Treatment of haemorrhoidal disease with micronized purified flavonoid fraction and sucralfate ointment

por Amaturo, Antonino, Meucci, Massimo, Mari, Francesco Saverio
Publicado 2020

Psychoactive substances belonging to the amphetamine class potently activate brain carbonic anhydrase isoforms VA, VB, VII, and XII

por Angeli, Andrea, Vaiano, Fabio, Mari, Francesco, Bertol, Elisabetta, Supuran, Claudiu T.
Publicado 2017

Sirolimus in Infants with Multiple Cardiac Rhabdomyomas Associated with Tuberous Sclerosis Complex

por Lucchesi, Maurizio, Chiappa, Enrico, Giordano, Flavio, Mari, Francesco, Genitori, Lorenzo, Sardi, Iacopo
Publicado 2018

Advances in new psychoactive substances identification: the U.R.I.To.N. Consortium

por Bertol, Elisabetta, Vaiano, Fabio, Mari, Francesco, Di Milia, Maria Grazia, Bua, Silvia, Supuran, Claudiu T., Carta, Fabrizio
Publicado 2017

Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

por Peluso, Francesca, Palazzo, Viviana, Indolfi, Giuseppe, Mari, Francesco, Pasqualetti, Roberta, Procopio, Elena, Nesti, Claudia, Guerrini, Renzo, Santorelli, Filippo, Giglio, Sabrina
Publicado 2021

Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction

por Berti, Beatrice, Longo, Giovanna, Mari, Francesco, Doccini, Stefano, Piccolo, Ilaria, Donati, Maria Alice, Moro, Francesca, Guerrini, Renzo, Santorelli, Filippo M., Petruzzella, Vittoria
Publicado 2021

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

por Marini, Carla, Romoli, Michele, Parrini, Elena, Costa, Cinzia, Mei, Davide, Mari, Francesco, Parmeggiani, Lucio, Procopio, Elena, Metitieri, Tiziana, Cellini, Elena, Virdò, Simona, De Vita, Dalila, Gentile, Mattia, Prontera, Paolo, Calabresi, Paolo, Guerrini, Renzo
Publicado 2017

Patterns and predictors of language representation and the influence of epilepsy surgery on language reorganization in children and young adults with focal lesional epilepsy

por Barba, Carmen, Montanaro, Domenico, Grisotto, Laura, Frijia, Francesca, Pellacani, Simona, Cavalli, Anna, Rizzi, Susanna, Lenge, Matteo, Aghakhanyan, Gayane, Sibilia, Valentina, Giordano, Flavio, Pisano, Tiziana, Mari, Francesco, Melani, Federico, Cherubini, Andrea, Buccoliero, Annamaria, Caligiuri, Maria Eugenia, Guerrini, Renzo
Publicado 2020

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study

por Tolomeo, Deborah, Orsucci, Daniele, Nesti, Claudia, Baldacci, Jacopo, Battini, Roberta, Bruno, Claudio, Bruno, Giorgia, Cassandrini, Denise, Doccini, Stefano, Donati, M. Alice, Ferrari, Annarita, Fiori, Simona, Fiorillo, Chiara, Guerrini, Renzo, Mari, Francesco, Montomoli, Martino, Pochiero, Francesca, Procopio, Elena, Ruggiero, Lucia, Sampaolo, Simone, Sicca, Federico, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo M.
Publicado 2021

Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired

por Taiana, Michela, Govoni, Alessandra, Salani, Sabrina, Kleinschmidt, Nicole, Galli, Noemi, Saladini, Matteo, Ghezzi, Stefano Bruno, Melzi, Valentina, Bersani, Margherita, Del Bo, Roberto, Muehlemann, Oliver, Bertini, Enrico, Sansone, Valeria, Albamonte, Emilio, Messina, Sonia, Mari, Francesco, Cesaroni, Elisabetta, Porfiri, Liliana, Tiziano, Francesco Danilo, Vita, Gian Luca, Sframeli, Maria, Bonanno, Carmen, Bresolin, Nereo, Comi, Giacomo, Corti, Stefania, Nizzardo, Monica
Publicado 2022

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing

por Marinella, Gemma, Astrea, Guja, Buchignani, Bianca, Cassandrini, Denise, Doccini, Stefano, Filosto, Massimiliano, Galatolo, Daniele, Gallone, Salvatore, Giannini, Fabio, Lopergolo, Diego, Maioli, Maria Antonietta, Magri, Francesca, Malandrini, Alessandro, Mandich, Paola, Mari, Francesco, Massa, Roberto, Mata, Sabrina, Melani, Federico, Moggio, Maurizio, Mongini, Tiziana E., Pasquariello, Rosa, Pegoraro, Elena, Ricci, Federica, Ricci, Giulia, Rodolico, Carmelo, Rubegni, Anna, Siciliano, Gabriele, Sperti, Martina, Ticci, Chiara, Tonin, Paola, Santorelli, Filippo M., Battini, Roberta
Publicado 2022

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

por D'Amore, Angelica, Tessa, Alessandra, Casali, Carlo, Dotti, Maria Teresa, Filla, Alessandro, Silvestri, Gabriella, Antenora, Antonella, Astrea, Guja, Barghigiani, Melissa, Battini, Roberta, Battisti, Carla, Bruno, Irene, Cereda, Cristina, Dato, Clemente, Di Iorio, Giuseppe, Donadio, Vincenzo, Felicori, Monica, Fini, Nicola, Fiorillo, Chiara, Gallone, Salvatore, Gemignani, Federica, Gigli, Gian Luigi, Graziano, Claudio, Guerrini, Renzo, Gurrieri, Fiorella, Kariminejad, Ariana, Lieto, Maria, Marques LourenḈo, Charles, Malandrini, Alessandro, Mandich, Paola, Marcotulli, Christian, Mari, Francesco, Massacesi, Luca, Melone, Maria A. B., Mignarri, Andrea, Milone, Roberta, Musumeci, Olimpia, Pegoraro, Elena, Perna, Alessia, Petrucci, Antonio, Pini, Antonella, Pochiero, Francesca, Pons, Maria Roser, Ricca, Ivana, Rossi, Salvatore, Seri, Marco, Stanzial, Franco, Tinelli, Francesca, Toscano, Antonio, Valente, Mariarosaria, Federico, Antonio, Rubegni, Anna, Santorelli, Filippo Maria
Publicado 2018

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

por Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M. Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A. F.
Publicado 2023