Silvia, De Amicis, Ramona, Sangiorgio, Arianna, Leone, Alessandro, Gambino, Mirko, Lessa, Chiara, Tagliabue, Anna, Ferraris, Cinzia, De Giorgis, Valentina, Battezzati, Alberto, Zuccotti, Gian Vincenzo, Veggiotti, Pierangelo, Mameli, Chiara
Published in European journal of clinical nutrition (01.09.2020)
Published in European journal of clinical nutrition (01.09.2020)
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Journal Article
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
Cavirani, Benedetta, Spagnoli, Carlotta, Caraffi, Stefano Giuseppe, Cavalli, Anna, Cesaroni, Carlo Alberto, Cutillo, Gianni, De Giorgis, Valentina, Frattini, Daniele, Marchetti, Giulia Bruna, Masnada, Silvia, Peron, Angela, Rizzi, Susanna, Varesio, Costanza, Spaccini, Luigina, Vignoli, Aglaia, Canevini, Maria Paola, Veggiotti, Pierangelo, Garavelli, Livia, Fusco, Carlo
Published in International journal of molecular sciences (01.01.2024)
Published in International journal of molecular sciences (01.01.2024)
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Journal Article
Neurobehavioral consequences of continuous spike and waves during slow sleep (CSWS) in a pediatric population: A pattern of developmental hindrance
De Giorgis, Valentina, Filippini, Melissa, Macasaet, Joyce Ann, Masnada, Silvia, Veggiotti, Pierangelo
Published in Epilepsy & behavior (01.09.2017)
Published in Epilepsy & behavior (01.09.2017)
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Journal Article
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency
Masnada, Silvia, Parazzini, Cecilia, Bini, Paolo, Barbarini, Mario, Alberti, Luisella, Valente, Marialuisa, Chiapparini, Luisa, De Silvestri, Annalisa, Doneda, Chiara, Iascone, Maria, Saielli, Laura Assunta, Cereda, Cristina, Veggiotti, Pierangelo, Corbetta, Carlo, Tonduti, Davide
Published in European journal of paediatric neurology (01.09.2020)
Published in European journal of paediatric neurology (01.09.2020)
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Journal Article
Ruxolitinib in Aicardi-Goutières syndrome
Mura, Eleonora, Masnada, Silvia, Antonello, Clara, Parazzini, Cecilia, Izzo, Giana, Garau, Jessica, Sproviero, Daisy, Cereda, Cristina, Orcesi, Simona, Veggiotti, Pierangelo, Zuccotti, Gianvincenzo, Dilillo, Dario, Penagini, Francesca, Tonduti, Davide
Published in Metabolic brain disease (01.06.2021)
Published in Metabolic brain disease (01.06.2021)
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Journal Article
Educational needs and career development of young epileptologists in Italy
Spagnoli, Carlotta, Duca, Maddalena, Pelliccia, Veronica, Lanzone, Jacopo, Masnada, Silvia, Chiarello, Daniela, Barco, Tommaso Lo, Dono, Fedele, Nucera, Bruna
Published in Epilepsia open (01.04.2024)
Published in Epilepsia open (01.04.2024)
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Journal Article
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox–Gastaut Syndrome
Iannone, Luigi Francesco, Arena, Gabriele, Battaglia, Domenica, Bisulli, Francesca, Bonanni, Paolo, Boni, Antonella, Canevini, Maria Paola, Cantalupo, Gaetano, Cesaroni, Elisabetta, Contin, Manuela, Coppola, Antonietta, Cordelli, Duccio Maria, Cricchiuti, Giovanni, De Giorgis, Valentina, De Leva, Maria Fulvia, De Rinaldis, Marta, d'Orsi, Giuseppe, Elia, Maurizio, Galimberti, Carlo Andrea, Morano, Alessandra, Granata, Tiziana, Guerrini, Renzo, Lodi, Monica A. M., La Neve, Angela, Marchese, Francesca, Masnada, Silvia, Michelucci, Roberto, Nosadini, Margherita, Pilolli, Nicola, Pruna, Dario, Ragona, Francesca, Rosati, Anna, Santucci, Margherita, Spalice, Alberto, Pietrafusa, Nicola, Striano, Pasquale, Tartara, Elena, Tassi, Laura, Papa, Amanda, Zucca, Claudio, Russo, Emilio, Mecarelli, Oriano
