Search Results - "Mancardi, M"

Treatment of MOG antibody associated disorders: results of an international survey by Whittam, D. H., Karthikeayan, V., Gibbons, E., Kneen, R., Chandratre, S., Ciccarelli, O., Hacohen, Y., de Seze, J., Deiva, K., Hintzen, R. Q., Wildemann, B., Jarius, S., Kleiter, I., Rostasy, K., Huppke, P., Hemmer, B., Paul, F., Aktas, O., Pröbstel, A. K., Arrambide, G., Tintore, M., Amato, M. P., Nosadini, M., Mancardi, M. M., Capobianco, M., Illes, Z., Siva, A., Altintas, A., Akman-Demir, G., Pandit, L., Apiwattankul, M., Hor, J. Y., Viswanathan, S., Qiu, W., Kim, H. J., Nakashima, I., Fujihara, K., Ramanathan, S., Dale, R. C., Boggild, M., Broadley, S., Lana-Peixoto, M. A., Sato, D. K., Tenembaum, S., Cabre, P., Wingerchuk, D. M., Weinshenker, B. G., Greenberg, B., Matiello, M., Klawiter, E. C., Bennett, J. L., Wallach, A. I., Kister, I., Banwell, B. L., Traboulsee, A., Pohl, D., Palace, J., Leite, M. I., Levy, M., Marignier, R., Solomon, T., Lim, M., Huda, S., Jacob, A.

“…Introduction While monophasic and relapsing forms of myelin oligodendrocyte glycoprotein antibody associated disorders (MOGAD) are increasingly diagnosed…”
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An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy by STRIANO, P, COPPOLA, A, RASMINI, P, BESANA, D, COPPOLA, G. G, ELIA, M, GRANATA, T, VECCHI, M, VIGEVANO, F, VIRI, M, GAGGERO, R, STRIANO, S, PEZZELLA, M, ZARA, F, CIAMPA, C, SPECCHIO, N, RAGONA, F, MANCARDI, M. M, GENNARO, E, BECCARIA, F, CAPOVILLA, G

“…To conduct an open-label, add-on trial on safety and efficacy of levetiracetam in severe myoclonic epilepsy of infancy (SMEI). SMEI patients were recruited…”
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Noninvasive Assessment of Hemodynamic Stress Distribution after Indirect Revascularization for Pediatric Moyamoya Vasculopathy by Tortora, D, Severino, M, Pacetti, M, Morana, G, Mancardi, M M, Capra, V, Cama, A, Pavanello, M, Rossi, A

“…Indirect revascularization surgery is an effective treatment in children with Moyamoya vasculopathy. In the present study, we hypothesized that DSC-PWI may…”
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17q23.3 de novo microdeletion involving only TANC2 gene: A new case by Tassano, E., Accogli, A., Ronchetto, P., Tortora, D., Tavella, E., Gimelli, G., Mancardi, M., Malacarne, M., Coviello, D.A.

“…Neurodevelopmental disorders (NDDs) show a wide range of overlapping clinical features. Intellectual disability (ID), developmental delay (DD), autism spectrum…”
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Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience by Fischetto, Rita, Palladino, Valentina, Mancardi, Maria M., Giacomini, Thea, Palladino, Stefano, Gaeta, Alberto, Di Rocco, Maja, Zampini, Lucia, Lassandro, Giuseppe, Favia, Vito, Tripaldi, Maria E., Strisciuglio, Pietro, Romano, Alfonso, Severino, Mariasavina, Morrone, Amelia, Giordano, Paola

“…Background In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral…”
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Gluten psychosis: A case report and review of literature by Lionetti, E, Leonardi, S, Franzonello, C, Mancardi, M, Ruggieri, M, Catassi, C

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Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathy by Mirabelli-Badenier, M, Biancheri, R, Morana, G, Fornarino, S, Siri, L, Celle, M.E, Veneselli, E, Vincent, A, Gaggero, R, Mancardi, M.M

“…Abstract Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a well-defined autoimmune disorder. Hashimoto's encephalopathy (HE) is a still…”
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Mesial Temporal Sclerosis as Late Consequence of Posterior Reversible Encephalopathy Syndrome in Pediatric Hemato-oncologic Patients by Faraci, Maura, Nobile, Giulia, Nobili, Lino, Masetti, Riccardo, Cordelli, Duccio, Toni, Francesco, Giardino, Stefano, Morana, Giovanni, Mancardi, Maria M.

“…Drug resistant epilepsy has rarely been reported following posterior reversible encephalopathy syndrome (PRES), with few cases of mesial temporal sclerosis…”
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Hashimoto's encephalopathy with selective involvement of the nucleus accumbens: a case report by Mancardi, M M, Fazzini, F, Rossi, A, Gaggero, R

“…Hashimoto's encephalopathy (HE) is an acute or subacute relapsing disorder usually affecting euthyroid patients with evidence of autoimmune thyroiditis. The…”
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Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome by Accogli, Andrea, Scala, Marcello, Calcagno, Annalisa, Castello, Raffaele, Torella, Annalaura, Musacchia, Francesco, Allegri, Anna M. E., Mancardi, Maria M., Maghnie, Mohamad, Severino, Mariasavina, Nigro, Vincenzo, Capra, Valeria

“…THO/TREX (transcription/export) is a conserved eukaryotic complex that plays a crucial role in gene expression and prevents DNA damage during mitosis and…”
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Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism by Fornarino, Stefania, Stagnaro, Michela, Rinelli, Martina, Tiziano, Danilo, Mancardi, Margherita M, Traverso, Maria, Veneselli, Edvige, De Grandis, Elisa

