Výsledky vyhledávání - Valentina Galassi Deforie

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  1. 1
    Increased frequency of repeat expansion mutations across different populations

    Increased frequency of repeat expansion mutations across different populations Autor Kristina Ibáñez, Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini, Paras Garg, Alejandro Martin-Trujillo, Scott J Gies, Valentina Galassi Deforie, Anupriya Dalmia, Davina J. Hensman Moss, Jana Vandrovcová, Clarissa Rocca, Loukas Moutsianas, Chiara Marini‐Bettolo, Helen Walker, Chris Turner, Maryam Shoai, Jeffrey D. Long, Pietro Fratta, Douglas R. Langbehn, Sarah J. Tabrizi, Mark J. Caulfield, Andrea Cortese, Valentina Escott‐Price, John Hardy, Henry Houlden, Andrew J. Sharp, Arianna Tucci

    Vydáno 2024
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  2. 2
    <i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy

    <i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy Autor Riccardo Currò, Alessandro Salvalaggio, Stefano Tozza, Chiara Gemelli, Natalia Dominik, Valentina Galassi Deforie, Francesca Magrinelli, Francesca Castellani, Elisa Vegezzi, Pietro Businaro, Ilaria Callegari, Anna Pichiecchio, Giuseppe Cosentino, Enrico Alfonsi, Enrico Marchioni, Silvia Colnaghi, Simone Gana, Enza Maria Valente, Cristina Tassorelli, Stéphanie Efthymiou, Stefano Facchini, Aisling Carr, Matilde Laurá, Alexander M. Rossor, Hadi Manji, Michael P. Lunn, Elena Pegoraro, Lucio Santoro, Marina Grandis, Emilia Bellone, Nicholas Beauchamp, Marios Hadjivassiliou, Diego Kaski, Adolfo M. Bronstein, Henry Houlden, Mary M. Reilly, Paola Mandich, Angelo Schenone, Fiore Manganelli, Chiara Briani, Andrea Cortese

    Vydáno 2021
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  3. 3
    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Autor Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández‐Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard Roxburgh, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo López de Munaín, Fiore Manganelli, Marina Kennerson, Filippo M. Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M. Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferrán Prados, Tarek Yousry, Vikram Khurana, Sheng‐Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette M. Hartmann, Nazlı Başak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M. Reilly, Henry Houlden, Andrea Cortese

    Vydáno 2023
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  4. 4
    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Autor Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández‐Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard Roxburgh, Inés Albájar, Catherine Ashton, Nick Beauchamp, Sarah J. Beecroft, Emilia Bellone, José Berciano, Petya Bogdanova‐Mihaylova, Barbara Borroni, Bernard Brais, Enrico Bugiardini, Catarina Falcão de Campos, Aisling Carr, Liam Carroll, Francesca Castellani, Tiziana Cavallaro, Patrick F. Chinnery, Silvia Colnaghi, Giuseppe Cosentino, Joana Damásio, Soma Das, Grazia Devigili, Daniela Di Bella, D J Dick, Alexandra Dürr, Amar El-Saddig, Jennifer Faber, Moreno Ferrarini, Massimiliano Filosto, Geraint Fuller, Salvatore Gallone, Chiara Gemelli, Marina Grandis, John Hardy, Channa Hewamadduma, Rita Horváth, Vincent Huin, Daniele Imperiale, Pablo Iruzubieta, Diego Kaski, Andrew King, Thomas Klockgether, Müge Kovancılar Koç, Kishore R. Kumar, Thierry Küntzer, Nigel G. Laing, Matilde Laurá, Timothy Lavin, Peter Leigh, Lea Leonardis, Michael P. Lunn, Stefania Magri, Francesca Magrinelli, Maria João Malaquias, Michelangelo Mancuso, Hadi Manji, Sara Massucco, John McConville, Renato P. Munhoz, Sara Nagy, Alain Ndayisaba, Andrea H. Németh, Luiz Eduardo Novis, Johanna Palmio, Elena Pegoraro, David Pellerin, Benedetta Perrone, Chiara Pisciotta, James M. Polke, Malcolm J. Proudfoot, Laura Orsi, Aleksandar Radunović, Nilo Riva, Aiko Robert, Riccardo Ronco, Elena Rossini, Alexander M. Rossor, Irmak Şahbaz, Qais Sa’di, Ettore Salsano, Alessandro Salvalaggio, Lucio Santoro, Elisa Sarto

    Vydáno 2024
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