Published in Frontiers in neurology (20.05.2021)
Published in Frontiers in neurology (20.05.2021)
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Journal Article
Quality of Life in Chronic Ketogenic Diet Treatment: The GLUT1DS Population Perspective
Varesio, Costanza, Pasca, Ludovica, Parravicini, Stefano, Zanaboni, Martina Paola, Ballante, Elena, Masnada, Silvia, Ferraris, Cinzia, Bertoli, Simona, Tagliabue, Anna, Veggiotti, Pierangelo, De Giorgis, Valentina
Published in Nutrients (19.07.2019)
Published in Nutrients (19.07.2019)
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Journal Article
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutières Syndrome
Garau, Jessica, Masnada, Silvia, Dragoni, Francesca, Sproviero, Daisy, Fogolari, Federico, Gagliardi, Stella, Izzo, Giana, Varesio, Costanza, Orcesi, Simona, Veggiotti, Pierangelo, Zuccotti, Gian Vincenzo, Pansarasa, Orietta, Tonduti, Davide, Cereda, Cristina
Published in Frontiers in immunology (26.04.2021)
Published in Frontiers in immunology (26.04.2021)
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Journal Article
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature
Cutillo, Gianni, Masnada, Silvia, Lesca, Gaetan, Ville, Dorothée, Accorsi, Patrizia, Giordano, Lucio, Pichiecchio, Anna, Valente, Marialuisa, Borrelli, Paola, Ferraro, Ottavia Eleonora, Veggiotti, Pierangelo
Published in Epilepsia open (01.02.2024)
Published in Epilepsia open (01.02.2024)
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Journal Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Wolff, Markus, Johannesen, Katrine M, Hedrich, Ulrike B S, Masnada, Silvia, Rubboli, Guido, Gardella, Elena, Lesca, Gaetan, Ville, Dorothée, Milh, Mathieu, Villard, Laurent, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Mignot, Cyril, Lardennois, Caroline, Nava, Caroline, Schwarz, Niklas, Gérard, Marion, Perrin, Laurence, Doummar, Diane, Auvin, Stéphane, Miranda, Maria J, Hempel, Maja, Brilstra, Eva, Knoers, Nine, Verbeek, Nienke, van Kempen, Marjan, Braun, Kees P, Mancini, Grazia, Biskup, Saskia, Hörtnagel, Konstanze, Döcker, Miriam, Bast, Thomas, Loddenkemper, Tobias, Wong-Kisiel, Lily, Baumeister, Friedrich M, Fazeli, Walid, Striano, Pasquale, Dilena, Robertino, Fontana, Elena, Zara, Federico, Kurlemann, Gerhard, Klepper, Joerg, Thoene, Jess G, Arndt, Daniel H, Deconinck, Nicolas, Schmitt-Mechelke, Thomas, Maier, Oliver, Muhle, Hiltrud, Wical, Beverly, Finetti, Claudio, Brückner, Reinhard, Pietz, Joachim, Golla, Günther, Jillella, Dinesh, Linnet, Karen M, Charles, Perrine, Moog, Ute, Õiglane-Shlik, Eve, Mantovani, John F, Park, Kristen, Deprez, Marie, Lederer, Damien, Mary, Sandrine, Scalais, Emmanuel, Selim, Laila, Van Coster, Rudy, Lagae, Lieven, Nikanorova, Marina, Hjalgrim, Helle, Korenke, G Christoph, Trivisano, Marina, Specchio, Nicola, Ceulemans, Berten, Dorn, Thomas, Helbig, Katherine L, Hardies, Katia, Stamberger, Hannah, de Jonghe, Peter, Weckhuysen, Sarah, Lemke, Johannes R, Krägeloh-Mann, Ingeborg, Helbig, Ingo, Kluger, Gerhard, Lerche, Holger, Møller, Rikke S
Published in Brain (London, England : 1878) (01.05.2017)
Published in Brain (London, England : 1878) (01.05.2017)
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Journal Article
3D facial morphometry in Italian patients affected by Aicardi syndrome
Masnada, Silvia, Gibelli, Daniele, Dolci, Claudia, De Giorgis, Valentina, Cappella, Annalisa, Veggiotti, Pierangelo, Sforza, Chiarella
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
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Journal Article
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies
