Výsledky vyhledávání - Eleonora Di Gregorio

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  1. 1
    A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

    A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) Autor Elisa Giorgio, Daniel Robyr, Malte Spielmann, Enza Ferrero, Eleonora Di Gregorio, Daniele Imperiale, Giovanna Vaula, Georgios Stamoulis, Federico Santoni, Cristiana Atzori, Laura Gasparini, Denise Ferrera, Claudio Canale, Michel Guipponi, L Pennacchio, Stylianos E. Antonarakis, Alessandro Brussino, Alfredo Brusco

    Vydáno 2015
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  2. 2
    ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

    ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 Autor Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Nicola Lo Buono, Neftj Ragusa, Cecilia Mancini, Marion Gaussen, Alessandro Calcia, Nico Mitro, Eriola Hoxha, Isabella Mura, Domenico Coviello, Young-Ah Moon, Christelle Tesson, Giovanna Vaula, Philippe Couarch, Laura Orsi, Eleonora Duregon, Mauro Papotti, Jean-François Deleuze, Jean Imbert, Chiara Costanzi, Alessandro Padovani, Paola Giunti, Marcel Maillet-Vioud, Alexandra Dürr, Alexis Brice, Filippo Tempia, Ada Funaro, Loredana Boccone, Donatella Caruso, Giovanni Stévanin, Alfredo Brusco

    Vydáno 2014
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  3. 3
    Analysis of <i> <scp> <i>LMNB</i> </scp> 1 </i> Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression

    Analysis of <i> <scp> <i>LMNB</i> </scp> 1 </i> Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression Autor Elisa Giorgio, Harshvardhan Rolyan, Laura E. Kropp, Anish Bhaswanth Chakka, Svetlana A. Yatsenko, Eleonora Di Gregorio, Daniela Lacerenza, Giovanna Vaula, Flavia Talarico, Paola Mandich, Camilo Toro, Éléonore Eymard-Pierre, Pierre Labauge, Sabina Capellari, Pietro Cortelli, Filippo Pinto e Vairo, Diego Miguel, Danielle Stubbolo, Lourenco Charles Marques, William A. Gahl, Odile Boespflug‐Tanguy, Atle Melberg, Sharon Hassin‐Baer, Oren Cohen, Rastislav Pjontek, Armin Grau, Thomas Klopstock, Brent L. Fogel, Inge A. Meijer, Guy A. Rouleau, Jean‐Pierre Bouchard, Madhavi K. Ganapathiraju, Adeline Vanderver, Niklas Dahl, Grace M. Hobson, Alfredo Brusco, Alessandro Brussino, Quasar Saleem Padiath

    Vydáno 2013
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  4. 4
    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD Autor Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer Howe, Emanuele Agolini, Domenico Coviello, Ingrid M.B.H. van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia Pia Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoît Mazel, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Marjon A. van Slegtenhorst, Noor A. A. Giesbertz, Richard H. van Jaarsveld, Anna K. Childers, R. Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D. Buxbaum, Stephen W. Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco

    Vydáno 2022
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  5. 5
    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome Autor María 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 Maria de Souza‐Motta, Massimo Molteni, Corrado Romano, Donatella Greco, S Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D’Arrigo, Daria Riva, Francesca L. Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frédérique Béna, Alfredo Brusco, Eleonora Di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, María Luisa Martínez‐Frías, M.L. Martínez‐Fernández, N. Martínez Guardia, Anna Bremer, Britt‐Marie Anderlid, Orsetta Zuffardi

    Vydáno 2011
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