Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course

por Croci, Carolina, Traverso, Monica, Baratto, Serena, Iacomino, Michele, Pedemonte, Marina, Caroli, Francesco, Scala, Marcello, Bruno, Claudio, Fiorillo, Chiara
Publicado 2022

Novel TRIM32 mutation in sarcotubular myopathy

por PANICUCCI, CHIARA, TRAVERSO, MONICA, BARATTO, SERENA, ROMEO, CHIARA, IACOMINO, MICHELE, GEMELLI, CHIARA, TAGLIAFICO, ALBERTO, BRODA, PAOLO, ZARA, FEDERICO, BRUNO, CLAUDIO, MINETTI, CARLO, FIORILLO, CHIARA
Publicado 2019

Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review

por Dainelli, Alice, Iacomino, Michele, Rossato, Sara, Bugin, Samuela, Traverso, Monica, Severino, Mariasavina, Gustincich, Stefano, Capra, Valeria, Di Duca, Marco, Zara, Federico, Scala, Marcello, Striano, Pasquale
Publicado 2023

Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?

por Chelleri, Cristina, Scala, Marcello, De Marco, Patrizia, Traverso, Monica, Ognibene, Marzia, Bruno, Irene, Piccolo, Gianluca, Striano, Pasquale, Severino, Mariasavina, Zara, Federico, Diana, Maria Cristina, Pavanello, Marco
Publicado 2023

Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons

por Baldassari, Simona, Cervetto, Chiara, Amato, Sarah, Fruscione, Floriana, Balagura, Ganna, Pelassa, Simone, Musante, Ilaria, Iacomino, Michele, Traverso, Monica, Corradi, Anna, Scudieri, Paolo, Maura, Guido, Marcoli, Manuela, Zara, Federico
Publicado 2022

Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis

por Miano, Maurizio, Guardo, Daniela, Grossi, Alice, Palmisani, Elena, Fioredda, Francesca, Terranova, Paola, Cappelli, Enrico, Lupia, Michela, Traverso, Monica, Dell’Orso, Gianluca, Corsolini, Fabio, Beccaria, Andrea, Lanciotti, Marina, Ceccherini, Isabella, Dufour, Carlo
Publicado 2022

Whole exome sequencing identifies novel predisposing genes in neural tube defects

por Lemay, Philippe, De Marco, Patrizia, Traverso, Monica, Merello, Elisa, Dionne‐Laporte, Alexandre, Spiegelman, Dan, Henrion, Édouard, Diallo, Ousmane, Audibert, François, Michaud, Jacques L., Cama, Armando, Rouleau, Guy A., Kibar, Zoha, Capra, Valeria
Publicado 2018

The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome

por Veneruso, Marco, Fiorillo, Chiara, Broda, Paolo, Baratto, Serena, Traverso, Monica, Donati, Alice, Savasta, Salvatore, Falsaperla, Raffaele, Mancardi, Maria Margherita, Pedemonte, Marina, Panicucci, Chiara, Piatelli, Gianluca, Pacetti, Mattia, Moscatelli, Andrea, Ramenghi, Luca Antonio, Nobili, Lino, Minetti, Carlo, Bruno, Claudio
Publicado 2021

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

por Ognibene, Marzia, Scala, Marcello, Iacomino, Michele, Schiavetti, Irene, Madia, Francesca, Traverso, Monica, Guerrisi, Sara, Di Duca, Marco, Caroli, Francesco, Baldassari, Simona, Tappino, Barbara, Romano, Ferruccio, Uva, Paolo, Vozzi, Diego, Chelleri, Cristina, Piatelli, Gianluca, Diana, Maria Cristina, Zara, Federico, Capra, Valeria, Pavanello, Marco, De Marco, Patrizia
Publicado 2023

An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia

por Gemelli, Chiara, Traverso, Monica, Trevisan, Lucia, Fabbri, Sabrina, Scarsi, Elena, Carlini, Barbara, Prada, Valeria, Mongini, Tiziana, Ruggiero, Lucia, Patrone, Serena, Gallone, Salvatore, Iodice, Rosa, Pisciotta, Livia, Zara, Federico, Origone, Paola, Rota, Eugenia, Minetti, Carlo, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Fiorillo, Chiara, Grandis, Marina
Publicado 2021

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

por Scala, Marcello, Schiavetti, Irene, Madia, Francesca, Chelleri, Cristina, Piccolo, Gianluca, Accogli, Andrea, Riva, Antonella, Salpietro, Vincenzo, Bocciardi, Renata, Morcaldi, Guido, Di Duca, Marco, Caroli, Francesco, Verrico, Antonio, Milanaccio, Claudia, Viglizzo, Gianmaria, Traverso, Monica, Baldassari, Simona, Scudieri, Paolo, Iacomino, Michele, Piatelli, Gianluca, Minetti, Carlo, Striano, Pasquale, Garrè, Maria Luisa, De Marco, Patrizia, Diana, Maria Cristina, Capra, Valeria, Pavanello, Marco, Zara, Federico
Publicado 2021

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

por Fiorillo, Chiara, Capodivento, Giovanna, Geroldi, Alessandro, Tozza, Stefano, Moroni, Isabella, Mohassel, Payam, Cataldi, Matteo, Campana, Chiara, Morando, Simone, Panicucci, Chiara, Pedemonte, Marina, Brolatti, Noemi, Siliquini, Sabrina, Traverso, Monica, Baratto, Serena, Debellis, Doriana, Magri, Stefania, Prada, Valeria, Bellone, Emilia, Salpietro, Vincenzo, Donkervoort, Sandra, Gable, Kenneth, Gupta, Sita D., Dunn, Teresa M., Bönnemann, Carsten G., Taroni, Franco, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Nobbio, Lucilla, Nolano, Maria
Publicado 2022

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

por Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogli, Andrea, Zara, Federico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo P, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Ward Melver, Catherine, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew N, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Walsh Vockley, Catherine, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, Baple, Emma L
Publicado 2021

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

por Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio, Ferlini, Alessandra
Publicado 2020