Masnada, Silvia, Hedrich, Ulrike B S, Gardella, Elena, Schubert, Julian, Kaiwar, Charu, Klee, Eric W, Lanpher, Brendan C, Gavrilova, Ralitza H, Synofzik, Matthis, Bast, Thomas, Gorman, Kathleen, King, Mary D, Allen, Nicholas M, Conroy, Judith, Ben Zeev, Bruria, Tzadok, Michal, Korff, Christian, Dubois, Fanny, Ramsey, Keri, Narayanan, Vinodh, Serratosa, Jose M, Giraldez, Beatriz G, Helbig, Ingo, Marsh, Eric, O'Brien, Margaret, Bergqvist, Christina A, Binelli, Adrian, Porter, Brenda, Zaeyen, Eduardo, Horovitz, Dafne D, Wolff, Markus, Marjanovic, Dragan, Caglayan, Hande S, Arslan, Mutluay, Pena, Sergio D J, Sisodiya, Sanjay M, Balestrini, Simona, Syrbe, Steffen, Veggiotti, Pierangelo, Lemke, Johannes R, Møller, Rikke S, Lerche, Holger, Rubboli, Guido
Published in Brain (London, England : 1878) (01.09.2017)
Published in Brain (London, England : 1878) (01.09.2017)
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Journal Article
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features
Piccoli, Cara, Bronner, Nowa, Gavazzi, Francesco, Dubbs, Holly, De Simone, Micaela, De Giorgis, Valentina, Orcesi, Simona, Fazzi, Elisa, Galli, Jessica, Masnada, Silvia, Tonduti, Davide, Varesio, Costanza, Vanderver, Adeline, Vossough, Arastoo, Adang, Laura
Published in Pediatric neurology (01.02.2021)
Published in Pediatric neurology (01.02.2021)
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Journal Article
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency
Masnada, Silvia, Groenweg, Stefan, Saletti, Veronica, Chiapparini, Luisa, Castellotti, Barbara, Salsano, Ettore, Visser, W. Edward, Tonduti, Davide
Published in Metabolic brain disease (01.12.2019)
Published in Metabolic brain disease (01.12.2019)
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Journal Article
The spectrum of intermediate SCN8A‐related epilepsy
Johannesen, Katrine M., Gardella, Elena, Encinas, Alejandra C., Lehesjoki, Anna‐Elina, Linnankivi, Tarja, Petersen, Michael B., Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J., Pal, Deb K., Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice, Giacomini, Thea, Helbig, Ingo, Fenger, Christina D., Sisodiya, Sanjay M., Hernandez‐Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Bürki, Sarah E., Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, Spiczak, Sarah, Hoffman‐Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F., Varesio, Costanza, Veggiotti, Pierangelo, Lal, Dennis, Brünger, Tobias, Zara, Federico, Striano, Pasquale, Rubboli, Guido, Møller, Rikke S.
Published in Epilepsia (Copenhagen) (01.05.2019)
Published in Epilepsia (Copenhagen) (01.05.2019)
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Journal Article
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome
Masnada, Silvia, Sarret, Catherine, Antonello, Clara Eleonora, Fadilah, Ala, Krude, Heiko, Mura, Eleonora, Mordekar, Santosh, Nicita, Francesco, Olivotto, Sara, Orcesi, Simona, Porta, Francesco, Remerand, Ganaelle, Siri, Barbara, Wilpert, Nina-Maria, Amir-Yazdani, Pouneh, Bertini, Enrico, Schuelke, Markus, Bernard, Geneviève, Boespflug-Tanguy, Odile, Tonduti, Davide
Published in Molecular genetics and metabolism (01.01.2022)
Published in Molecular genetics and metabolism (01.01.2022)
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Journal Article
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients
Mura, Eleonora, Nicita, Francesco, Masnada, Silvia, Battini, Roberta, Ticci, Chiara, Montomoli, Martino, Berardinelli, Angela, Pantaleoni, Chiara, Ardissone, Anna, Foiadelli, Thomas, Tartara, Elena, Salsano, Ettore, Veggiotti, Pierangelo, Ceccherini, Isabella, Moroni, Isabella, Bertini, Enrico, Tonduti, Davide
Published in Molecular genetics and metabolism (01.12.2021)
Published in Molecular genetics and metabolism (01.12.2021)
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Journal Article