Search Results - "de Lucia, Silvana"

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial by Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Xiong, Hui, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Wang, Yi, Dodman, Angela, Gaki, Eleni, Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Khwaja, Omar, Scalco, Renata S, Seabrook, Timothy, Koch, Armin, Balikova, Irina, Tahon, Valentine, De Vos, Elke, de Holanda Mendonça, Rodrigo, Machado, Cleide, Polido, Graziela, Hu, Chaoping, Qian, Chen, Li, Hui, Zhou, Shuizhen, Zhou, Zhenxuan, Wei, Cuijie, Dong, Hui, Wen, Jing, Qin, Lun, Celovec, Ivan, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Boespflug-Tanguy, Odile, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Peche, Helene, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Tremolada, Gemma, Vigano, Marta, Dosi, Claudia, Zanin, Riccardo, Schembri, Veronica, Brolatti, Noemi, Rao, Giuseppe, Tassara, Elisa, Sposetti, Lorenza, Govoni, Alessandra, Osnaghi, Silvia Gabriella, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Pane, Marika, Palermo, Concetta, Barresi, Costanza, Orazi, Lorenzo, Laura, Antonaci, De Sanctis, Roberto, Berti, Beatrice, Kimura, Naoki, Shimomura, Hideki, Lee, Tomoko, Morimatsu, Takanobu, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Modrzejewska, Sandra, Lemska, Anna, Melnik, Evgenia, Leppenen, Natalya, Papina, Yulia, Shidlovsckaia, Olga, Enzmann, Cornelia, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ertugrul, Nesibe Eroglu, Konuskan, Bahadir, Alemdaroglu, Ipek, Sari, Seher, Karaduman, Aynur Ayse, Graham, Robert J, Ghosh, Partha, Levine, Alexis, Engelbrekt, Amanda, Ambrosio, Lucia, Baglieri, Anna Maria, Maczek, Elizabeth, Duong, Tina, Young, Sally

“…Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of…”
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Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study by Trucco, Federica, Ridout, Deborah, Domingos, Joana, Maresh, Kate, Chesshyre, Mary, Munot, Pinki, Sarkozy, Anna, Robb, Stephanie, Quinlivan, Rosaline, Riley, Mollie, Wallis, Colin, Chan, Elaine, Abel, Francois, De Lucia, Silvana, Hogrel, Jean‐Yves, Niks, Erik H., Groot, Imelda, Servais, Laurent, Straub, Volker, Ricotti, Valeria, Manzur, Adnan, Muntoni, Francesco

“…Introduction/Aims Mutations amenable to skipping of specific exons have been associated with different motor progression in Duchenne muscular dystrophy (DMD)…”
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Autoimmune pituitary involvement in Prader–Willi syndrome: new perspective for further research by Grugni, Graziano, Crinò, Antonino, De Bellis, Annamaria, Convertino, Alessio, Bocchini, Sarah, Maestrini, Sabrina, Cirillo, Paolo, De Lucia, Silvana, Delvecchio, Maurizio

“…The role of antipituitary antibodies in the pathophysiology of pituitary hormone deficiency has been increasingly elucidated over the last decade. Prader-Willi…”
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North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up by Coratti, Giorgia, Pane, Marika, Brogna, Claudia, Ricotti, Valeria, Messina, Sonia, D'Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federica, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Previtali, Stefano C, Politano, Luisa, Comi, Giacomo P, Sansone, Valeria A, Donati, Alice, Hogrel, Jean Yves, Straub, Volker, De Lucia, Silvana, Niks, Erik, Servais, Laurent, De Groot, Imelda, Chesshyre, Mary, Bertini, Enrico, Goemans, Nathalie, Muntoni, Francesco, Mercuri, Eugenio

“…Introduction The aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected…”
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Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy by Fouarge, Eve, Monseur, Arnaud, Boulanger, Bruno, Annoussamy, Mélanie, Seferian, Andreea M, De Lucia, Silvana, Lilien, Charlotte, Thielemans, Leen, Paradis, Khazal, Cowling, Belinda S, Freitag, Chris, Carlin, Bradley P, Servais, Laurent

“…Centronuclear myopathies are severe rare congenital diseases. The clinical variability and genetic heterogeneity of these myopathies result in major challenges…”
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Monochorionic monoamniotic twin pregnancy: Inpatient or outpatient management? Our experience by Vasciaveo, Lorenzo, Zanzarelli, Erika, De Lucia, Graziana Silvana, De Feo, Vincenzo, Mastricci, Anna Lucia, Nappi, Luigi

“…Entanglement of two umbilical cords in a MCMA twin pregnancy…”
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Paediatric arterial ischemic stroke: acute management, recent advances and remaining issues by Rosa, Margherita, De Lucia, Silvana, Rinaldi, Victoria Elisa, Le Gal, Julie, Desmarest, Marie, Veropalumbo, Claudio, Romanello, Silvia, Titomanlio, Luigi

