Todd Paralysis in Rolandic Epilepsy

por Striano, Pasquale, Vari, Maria Stella
Publicado 2015

Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus

por Riva, Antonella, Amadori, Elisabetta, Vari, Maria Stella, Spalice, Alberto, Belcastro, Vincenzo, Viri, Maurizio, Capodiferro, Donatella, Romeo, Antonino, Verrotti, Alberto, Striano, Pasquale
Publicado 2022

New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment

por Riva, Antonella, Golda, Alice, Balagura, Ganna, Amadori, Elisabetta, Vari, Maria Stella, Piccolo, Gianluca, Iacomino, Michele, Lattanzi, Simona, Salpietro, Vincenzo, Minetti, Carlo, Striano, Pasquale
Publicado 2021

An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy

por Marchese, Francesca, Vari, Maria Stella, Balagura, Ganna, Riva, Antonella, Salpietro, Vincenzo, Verrotti, Alberto, Citraro, Rita, Lattanzi, Simona, Minetti, Carlo, Russo, Emilio, Striano, Pasquale
Publicado 2022

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

por Accogli, Andrea, Iacomino, Michele, Pinto, Francesca, Orsini, Alessandro, Vari, Maria Stella, Selmi, Raed, Torella, Annalaura, Nigro, Vincenzo, Minetti, Carlo, Severino, Mariasavina, Striano, Pasquale, Capra, Valeria, Zara, Federico
Publicado 2017

Acute Neurological Presentation in Children With SARS-CoV-2 Infection

por Riva, Antonella, Piccolo, Gianluca, Balletti, Federica, Binelli, Maria, Brolatti, Noemi, Verrotti, Alberto, Amadori, Elisabetta, Spalice, Alberto, Giacomini, Thea, Mancardi, Maria Margherita, Iannetti, Paola, Vari, Maria Stella, Piccotti, Emanuela, Striano, Pasquale, Brisca, Giacomo
Publicado 2022

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet

por Cappuccio, Gerarda, Pinelli, Michele, Alagia, Marianna, Donti, Taraka, Day-Salvatore, Debra-Lynn, Veggiotti, Pierangelo, De Giorgis, Valentina, Lunghi, Simona, Vari, Maria Stella, Striano, Pasquale, Brunetti-Pierri, Nicola, Kennedy, Adam D., Elsea, Sarah H.
Publicado 2017

A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy

por Riva, Antonella, Roberti, Roberta, D'Onofrio, Gianluca, Vari, Maria Stella, Amadori, Elisabetta, De Giorgis, Valentina, Cerminara, Caterina, Specchio, Nicola, Pietrafusa, Nicola, Tombini, Mario, Assenza, Giovanni, Cappanera, Silvia, Marini, Carla, Rasmini, Paolo, Veggiotti, Pierangelo, Zara, Federico, Russo, Emilio, Striano, Pasquale
Publicado 2023

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

por Amadori, Elisabetta, Scala, Marcello, Cereda, Giulia Sofia, Vari, Maria Stella, Marchese, Francesca, Di Pisa, Veronica, Mancardi, Maria Margherita, Giacomini, Thea, Siri, Laura, Vercellino, Fabiana, Serino, Domenico, Orsini, Alessandro, Bonuccelli, Alice, Bagnasco, Irene, Papa, Amanda, Minetti, Carlo, Cordelli, Duccio Maria, Striano, Pasquale
Publicado 2020

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

por Orsini, Alessandro, Santangelo, Andrea, Bravin, Francesca, Bonuccelli, Alice, Peroni, Diego, Battini, Roberta, Foiadelli, Thomas, Bertini, Veronica, Valetto, Angelo, Iacomino, Michele, Nigro, Vincenzo, Torella, Anna Laura, Scala, Marcello, Capra, Valeria, Vari, Maria Stella, Fetta, Anna, Di Pisa, Veronica, Montanari, Francesca, Epifanio, Roberta, Bonanni, Paolo, Giorda, Roberto, Operto, Francesca, Pastorino, Grazia, Sarigecili, Esra, Sardaroglu, Esra, Okuyaz, Cetin, Bozdogan, Sevgan, Musante, Luciana, Faletra, Flavio, Zanus, Caterina, Ferretti, Alessandro, Vigevano, Federico, Striano, Pasquale, Cordelli, Duccio Maria
Publicado 2022

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

por Borgia, Paola, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D’Onofrio, Gianluca, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, Antonella, Chimenz, Roberto, Mangano, Giuseppe D., Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K., Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, Salpietro, Vincenzo
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

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

por Zagaglia, Sara, Selch, Christina, Nisevic, Jelena Radic, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S., Vezyroglou, Katharina, Varadkar, Sophia M., Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S., Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L., Desai, Sonal, Smith-Hicks, Constance L., Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M., Striano, Pasquale, Thomas, Rhys H., Micallef, Caroline, Thom, Maria, Werring, David J., Kluger, Gerhard Josef, Cross, J. Helen, Guerrini, Renzo, Balestrini, Simona, Sisodiya, Sanjay M.
Publicado 2018

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