Innovation for rare diseases and bioethical concerns: A thin thread between medical progress and suffering

por Tommasini, Alberto, Magnolato, Andrea, Bruno, Irene
Publicado 2018

Selumetinib side effects in children treated for plexiform neurofibromas: first case reports of peripheral edema and hair color change

por Baldo, Francesco, Magnolato, Andrea, Barbi, Egidio, Bruno, Irene
Publicado 2021

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature

por Wiel, Luisa Cortellazzo, Bruno, Irene, Barbi, Egidio, Sirchia, Fabio
Publicado 2022

Legius syndrome: case report and review of literature

por Benelli, Elisa, Bruno, Irene, Belcaro, Chiara, Ventura, Alessandro, Berti, Irene
Publicado 2015

Intranasal dexmedetomidine and intravenous ketamine for procedural sedation in a child with alpha-mannosidosis: a magic bullet?

por Trevisan, Matteo, Romano, Sara, Barbi, Egidio, Bruno, Irene, Murru, Flora Maria, Cozzi, Giorgio
Publicado 2019

Measuring Knowledge of Healthcare Providers on Pediatric Palliative Care with an Online Questionnaire Based on the National Core Curriculum in Italy

por Zanello, Elisa, Vecchi, Roberta, Zamagni, Giulia, Biagi, Maria Celeste, Bruno, Irene, Cragnolin, Elisa, Danielli, Elisabetta, Paoletti, Silvia, Rabusin, Marco, Ronfani, Luca, Pessa Valente, Emanuelle
Publicado 2023

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis

por Bottega, Roberta, Cappellani, Stefania, Fabretto, Antonella, Spinelli, Alessandro Mauro, Severini, Giovanni Maria, Aloisio, Michelangelo, Faleschini, Michela, Athanasakis, Emmanouil, Bruno, Irene, Faletra, Flavio, Pecile, Vanna
Publicado 2019

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

Irisin Serum Levels in Metabolic Syndrome Patients Treated with Three Different Diets: A Post-Hoc Analysis from a Randomized Controlled Clinical Trial

por Osella, Alberto R., Colaianni, Graziana, Correale, Mario, Pesole, Pasqua L., Bruno, Irene, Buongiorno, Claudia, Deflorio, Valentina, Leone, Carla M., Colucci, Silvia Concetta, Grano, Maria, Giannelli, Gianluigi
Publicado 2018

Physical Activity and Low Glycemic Index Mediterranean Diet: Main and Modification Effects on NAFLD Score. Results from a Randomized Clinical Trial

por Franco, Isabella, Bianco, Antonella, Mirizzi, Antonella, Campanella, Angelo, Bonfiglio, Caterina, Sorino, Paolo, Notarnicola, Maria, Tutino, Valeria, Cozzolongo, Raffaele, Giannuzzi, Vito, Aballay, Laura R., Buongiorno, Claudia, Bruno, Irene, Osella, Alberto R.
Publicado 2020

Effects of Some Food Components on Non-Alcoholic Fatty Liver Disease Severity: Results from a Cross-Sectional Study

por Mirizzi, Antonella, Franco, Isabella, Leone, Carla Maria, Bonfiglio, Caterina, Cozzolongo, Raffaele, Notarnicola, Maria, Giannuzzi, Vito, Tutino, Valeria, De Nunzio, Valentina, Bruno, Irene, Buongiorno, Claudia, Campanella, Angelo, Deflorio, Valentina, Pascale, Annamaria, Procino, Filippo, Sorino, Paolo, Osella, Alberto Rubén
Publicado 2019

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

por Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'amico, Adele, Sansone, Valeria, Bruno, Claudio, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, Mercuri, Eugenio
Publicado 2023

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

Natural history of KBG syndrome in a large European cohort

por Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Atallah, Isis, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria
Publicado 2022