A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

por Mandrile, Giorgia, Di Gregorio, Eleonora, Calcia, Alessandro, Brussino, Alessandro, Grosso, Enrico, Savin, Elisa, Giachino, Daniela Francesca, Brusco, Alfredo
Publicado 2014

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

por Trajkova, Slavica, Di Gregorio, Eleonora, Ferrero, Giovanni Battista, Carli, Diana, Pavinato, Lisa, Delplancq, Geoffroy, Kuentz, Paul, Brusco, Alfredo
Publicado 2020

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

por Gironi, Laura Cristina, Colombo, Enrico, Brusco, Alfredo, Grosso, Enrico, Naretto, Valeria Giorgia, Guala, Andrea, Di Gregorio, Eleonora, Zonta, Andrea, Zottarelli, Francesca, Pasini, Barbara, Savoia, Paola
Publicado 2019

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)

por Borroni, Barbara, Di Gregorio, Eleonora, Orsi, Laura, Vaula, Giovanna, Costanzi, Chiara, Tempia, Filippo, Mitro, Nico, Caruso, Donatella, Manes, Marta, Pinessi, Lorenzo, Padovani, Alessandro, Brusco, Alfredo, Boccone, Loredana
Publicado 2016

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice

por Hoxha, Eriola, Gabriele, Rebecca M. C., Balbo, Ilaria, Ravera, Francesco, Masante, Linda, Zambelli, Vanessa, Albergo, Cristian, Mitro, Nico, Caruso, Donatella, Di Gregorio, Eleonora, Brusco, Alfredo, Borroni, Barbara, Tempia, Filippo
Publicado 2017

Elovl5 is required for proper action potential conduction along peripheral myelinated fibers

por Hoxha, Eriola, Balbo, Ilaria, Parolisi, Roberta, Audano, Matteo, Montarolo, Francesca, Ravera, Francesco, Guglielmotto, Michela, Muratori, Luisa, Raimondo, Stefania, DiGregorio, Eleonora, Buffo, Annalisa, Brusco, Alfredo, Borroni, Barbara, Mitro, Nico, Caruso, Donatella, Tempia, Filippo
Publicado 2021

In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients

por Pozzi, Elisa, Giorgio, Elisa, Mancini, Cecilia, Lo Buono, Nicola, Augeri, Stefania, Ferrero, Marta, Di Gregorio, Eleonora, Riberi, Evelise, Vinciguerra, Maria, Nanetti, Lorenzo, Bianchi, Federico Tommaso, Sassi, Maria Paola, Costanzo, Vincenzo, Mariotti, Caterina, Funaro, Ada, Cavalieri, Simona, Brusco, Alfredo
Publicado 2020

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

por Giorgio, Elisa, Robyr, Daniel, Spielmann, Malte, Ferrero, Enza, Di Gregorio, Eleonora, Imperiale, Daniele, Vaula, Giovanna, Stamoulis, Georgios, Santoni, Federico, Atzori, Cristiana, Gasparini, Laura, Ferrera, Denise, Canale, Claudio, Guipponi, Michel, Pennacchio, Len A., Antonarakis, Stylianos E., Brussino, Alessandro, Brusco, Alfredo
Publicado 2015

Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38

por Manes, Marta, Alberici, Antonella, Di Gregorio, Eleonora, Boccone, Loredana, Premi, Enrico, Mitro, Nico, Pasolini, Maria Pia, Pani, Claudia, Paghera, Barbara, Perani, Daniela, Orsi, Laura, Costanzi, Chiara, Ferrero, Marta, Zoppo, Adele, Tempia, Filippo, Caruso, Donatella, Grassi, Mario, Padovani, Alessandro, Brusco, Alfredo, Borroni, Barbara
Publicado 2017

Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot

por Ferrero, Enza, Di Gregorio, Eleonora, Ferrero, Marta, Ortolan, Erika, Moon, Young-Ah, Di Campli, Antonella, Pavinato, Lisa, Mancini, Cecilia, Tripathy, Debasmita, Manes, Marta, Hoxha, Eriola, Costanzi, Chiara, Pozzi, Elisa, Rossi Sebastiano, Matteo, Mitro, Nico, Tempia, Filippo, Caruso, Donatella, Borroni, Barbara, Basso, Manuela, Sallese, Michele, Brusco, Alfredo
Publicado 2023

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

por Mancini, Cecilia, Orsi, Laura, Guo, Yiran, Li, Jiankang, Chen, Yulan, Wang, Fengxiang, Tian, Lifeng, Liu, Xuanzhu, Zhang, Jianguo, Jiang, Hui, Nmezi, Bruce Shike, Tatsuta, Takashi, Giorgio, Elisa, Di Gregorio, Eleonora, Cavalieri, Simona, Pozzi, Elisa, Mortara, Paolo, Caglio, Maria Marcella, Balducci, Alessandro, Pinessi, Lorenzo, Langer, Thomas, Padiath, Quasar S, Hakonarson, Hakon, Zhang, Xiuqing, Brusco, Alfredo
Publicado 2015

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

por Di Gregorio, Eleonora, Savin, Elisa, Biamino, Elisa, Belligni, Elga Fabia, Naretto, Valeria Giorgia, D’Alessandro, Gaetana, Gai, Giorgia, Fiocchi, Franco, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Talarico, Flavia, Pappi, Patrizia, Gandione, Marina, Grosso, Monica, Asnaghi, Valentina, Restagno, Gabriella, Mandrile, Giorgia, Botta, Giovanni, Silengo, Margherita Cirillo, Grosso, Enrico, Ferrero, Giovanni Battista, Brusco, Alfredo
Publicado 2014

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

por Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
Publicado 2011