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

by Giorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, Alessandro Brussino, Enrico Grosso, Elisa Savin, Daniela Francesca Giachino, Alfredo Brusco
Published 2014-01-01

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

by Slavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, Diana Carli, Lisa Pavinato, Geoffroy Delplancq, Paul Kuentz, Alfredo Brusco
Published 2020-10-01

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

by Laura Cristina Gironi, Enrico Colombo, Alfredo Brusco, Enrico Grosso, Valeria Giorgia Naretto, Andrea Guala, Eleonora Di Gregorio, Andrea Zonta, Francesca Zottarelli, Barbara Pasini, Paola Savoia
Published 2019-07-01

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice

by Eriola Hoxha, Eriola Hoxha, Rebecca M. C. Gabriele, Ilaria Balbo, Francesco Ravera, Linda Masante, Vanessa Zambelli, Cristian Albergo, Nico Mitro, Donatella Caruso, Eleonora Di Gregorio, Alfredo Brusco, Barbara Borroni, Filippo Tempia, Filippo Tempia, Filippo Tempia
Published 2017-10-01

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

by Cecilia Mancini, Eriola Hoxha, Luisa Iommarini, Alessandro Brussino, Uwe Richter, Francesca Montarolo, Claudia Cagnoli, Roberta Parolisi, Diana Iulia Gondor Morosini, Valentina Nicolò, Francesca Maltecca, Luisa Muratori, Giulia Ronchi, Stefano Geuna, Francesca Arnaboldi, Elena Donetti, Elisa Giorgio, Simona Cavalieri, Eleonora Di Gregorio, Elisa Pozzi, Marta Ferrero, Evelise Riberi, Giorgio Casari, Fiorella Altruda, Emilia Turco, Giuseppe Gasparre, Brendan J. Battersby, Anna Maria Porcelli, Enza Ferrero, Alfredo Brusco, Filippo Tempia
Published 2019-04-01

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

by Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi
Published 2011-07-01