Resultats de la cerca - Roberta Biancheri

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  1. 1
    The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a

    The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a per Paola Feraco, Marisol Mirabelli-Badenier, Mariasavina Severino, M. G. Alpigiani, Maja Di Rocco, Roberta Biancheri, Andrea Rossi

    Publicat 2012
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  2. 2
    Cell Line and DNA Biobank From Patients Affected by Genetic Diseases

    Cell Line and DNA Biobank From Patients Affected by Genetic Diseases per Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini, Marina Stroppiano, Giorgia Stroppiana, Serena Grossi, Susanna Lualdi, Barbara Tappino, Federica Lanza, Sara Galotto, Roberta Biancheri

    Publicat 2014
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  3. 3
    Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

    Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease per Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, D.N. Cooper, Mirella Filocamo

    Publicat 2010
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  4. 4
    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy per Filippo M. Santorelli, Barbara Garavaglia, Francesco Cardona, Nardo Nardocci, Bernardo Dalla Bernardina, Stefano Sartori, Agnese Suppiej, Enrico Bertini, Dianela Claps, Roberta Battini, Roberta Biancheri, Mirella Filocamo, Francesco Pezzini, Alessandro Simonati

    Publicat 2013
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  5. 5
    The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

    The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane per Jeremy M. Baskin, Xudong Wu, Romain Christiano, Michael S. Oh, Curtis Schauder, Elisabetta Gazzerro, Mirko Messa, Sımona Baldassari, Stefania Assereto, Roberta Biancheri, Federico Zara, Carlo Minetti, Andrea Raimondi, Mikael Simons, Tobias C. Walther, Karin M. Reinisch, Pietro De Camilli

    Publicat 2015
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  6. 6
    The genotypic and phenotypic spectrum of PIGA deficiency

    The genotypic and phenotypic spectrum of PIGA deficiency per Maja Tarailo‐Graovac, Graham Sinclair, Sylvia Stöckler‐Ipsiroglu, Margot Van Allen, Jacob Rozmus, Casper Shyr, Roberta Biancheri, Tracey Oh, Bryan Sayson, Mirafe Lafek, Colin J.D. Ross, Wendy P. Robinson, Wyeth W. Wasserman, Andrea Rossi, Clara DM van Karnebeek

    Publicat 2015
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  7. 7
    Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations

    Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations per Pasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, Francesca Madia, Elena Di Gennaro, Roberta Paravidino, Francesca Beccaria, Giuseppe Capovilla, Bernardo Dalla Bernardina, Francesca Darra, Maurizio Elia, Lucio Giordano, Giuseppe Gobbi, Tiziana Granata, Francesca Ragona, Renzo Guerrini, Carla Marini, Davide Mei, Francesca Longaretti, Antonino Romeo, Laura Siri, Nicola Specchio, Federico Vigevano, Salvatore Striano, Fabio Tortora, Andrea Rossi, Carlo Minetti, Charlotte Dravet, R. Gaggero, Federico Zara

    Publicat 2007
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  8. 8
    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome per Gillian Rice, Teresa Patrick, Rekha Parmar, Claire Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward Blair, Nenad Blau, David T. Bonthron, Tracy A. Briggs, Louise Brueton, Han G. Brunner, Christopher J. Burke, Ian Carr, Daniel R. Carvalho, Kate Chandler, H.‐J. Christen, Peter Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G.M. Frints, Àngels García‐Cazorla, Blanca Gener, Cyril Goizet, Françoise Goutières, Andrew Green, Agnès Guët, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. M. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong‐hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, W Kratzer, Didier Lacombe, Lieven Lagae, P. Landrieu, Giovanni Lanzi, Andrea Leitch, Ming Lim, John H. Livingston, Charles Marques Lourenço, E G Hermione Lyall, Sally Ann Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melançon, Leena Mewasingh, Marie‐Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth Rosser, Kevin Rostásy, Agathe Roubertie, Amparo Sanchís, Raphael Schiffmann, Sabine Scholl‐Bürgi, Sunita Seal, Stavit A. Shalev, Concepción Sierra Córcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John Tolmie

    Publicat 2007
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