Isolated compression of the ulnar motor branch due to carpal joint ganglia: clinical series, surgical technique and postoperative outcomes

por Saracco, Michela, Panzera, Rocco Maria, Merico, Barbara, Madia, Francesca, Pagliei, Antonio, Rocchi, Lorenzo
Publicado 2020

Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting

por Saia, Federica, Prato, Adriana, Saccuzzo, Lucia, Madia, Francesca, Barone, Rita, Fichera, Marco, Rizzo, Renata
Publicado 2023

Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience

por Luigetti, Marco, Romano, Angela, Di Paolantonio, Andrea, Bisogni, Giulia, Rossi, Salvatore, Conte, Amelia, Madia, Francesca, Sabatelli, Mario
Publicado 2020

Impressive efficacy of the ketogenic diet in a KCNQ2 encephalopathy infant: a case report and exhaustive literature review

por Falsaperla, Raffaele, Marino, Simona Domenica, Salomone, Giulia, Madia, Francesca, Marino, Silvia, Tardino, Lucia Giovanna, Scalia, Bruna, Ruggieri, Martino
Publicado 2023

Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome

por Scala, Marcello, De Grandis, Elisa, Nobile, Giulia, Iacomino, Michele, Madia, Francesca, Capra, Valeria, Nobili, Lino, Zara, Federico, Striano, Pasquale
Publicado 2022

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

por Scala, Marcello, Anijs, Midas, Battini, Roberta, Madia, Francesca, Capra, Valeria, Scudieri, Paolo, Verrotti, Alberto, Zara, Federico, Minetti, Carlo, Vernes, Sonja C., Striano, Pasquale
Publicado 2021

Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-C...

por Garibotto, Federica, Madia, Francesca, Milanaccio, Claudia, Verrico, Antonio, Piccardo, Arnoldo, Tortora, Domenico, Piatelli, Gianluca, Diana, Maria Cristina, Capra, Valeria, Garrè, Maria Luisa, Rossi, Andrea, Morana, Giovanni
Publicado 2020

Diagnostic Approach to Macrocephaly in Children

por Accogli, Andrea, Geraldo, Ana Filipa, Piccolo, Gianluca, Riva, Antonella, Scala, Marcello, Balagura, Ganna, Salpietro, Vincenzo, Madia, Francesca, Maghnie, Mohamad, Zara, Federico, Striano, Pasquale, Tortora, Domenico, Severino, Mariasavina, Capra, Valeria
Publicado 2022

Potential Role of miRNAs in the Acquisition of Chemoresistance in Neuroblastoma

por Marengo, Barbara, Pulliero, Alessandra, Corrias, Maria Valeria, Leardi, Riccardo, Farinini, Emanuele, Fronza, Gilberto, Menichini, Paola, Monti, Paola, Monteleone, Lorenzo, Valenti, Giulia Elda, Speciale, Andrea, Perri, Patrizia, Madia, Francesca, Izzotti, Alberto, Domenicotti, Cinzia
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

A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome

por Riva, Antonella, Nobile, Giulia, Giacomini, Thea, Ognibene, Marzia, Scala, Marcello, Balagura, Ganna, Madia, Francesca, Accogli, Andrea, Romano, Ferruccio, Tortora, Domenico, Severino, Mariasavina, Scudieri, Paolo, Baldassari, Simona, Musante, Ilaria, Uva, Paolo, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Capra, Valeria, Nobili, Lino, Striano, Pasquale, Mancardi, Maria Margherita, Zara, Federico, Iacomino, Michele
Publicado 2022

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

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

por Scala, Marcello, Drouot, Nathalie, MacLennan, Suzanna C., Wessels, Marja W., Krygier, Magdalena, Pavinato, Lisa, Telegrafi, Aida, de Man, Stella A., van Slegtenhorst, Marjon, Iacomino, Michele, Madia, Francesca, Scudieri, Paolo, Uva, Paolo, Giacomini, Thea, Nobile, Giulia, Mancardi, Maria Margherita, Balagura, Ganna, Galloni, Giovanni Battista, Verrotti, Alberto, Umair, Muhammad, Khan, Amjad, Liebelt, Jan, Schmidts, Miriam, Langer, Thorsten, Brusco, Alfredo, Lipska‐Ziętkiewicz, Beata S., Saris, Jasper J., Charlet‐Berguerand, Nicolas, Zara, Federico, Striano, Pasquale, Piton, Amélie
Publicado 2022

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

por 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
Publicado 2020

Diagnostic implications of genetic copy number variation in epilepsy plus

por Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik‐Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, Dorn, Thomas, Guerrini, Renzo, Hoffman‐Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An‐Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J, Weckhuysen, Sarah, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla
Publicado 2019

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

por D’Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Caliskan, Haluk, Kokotović, Tomislav, Blazekovic, Antonela, Jercic, Kristina Gotovac, Markovic, Silvana, Zigman, Tamara, Goran, Krnjak, Barišić, Nina, Duranovic, Vlasta, Ban, Ana, Borovecki, Fran, Ramadža, Danijela Petković, Barić, Ivo, Fazeli, Walid, Herkenrath, Peter, Marini, Carla, Vittorini, Roberta, Gowda, Vykuntaraju, Bouman, Arjan, Rocca, Clarissa, Alkhawaja, Issam Azmi, Murtaza, Bibi Nazia, Rehman, Malik Mujaddad Ur, Al Alam, Chadi, Nader, Gisele, Mancardi, Maria Margherita, Giacomini, Thea, Srivastava, Siddharth, Alvi, Javeria Raza, Tomoum, Hoda, Matricardi, Sara, Iacomino, Michele, Riva, Antonella, Scala, Marcello, Madia, Francesca, Pistorio, Angela, Salpietro, Vincenzo, Minetti, Carlo, Rivière, Jean-Baptiste, Srour, Myriam, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Vernes, Sonja Catherine, Zara, Federico, Striano, Pasquale, Nagy, Vanja
Publicado 2023

Epilepsy Course and Developmental Trajectories in STXBP1-DEE

por Balagura, Ganna, Xian, Julie, Riva, Antonella, Marchese, Francesca, Ben Zeev, Bruria, Rios, Loreto, Sirsi, Deepa, Accorsi, Patrizia, Amadori, Elisabetta, Astrea, Guja, Baldassari, Simona, Beccaria, Francesca, Boni, Antonella, Budetta, Mauro, Cantalupo, Gaetano, Capovilla, Giuseppe, Cesaroni, Elisabetta, Chiesa, Valentina, Coppola, Antonietta, Dilena, Robertino, Faggioli, Raffaella, Ferrari, Annarita, Fiorini, Elena, Madia, Francesca, Gennaro, Elena, Giacomini, Thea, Giordano, Lucio, Iacomino, Michele, Lattanzi, Simona, Marini, Carla, Mancardi, Maria Margherita, Mastrangelo, Massimo, Messana, Tullio, Minetti, Carlo, Nobili, Lino, Papa, Amanda, Parmeggiani, Antonia, Pisano, Tiziana, Russo, Angelo, Salpietro, Vincenzo, Savasta, Salvatore, Scala, Marcello, Accogli, Andrea, Scelsa, Barbara, Scudieri, Paolo, Spalice, Alberto, Specchio, Nicola, Trivisano, Marina, Tzadok, Michal, Valeriani, Massimiliano, Vari, Maria Stella, Verrotti, Alberto, Vigevano, Federico, Vignoli, Aglaia, Toonen, Ruud, Zara, Federico, Helbig, Ingo, Striano, Pasquale
Publicado 2022