Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing

por Di Resta, Chiara, Pipitone, Giovanni Battista, Carrera, Paola, Ferrari, Maurizio
Publicado 2020

Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay–Barrow/Foar Syndrome)

por Mingarelli, Alessia, Pipitone, Giovanni Battista, Torini, Giacomo, Patricelli, Maria Grazia, Totaro, Martina, Colonna, Clara, Carrera, Paola, Raviglione, Federico
Publicado 2023

NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis

por Riva, Nilo, Pozzi, Laura, Russo, Tommaso, Pipitone, Giovanni Battista, Schito, Paride, Domi, Teuta, Agosta, Federica, Quattrini, Angelo, Carrera, Paola, Filippi, Massimo
Publicado 2022

Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches

por Di Resta, Chiara, Spiga, Ivana, Presi, Silvia, Merella, Stefania, Pipitone, Giovanni Battista, Manitto, Maria Pia, Querques, Giuseppe, Parodi, Maurizio Battaglia, Ferrari, Maurizio, Carrera, Paola
Publicado 2018

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort

por Quarantani, Gioia, Sorgente, Anna, Alfano, Massimo, Pipitone, Giovanni Battista, Boeri, Luca, Pozzi, Edoardo, Belladelli, Federico, Pederzoli, Filippo, Ferrara, Anna Maria, Montorsi, Francesco, Moles, Anna, Carrera, Paola, Salonia, Andrea, Casari, Giorgio
Publicado 2023

Locally Performed HRD Testing for Ovarian Cancer? Yes, We Can!

por Magliacane, Gilda, Brunetto, Emanuela, Calzavara, Silvia, Bergamini, Alice, Pipitone, Giovanni Battista, Marra, Giovanna, Redegalli, Miriam, Grassini, Greta, Rabaiotti, Emanuela, Taccagni, Gianluca, Pecciarini, Lorenza, Carrera, Paola, Mangili, Giorgia, Doglioni, Claudio, Cangi, Maria Giulia
Publicado 2022

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort

por Scarlino, Stefania, Domi, Teuta, Pozzi, Laura, Romano, Alessandro, Pipitone, Giovanni Battista, Falzone, Yuri Matteo, Mosca, Lorena, Penco, Silvana, Lunetta, Christian, Sansone, Valeria, Tremolizzo, Lucio, Fazio, Raffaella, Agosta, Federica, Filippi, Massimo, Carrera, Paola, Riva, Nilo, Quattrini, Angelo
Publicado 2020

Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

por Cipriani, Silvia, Guerrero‐Valero, Marta, Tozza, Stefano, Zhao, Edward, Vollmer, Veith, Beijer, Danique, Danzi, Matt, Rivellini, Cristina, Lazarevic, Dejan, Pipitone, Giovanni Battista, Grosz, Bianca Rose, Lamperti, Costanza, Marzoli, Stefania Bianchi, Carrera, Paola, Devoto, Marcella, Pisciotta, Chiara, Pareyson, Davide, Kennerson, Marina, Previtali, Stefano C., Zuchner, Stephan, Scherer, Steven S., Manganelli, Fiore, Bähler, Martin, Bolino, Alessandra
Publicado 2022

Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians

por Larcher, Alessandro, Belladelli, Federico, Fallara, Giuseppe, Rowe, Isaline, Capitanio, Umberto, Marandino, Laura, Raggi, Daniele, Capitanio, Jody Filippo, Bailo, Michele, Lattanzio, Rosangela, Barresi, Costanza, Calloni, Sonia Francesca, Barbera, Maurizio, Andreasi, Valentina, Guazzarotti, Giorgia, Pipitone, Giovanni, Carrera, Paola, Necchi, Andrea, Mortini, Pietro, Bandello, Francesco, Falini, Andrea, Partelli, Stefano, Falconi, Massimo, De Cobelli, Francesco, Salonia, Andrea
Publicado 2022