“…Stroke is a rare disease in childhood with an estimated incidence of 1-6/100.000. It has an increasingly recognised impact on child mortality along with its…”
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EEG Patterns in Patients with Prader–Willi Syndrome by Elia, Maurizio, Rutigliano, Irene, Sacco, Michele, Madeo, Simona F., Wasniewska, Malgorzata, Li Pomi, Alessandra, Trifirò, Giuliana, Di Bella, Paolo, De Lucia, Silvana, Vetri, Luigi, Iughetti, Lorenzo, Delvecchio, Maurizio

“…Prader–Willi syndrome (PWS) is a rare disease determined by the loss of the paternal copy of the 15q11-q13 region, and it is characterized by hypotonia,…”
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Autoimmune pituitary involvement in Prader–Willi syndrome: new perspective for further research by Grugni, Graziano, Crinò, Antonino, De Bellis, Annamaria, Convertino, Alessio, Bocchini, Sarah, Maestrini, Sabrina, Cirillo, Paolo, De Lucia, Silvana, Delvecchio, Maurizio

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T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy by Anthony, Karen, Ala, Pierpaolo, Catapano, Francesco, Meng, Jinhong, Domingos, Joana, Perry, Mark, Ricotti, Valeria, Maresh, Kate, Phillips, Lauren C, Servais, Laurent, Seferian, Andreea M, De Lucia, Silvana, de Groot, Imelda, Krom, Yvonne D, Verschuuren, J G M, Niks, Erik H, Straub, Volker, Guglieri, Michela, Voit, Thomas, Morgan, Jennifer, Muntoni, Francesco

“…Duchenne muscular dystrophy (DMD) is caused by the lack of dystrophin, but many patients have rare revertant fibers that express dystrophin. The skeletal…”
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Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping by Mercuri, E., Seferian, A.M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., Deconinck, Nicolas, Van Coster, Rudy, Vanlander, Arnaud, Seferian, Andreea, De Lucia, Silvana, Gidaro, Teresa, Brande, Laura Vanden, Servais, Laurent, Kirschner, Janbernd, Borell, Sabine, Mercuri, Eugenio, Brogna, Claudia, Pane, Marika, Fanelli, Lavinia, Norcia, Giulia, Muntoni, Francesco, Brusa, Chiara, Chesshyre, Mary, Maresh, Kate, Pitchforth, Jaqueline, Schottlaender, Lucia, Scoto, Mariacristina, Silwal, Arpana, Trucco, Fedrica

“…•First clinical trial of eteplirsen in patients with DMD aged 6 to 48 months.•Safety experience was consistent with the known safety profile of…”
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Ketogenic diet therapies in France: State of the use in 2018 by Dozières-Puyravel, Blandine, François, Laurent, de Lucia, Silvana, Goujon, Estelle, Danse, Marion, Auvin, Stéphane

“…Ketogenic diets (KDs) are well-established treatments for pharmacoresistant epilepsies and some metabolic disorders. The amount of publications including…”
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Contribution of mast cells to injury mechanisms in a mouse model of pediatric traumatic brain injury by Moretti, Raffaella, Chhor, Vibol, Bettati, Donatella, Banino, Elena, De Lucia, Silvana, Le Charpentier, Tifenn, Lebon, Sophie, Schwendimann, Leslie, Pansiot, Julien, Rasika, Sowmyalakshmi, Degos, Vincent, Titomanlio, Luigi, Gressens, Pierre, Fleiss, Bobbi

“…The cognitive and behavioral deficits caused by traumatic brain injury (TBI) to the immature brain are more severe and persistent than injuries to the adult…”
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Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the Neuromuscular Commission of the French Society of Pediatric Neurology by Fontaine Carbonnel, Stéphanie, Dabaj, Ivana, de Montferrand, Camille, Rippert, Pascal, Laugel, Vincent, De Lucia, Silvana, Ravelli, Claudia, Seferian, Andreea, Ropars, Juliette, Cances, Claude

“…The French Society of Pediatric Neurology and the FILNEMUS network created a working group on corticosteroid therapy in children with Duchenne muscular…”
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An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in Tyrosinemia type 1 by De Lucia, Silvana, Pichard, Samia, Ilea, Adina, Greneche, Marie-Odile, François, Laurent, Delanoë, Catherine, Schiff, Manuel, Auvin, Stéphane, MD, PhD

“…Abstract The ketogenic diet is an evidence-based treatment for resistant epilepsy including Lennox-Gastaut syndrome. This diet is based on low…”
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Monochorionic monoamniotic twin pregnancy: Inpatient or outpatient management? Our experience by Vasciaveo, Lorenzo, Zanzarelli, Erika, De Lucia, Graziana Silvana, De Feo, Vincenzo, Mastricci, Anna Lucia, Nappi, Luigi

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