“…Mutations in the ATP1A3 gene, which encodes the alpha sub(3) subunit of sodium-potassium ATPase, are related to rapid-onset dystonia-parkinsonism (RDP) and,…”
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Guidelines for Vascular Anomalies by the Italian Society for the study of Vascular Anomalies (SISAV) by Stillo, Francesco, Mattassi, Raul, Diociaiuti, Andrea, Neri, Iria, Baraldini, Vittoria, Dalmonte, Pietro, Amato, Bruno, Ametrano, Orsola, Amico, Giulia, Bianchini, Giuseppe, Campisi, Corradino, Cattaneo, Elisa, Causin, Francesco, Cavalli, Riccardo, Colletti, Giacomo, Corbeddu, Marialuisa, Coppo, Paola, DE Fiores, Antonio, DI Giuseppe, Piero, El Hachem, May, Esposito, Francesco, Fulcheri, Ezio, Gandolfo, Carlo, Grussu, Francesca, Guglielmo, Alba, Leuzzi, Miriam, Manunza, Francesca, Moneghini, Laura, Monzani, Nicola, Nicodemi, Ezio, Occella, Corrado, Orso, Massimiliano, Pagella, Fabio, Paolantonio, Guglielmo, Pasetti, Francesco, Rollo, Massimo, Ruggiero, Federica, Santecchia, Luigino, Spaccini, Luigina, Taurino, Maurizio, Vaghi, Massimo, Vercellio, Gianni, Zama, Mario, Zocca, Alfredo, Aguglia, Maria, Castronovo, Enza L, DE Lorenzi, Elena, Fontana, Elena, Gusson, Elena, Lanza, Jessica, Lizzio, Roberta, Mancardi, Maria M, Rosina, Erica

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Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants by Malerba, Federica, Alberini, Giulio, Balagura, Ganna, Marchese, Francesca, Amadori, Elisabetta, Riva, Antonella, Vari, Maria Stella, Gennaro, Elena, Madia, Francesca, Salpietro, Vincenzo, Angriman, Marco, Giordano, Lucio, Accorsi, Patrizia, Trivisano, Marina, Specchio, Nicola, Russo, Angelo, Gobbi, Giuseppe, Raviglione, Federico, Pisano, Tiziana, Marini, Carla, Mancardi, Maria M., Nobili, Lino, Freri, Elena, Castellotti, Barbara, Capovilla, Giuseppe, Coppola, Antonietta, Verrotti, Alberto, Martelli, Paola, Miceli, Francesco, Maragliano, Luca, Benfenati, Fabio, Cilio, Maria R., Johannesen, Kathrine M., Møller, Rikke S., Ceulemans, Berten, Minetti, Carlo, Weckhuysen, Sarah, Zara, Federico, Taglialatela, Maurizio, Striano, Pasquale

“…Early identification of de novo variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic…”
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Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy by Papa, Filomena T, Mancardi, Maria M, Frullanti, Elisa, Fallerini, Chiara, Della Chiara, Veronica, Zalba-Jadraque, Laura, Baldassarri, Margherita, Gamucci, Alessandra, Mari, Francesca, Veneselli, Edvige, Renieri, Alessandra

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Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex: a questionnaire-based study by Moavero, R., Voci, A., La Briola, F., Matricardi, S., Toldo, I., Mancardi, M., Negrin, S., Vigevano, F., Mazzone, L., Valeriani, M., Curatolo, P., Bruni, O.

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IAP042 Opsoclonus-Myoclonus-Ataxia: neuropsychological and neuroradiological sequelae by De Grandis, E, Battaglia, F, Pessagno, A, Liberati, P, Angelini, P, Conte, M, Gandolfo, C, Morana, G, Mancardi, M, Veneselli, E

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Type 1 diabetes and epilepsy: More than a casual association? by Mancardi, Maria M., Striano, Pasquale, Giannattasio, Alessandro, Baglietto, Maria G., Errichiello, Luca, Zara, Federico, Prato, Giulia, Minuto, Nicola, Veneselli, Edvige, Lorini, Renata, D’Annunzio, Giuseppe

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KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum by Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, Rubboli, Guido

“…Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental…”
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TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features by Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J, Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, J Lloyd, Lesca, Gaetan, Mancardi, Maria M, Poulat, Anne L, Repetto, Gabriela M, Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E, Bosch, Friedrich, Brockmann, Knut, Cross, J Helen, Doummar, Diane, Félix, Temis M, Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M, Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T, Peluso, Silvio, Mey, Antje, Rice, Gregory M, Rosenfeld, Jill A, Taylor, Jenny C, Troester, Matthew M, Stanley, Christine M, Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R, Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F, Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B, Oliver, Karen L, Berkovic, Samuel F, Scheffer, Ingrid E, de Falco, Fabrizio A, Oliver, Peter L, Striano, Pasquale, Zara, Federico, Campeau, Phillipe M, Sisodiya, S.M

“…OBJECTIVE:To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS:We acquired new clinical, EEG, and neuroimaging data of 11…”
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Mesial Temporal Sclerosis as Late Consequence of Posterior Reversible Encephalopathy Syndrome in Pediatric Haemato-oncological Patients by Faraci, Maura, Nobile, Giulia, Nobili, Lino, Masetti, Riccardo, Cordelli, Duccio, Toni, Francesco, Giardino, Stefano, Morana, Giovanni, Mancardi, Maria M.

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