Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes von Giovenino, Chiara, Trajkova, Slavica, Pavinato, Lisa, Cardaropoli, Simona, Pullano, Verdiana, Ferrero, Enza, Sukarova-Angelovska, Elena, Carestiato, Silvia, Salmin, Paola, Rinninella, Antonina, Battaglia, Anthony, Bertoli, Luca, Fadda, Antonio, Palermo, Flavia, Carli, Diana, Mussa, Alessandro, Dimartino, Paola, Bruselles, Alessandro, Froukh, Tawfiq, Mandrile, Giorgia, Pasini, Barbara, De Rubeis, Silvia, Buxbaum, Joseph D, Pippucci, Tommaso, Tartaglia, Marco, Rossato, Marzia, Delledonne, Massimo, Ferrero, Giovanni Battista, Brusco, Alfredo

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Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis von Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, Brusco, Alfredo

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The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome von Tucci, Arianna, Ronzoni, Luisa, Arduino, Carlo, Salmin, Paola, Esposito, Susanna, Milani, Donatella

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Spinocerebellar Ataxia Tethering PCR von Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, Brusco, Alfredo

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Fcγ receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis von De Rose, Virginia, Arduino, Carlo, Cappello, Nazario, Piana, Rita, Salmin, Paola, Bardessono, Marco, Goia, Manuela, Padoan, Rita, Bignamini, Elisabetta, Costantini, Diana, Pizzamiglio, Giovanna, Bennato, Veronica, Colombo, Carla, Giunta, AnnaMaria, Piazza, Alberto

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Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis von De Rose, Virginia, Arduino, Carlo, Cappello, Nazario, Piana, Rita, Salmin, Paola, Bardessono, Marco, Goia, Manuela, Padoan, Rita, Bignamini, Elisabetta, Costantini, Diana, Pizzamiglio, Giovanna, Bennato, Veronica, Colombo, Carla, Giunta, Annamaria, Piazza, Alberto

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Fcy receptor iia genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis von DE ROSE, Virginia, ARDUINO, Carlo, PIZZAMIGLIO, Giovanna, BENNATO, Veronica, COLOMBO, Carla, GIUNTA, Annamaria, PIAZZA, Alberto, CAPPELLO, Nazario, PIANA, Rita, SALMIN, Paola, BARDESSONO, Marco, GOIA, Manuela, PADOAN, Rita, BIGNAMINI, Elisabetta, COSTANTINI, Diana

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Fc[gamma] receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis von De Rose, Virginia, Arduino, Carlo, Cappello, Nazario, Piana, Rita, Salmin, Paola, Bardessono, Marco, Goia, Manuela, Padoan, Rita, Bignamini, Elisabetta, Costantini, Diana, Pizzamiglio, Giovanna, Bennato, Veronica, Colombo, Carla, Giunta, AnnaMaria, Piazza, Alberto

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Nusinersen in type 1 spinal muscular atrophy: Twelve‐month real‐world data von Pane, Marika, Coratti, Giorgia, Sansone, Valeria A., Messina, Sonia, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Brigati, Giorgia, Tacchetti, Paola, Salmin, Francesca, de Sanctis, Roberto, Lucibello, Simona, Piastra, Marco, Genovese, Orazio, Bertini, Enrico, Vita, Giuseppe, Tiziano, Francesco Danilo, Mercuri, Eugenio

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Type I SMA “new natural history”: long‐term data in nusinersen‐treated patients von Pane, Marika, Coratti, Giorgia, Sansone, Valeria A., Messina, Sonia, Catteruccia, Michela, Bruno, Claudio, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D’Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Palermo, Concetta, Leone, Daniela, Brigati, Giorgia, Tacchetti, Paola, Salmin, Francesca, De Sanctis, Roberto, Lucibello, Simona, Pera, Maria Carmela, Piastra, Marco, Genovese, Orazio, Bertini, Enrico, Vita, Gianluca, Tiziano, Francesco Danilo, Mercuri, Eugenio

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Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen von Sansone, V. A., Coratti, G., Pera, M. C., Pane, M., Messina, S., Salmin, F., Albamonte, E., De Sanctis, R., Sframeli, M., Di Bella, V., Morando, S., d’Amico, A., Frongia, A. L., Antonaci, L., Pirola, A., Pedemonte, M., Bertini, E., Bruno, C., Mercuri, E., Di Bari, Alessandra, Signorino, Amelia, Longo, Antonella, Tacchetti, Paola, Brolatti, Noemi, Rossi, Diletta, Bravetti, Chiara, Lucibello, Simona, Fanelli, Lavinia, Forcina, Nicola, Norcia, Giulia, Carnicella, Sara, Patanella, Katia Agata, Leone, Daniela, Palermo, Concetta, Berti, Beatrice, Catania, Felice, Colombo, Andrea, Bozzardi, Aurora, Ferrantini, Gloria, Vita, Gianluca

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Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen von Coratti, Giorgia, Pane, Marika, Lucibello, Simona, Pera, Maria Carmela, Pasternak, Amy, Montes, Jacqueline, Sansone, Valeria A, Duong, Tina, Dunaway Young, Sally, Messina, Sonia, D'Amico, Adele, Civitello, Matthew, Glanzman, Allan M, Bruno, Claudio, Salmin, Francesca, Tacchetti, Paola, Carnicella, Sara, Sframeli, Maria, Antonaci, Laura, Frongia, Anna Lia, De Vivo, Darryl C., Darras, Basil T., Day, John, Bertini, Enrico, Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio

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An observational study of functional abilities in infants, children, and adults with type 1 SMA von Pane, Marika, Palermo, Concetta, Messina, Sonia, Sansone, Valeria A, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, DʼAmico, Adele, Brigati, Giorgia, de Sanctis, Roberto, Coratti, Giorgia, Lucibello, Simona, Bertini, Enrico, Vita, Giuseppe, Danilo Tiziano, Francesco, Mercuri, Eugenio

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Childhood Epilepsy with Centrotemporal Spikes: Clinical and Neuropsychological Outcomes 5 Years after Remission von Varesio, Costanza, Zanaboni, Martina Paola, Salmin, Elisa Carlotta, Totaro, Chiara, Totaro, Martina, Ballante, Elena, Pasca, Ludovica, Veggiotti, Pierangelo, De Giorgis, Valentina

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A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “singl... von Sansone, V.A., Pane, M., Messina, S., Bruno, C., D'Amico, A., Albamonte, E., Catteruccia, M., Sframeli, M., Pedemonte, M., Vita, G., Bertini, E., Mercuri, E., Leone, Daniela, de Sanctis, Roberto, Forcina, Nicola, Piastra, Marco, Genovese, Orazio, Pedicelli, Alessandro, Versaci, Antonio, Rulli, Imma, Gitto, Eloisa, Faraone, Cristina, La Foresta, Stefania, Macrì, Maria, Colia, Giulia, Bonetti, Anna Maria, Carlesi, Adelina, Cutrera, Renato, Chiarini, Maria Beatrice, Ferretti, Marta, Garaventa, Alberto, Montobbio, Giovanni, Gandolfo, Carlo, Iurilli, Valentina, Tacchetti, Paola, Bobeica, Emilia, D'Agostino, Alessia, Pirola, Alice, Lupone, Sara, De Mattia, Elisa, Falcier, Elisa, Rao, Fabrizio, Casiraghi, Jacopo, Salmin, Francesca, Grandi, Cristina, Fedeli, Fausto, Mancini, Luca, Stoia, Paolo, Heinen, Maurizio, Cozzi, Valeria, Travaglia, Beatrice, Mizzotti, Emma

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