Children with rare diseases: do they really have an increased risk of developing epilepsy?

od Pantaleoni, Chiara, Alfei, Enrico, D'Arrigo, Stefano
Wydane w Ital J Pediatr (2015)

So far so close: an insight into smart working and telehealth reorganization of a Language and Learning Disorders Service in Milan during COVID-19 pandemic

od Sarti, Daniela, De Salvatore, Marinella, Gazzola, Stefania, Pantaleoni, Chiara, Granocchio, Elisa
Wydane w Neurol Sci (2020)

Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (...

od Sciacca, Francesca L., Ciaccio, Claudia, Fontana, Federica, Strano, Camilla, Gilardoni, Francesca, Pantaleoni, Chiara, D’Arrigo, Stefano
Wydane w Front Genet (2020)

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

od Leonardi, Emanuela, Bellini, Mariagrazia, Aspromonte, Maria C., Polli, Roberta, Mercante, Anna, Ciaccio, Claudia, Granocchio, Elisa, Bettella, Elisa, Donati, Ilaria, Cainelli, Elisa, Boni, Stefania, Sartori, Stefano, Pantaleoni, Chiara, Boniver, Clementina, Murgia, Alessandra
Wydane w Genes (Basel) (2020)

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype–Phenotype Correlations in a Large Independent Cohort

od Melloni, Giulia, Eoli, Marica, Cesaretti, Claudia, Bianchessi, Donatella, Ibba, Maria Cristina, Esposito, Silvia, Scuvera, Giulietta, Morcaldi, Guido, Micheli, Roberto, Piozzi, Elena, Avignone, Sabrina, Chiapparini, Luisa, Pantaleoni, Chiara, Natacci, Federica, Finocchiaro, Gaetano, Saletti, Veronica
Wydane w Cancers (Basel) (2019)

Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients

od Bonanno, Silvia, Marcuzzo, Stefania, Malacarne, Claudia, Giagnorio, Eleonora, Masson, Riccardo, Zanin, Riccardo, Arnoldi, Maria Teresa, Andreetta, Francesca, Simoncini, Ornella, Venerando, Anna, Gellera, Cinzia, Pantaleoni, Chiara, Mantegazza, Renato, Bernasconi, Pia, Baranello, Giovanni, Maggi, Lorenzo
Wydane w Biomedicines (2020)

Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay

od Jiao, Xianru, Morleo, Manuela, Nigro, Vincenzo, Torella, Annalaura, D’Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Gong, Pan, Grand, Katheryn, Sanchez-Lara, Pedro A., Krier, Joel, Fieg, Elizabeth, Stergachis, Andrew, Wang, Xiaodong, Yang, Zhixian
Wydane w Front Pharmacol (2020)

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

od Di Costanzo, Stefania, Balasubramanian, Anuradha, Pond, Heather L., Rozkalne, Anete, Pantaleoni, Chiara, Saredi, Simona, Gupta, Vandana A., Sunu, Christine M., Yu, Timothy W., Kang, Peter B., Salih, Mustafa A., Mora, Marina, Gussoni, Emanuela, Walsh, Christopher A., Manzini, M. Chiara
Wydane 2014

The Syndrome of Perisylvian Polymicrogyria with Congenital Arthrogryposis

od Poduri, Annapurna, Chitsazzadeh, Vida, D’Arrigo, Stefano, Fedrizzi, Ermellina, Pantaleoni, Chiara, Riva, Daria, Busse, Claudia, Küster, Helmut, Duplessis, Adre, Gaitanis, John, Sahin, Mustafa, Garganta, Cheryl, Topcu, Meral, Dies, Kira A., Barry, Brenda J., Partlow, Jennifer, Barkovich, A. James, Walsh, Christopher A., Chang, Bernard S.
Wydane 2009

Correction: Sciacca, F. L., et al. Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome. Int. J. Mol. Sci. 2018, 19, 3675

od Sciacca, Francesca Luisa, Rizzo, Ambra, Bedini, Gloria, Capone, Fioravante, Di Lazzaro, Vincenzo, Nava, Sara, Acerbi, Francesco, Sebastiano, Davide Rossi, Binelli, Simona, Faragò, Giuseppe, Gioppo, Andrea, Grisoli, Marina, Bruzzone, Maria Grazia, Ferroli, Paolo, Pantaleoni, Chiara, Caputi, Luigi, Gomez, Jesus Vela, Parati, Eugenio Agostino, Bersano, Anna
Wydane w Int J Mol Sci (2019)

MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement

od Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Mazzotta, Annalisa, Bertini, Enrico, Boltshauser, Eugen, D’Arrigo, Stefano, Emma, Francesco, Fazzi, Elisa, Gallizzi, Romina, Gentile, Mattia, Loncarevic, Damir, Mejaski-Bosnjak, Vlatka, Pantaleoni, Chiara, Rigoli, Luciana, Salpietro, Carmelo D., Signorini, Sabrina, Stringini, Gilda Rita, Verloes, Alain, Zabloka, Dominika, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria
Wydane 2009

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

od Brunetti-Pierri, Nicola, Paciorkowski, Alex R, Ciccone, Roberto, Mina, Erika Della, Bonaglia, Maria Clara, Borgatti, Renato, Schaaf, Christian P, Sutton, V Reid, Xia, Zhilian, Jelluma, Naftha, Ruivenkamp, Claudia, Bertrand, Mary, de Ravel, Thomy J L, Jayakar, Parul, Belli, Serena, Rocchetti, Katia, Pantaleoni, Chiara, D'Arrigo, Stefano, Hughes, Jeff, Cheung, Sau Wai, Zuffardi, Orsetta, Stankiewicz, Pawel
Wydane 2011

Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy

od Pareyson, Davide, Pantaleoni, Chiara, Eleopra, Roberto, De Filippis, Giuseppe, Moroni, Isabella, Freri, Elena, Zibordi, Federica, Bulgheroni, Sara, Pagliano, Emanuela, Sarti, Daniela, Silvani, Antonio, Grazzi, Licia, Tiraboschi, Pietro, Didato, Giuseppe, Anghileri, Elena, Bersano, Anna, Valentini, Laura, Piacentini, Sylvie, Muscio, Cristina, Leonardi, Matilde, Mariotti, Caterina, Eoli, Marica, Nuzzo, Sara, Tagliavini, Fabrizio, Confalonieri, Paolo, De Giorgi, Francesca
Wydane w Neurol Sci (2021)

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

od Kasher, Paul R., Schertz, Katherine E., Thomas, Megan, Jackson, Adam, Annunziata, Silvia, Ballesta-Martinez, María J., Campeau, Philippe M., Clayton, Peter E., Eaton, Jennifer L., Granata, Tiziana, Guillén-Navarro, Encarna, Hernando, Cristina, Laverriere, Caroline E., Liedén, Agne, Villa-Marcos, Olaya, McEntagart, Meriel, Nordgren, Ann, Pantaleoni, Chiara, Pebrel-Richard, Céline, Sarret, Catherine, Sciacca, Francesca L., Wright, Ronnie, Kerr, Bronwyn, Glasgow, Eric, Banka, Siddharth
Wydane w Am J Hum Genet (2016)

Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells

od Tinelli, Francesca, Nava, Sara, Arioli, Francesco, Bedini, Gloria, Scelzo, Emma, Lisini, Daniela, Faragò, Giuseppe, Gioppo, Andrea, Ciceri, Elisa F., Acerbi, Francesco, Ferroli, Paolo, Vetrano, Ignazio G., Esposito, Silvia, Saletti, Veronica, Pantaleoni, Chiara, Zibordi, Federica, Nardocci, Nardo, Zedde, Maria Luisa, Pezzini, Alessandro, Di Lazzaro, Vincenzo, Capone, Fioravante, Dell’Acqua, Maria Luisa, Vajkoczy, Peter, Tournier-Lasserve, Elisabeth, Parati, Eugenio A., Bersano, Anna, Gatti, Laura
Wydane w Int J Mol Sci (2020)

Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies

od Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Ardissino, Gian Luigi, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Johannes.Penzien, Grammatico, Paola, Dallapiccola, Bruno, Gleeson, Joseph G., Attie-Bitach, Tania, Valente, Enza Maria
Wydane 2010

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

od Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham Jr., John M, Hevner, Robert, Dobyns, William B, O’Driscoll, Mark, Mirzaa, Ghayda M
Wydane w Brain (2017)

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

od Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
Wydane 2011

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

od Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R
Wydane w Genet Med (2017)

Mowat-Wilson syndrome: growth charts

od Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S., Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, Garavelli, Livia
Wydane w Orphanet J Rare Dis (2020)