Resultados de procura - Romina Romaniello

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  1. 1
    Epilepsy in Tubulinopathy: Personal Series and Literature Review

    Epilepsy in Tubulinopathy: Personal Series and Literature Review por Romina Romaniello, Claudio Zucca, Filippo Arrigoni, Paolo Bonanni, Elena Panzeri, Maria Teresa Bassi, Renato Borgatti

    Publicado 2019
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  2. 2
    A novel mutation in the β‐tubulin gene <i>TUBB2B</i> associated with complex malformation of cortical development and deficits in axonal guidance

    A novel mutation in the β‐tubulin gene <i>TUBB2B</i> associated with complex malformation of cortical development and deficits in axonal guidance por Romina Romaniello, Alessandra Tonelli, Filippo Arrigoni, Cinzia Baschirotto, Fabio Triulzi, Nereo Bresolin, Maria Teresa Bassi, Renato Borgatti

    Publicado 2012
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  3. 3
    Brain malformations and mutations in <i>α</i>‐ and <i>β</i>‐tubulin genes: a review of the literature and description of two new cases

    Brain malformations and mutations in <i>α</i>‐ and <i>β</i>‐tubulin genes: a review of the literature and description of two new cases por Romina Romaniello, Filippo Arrigoni, Anna Cavallini, Erika Tenderini, Cinzia Baschirotto, Fabio Triulzi, Maria Teresa Bassi, Renato Borgatti

    Publicado 2014
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  4. 4
    Biological pathways leading to septo-optic dysplasia: a review

    Biological pathways leading to septo-optic dysplasia: a review por Ludovica Pasca, Davide Politano, Federica Morelli, Jessica Garau, Sabrina Signorini, Enza Maria Valente, Renato Borgatti, Romina Romaniello

    Publicado 2025
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  5. 5
    Tubulin genes and malformations of cortical development

    Tubulin genes and malformations of cortical development por Romina Romaniello, Filippo Arrigoni, Andrew E. Fry, Maria Teresa Bassi, Mark I. Rees, Renato Borgatti, Daniela T. Pilz, Thomas D. Cushion

    Publicado 2018
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  6. 6
    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

    Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI por Andrea Poretti, Giuseppina Vitiello, Raoul C. M. Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D’Arrigo, Francesca Faravelli, Lucio Giordano, Thierry A.G.M. Huisman, Miriam Iannicelli, Gerhard Kluger, Mårten Kyllerman, Magnus Landgren, Melissa Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E. Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen Boltshauser

    Publicado 2012
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  7. 7
    Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

    Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) por Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, D. Rating, Romina Romaniello, Filippo M. Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser, Enza Maria Valente

    Publicado 2016
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  8. 8
    The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

    The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature por Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Mélanie Fradin, Yline Capri, Delphine Héron, Marie‐Christine Nouguès, Caroline Nava, Oana Tarta Arsene, Debbie Shears, John Taylor, Alistair T. Pagnamenta, Jenny C. Taylor, Yoshimi Sogawa, Diana Johnson, Helen V. Firth, Pradeep Vasudevan, Gabriela Jones, Marie-Ange Nguyen-Morel, Tiffany Busa, Agathe Roubertie, Myrthe van den Born, Elise Brischoux‐Boucher, M. Kœnig, Cyril Mignot, Usha Kini, Christophe Philippe

    Publicado 2018
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  9. 9
    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome por Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L. Silhavy, Rasim Özgür Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S. Zaki, Kathryn J. Swoboda, Joanne Milisa-Drautz, William B. Dobyns, Mohamad A. Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose‐Mary Boustany, Carol L. Clericuzio, Stefano D’Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A. Johnson, Michael Freilinger, Keith K. Vaux, Stacey Gabriel, Pedro Aza‐Blanc, Susanne Heynen‐Genel, Trey Ideker, Brian David Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G. Gleeson

    Publicado 2015
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  10. 10
    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias por Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, Judith Van Gaalen, Joana Damásio, Zofia Fleszar, Michele Tosi, Clarissa Rocca, Giovanna De Michele, Martina Minnerop, Claire Ewenczyk, Filippo M. Santorelli, Anna Heinzmann, Thomas D. Bird, Matthias Amprosi, Elisabetta Indelicato, Alberto Benussi, Perrine Charles, Claudia Stendel, Silvia Romano, Marina Scarlato, Isabelle Le Ber, Maria Teresa Bassi, Mercedes Serrano, Tanja Schmitz‐Hübsch, Sarah Doss, Gijs A.J. Van Velzen, Quentin Thomas, Antonio Trabacca, Juan Darío Ortigoza‐Escobar, Stefano D’Arrigo, Dagmar Timmann, Chiara Pantaleoni, Andrea Martinuzzi, Elsa Besse-Pinot, Luca Marsili, Ettore Cioffi, Francesco Nicita, Alejandro Giorgetti, Isabella Moroni, Romina Romaniello, Carlo Casali, Penina Ponger, Giorgio Casari, Susanne T. de Bot, Giovanni Ristori, Lubov Blumkin, Barbara Borroni, Cyril Goizet, Cécilia Marelli, Sylvia Boesch, Mathieu Anheim, Alessandro Filla, Henry Houlden, Enrico Bertini, Thomas Klopstock, Matthis Synofzik, Florence Riant, Ginevra Zanni, Stefania Magri, Daniela Di Bella, Lorenzo Nanetti, Jorge Sequeiros, Jorge Oliveira, Bart van de Warrenburg, Lüdger Schöls, Franco Taroni, Alexis Brice, Alexandra Dürr

    Publicado 2023
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