Výsledky vyhledávání - Pablo Iruzubieta

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  1. 1
    The <i>FGF14</i><scp>GAA</scp> repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the <scp>SCA27B</scp> phenotype across populations

    The <i>FGF14</i><scp>GAA</scp> repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the <scp>SCA27B</scp> phenotype across populations Autor Chrisoula Kartanou, Alexandros Mitrousias, David Pellerin, Zoi Kontogeorgiou, Pablo Iruzubieta, Marie‐Josée Dicaire, Matt C. Danzi, Chrysoula Koniari, Konstantinos Athanassopoulos, Μάριος Πάνας, Leonidas Stefanis, Stephan Züchner, Bernard Brais, Henry Houlden, Georgia Karadima, Georgios Koutsis

    Vydáno 2024
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  2. 2
    Frequency of GAA- <i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

    Frequency of GAA- <i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia Autor Luiz Eduardo Novis, Rodrigo Siqueira Soares Frezatti, David Pellerin, Pedro José Tomaselli, Shahryar Alavi, Marcus Vinícius Della Coleta, Mariana Spitz, Marie‐Josée Dicaire, Pablo Iruzubieta, José Luiz Pedroso, Orlando Graziani Póvoas Barsottini, Andrea Cortese, Matt C. Danzi, Marcondes C. França, Bernard Brais, Stephan Züchner, Henry Houlden, Salmo Raskin, Wilson Marques, Hélio Afonso Ghizoni Teive

    Vydáno 2023
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  3. 3
    Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia

    Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia Autor Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albájar, Elisabet Mondragón, Ana Vinagre‐Aragón, Roberto Fernández‐Torrón, Fermín Moreno, Jon Equiza, David Campo‐Caballero, Juan José Poza, M. Ruibal, Alessandro Formica, Marie‐Josée Dicaire, Matt C. Danzi, Stephan Züchner, Ioana Croitoru, Montserrat Ruíz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munaín, Javier Ruiz‐Martínez

    Vydáno 2023
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  4. 4
    Involvement of the Superior Cerebellar Peduncles in GAA- <i>FGF14</i> Ataxia

    Involvement of the Superior Cerebellar Peduncles in GAA- <i>FGF14</i> Ataxia Autor Shihan Chen, Catherine Ashton, Rawan Sakalla, Guillemette Clément, Sophie Planel, Céline Bonnet, Phillipa J. Lamont, Karthik Kulanthaivelu, Atchayaram Nalini, Henry Houlden, Antoine Duquette, Marie-Josée Dicaire, Pablo Iruzubieta, Javier Ruiz‐Martínez, Erin P. Lucas, Rodrigo Sutil Berjon, Jon Infante, Elisabetta Indelicato, Sylvia Boesch, Matthis Synofzik, Benjamin Bender, Matt C. Danzi, Stephan Züchner, David Pellerin, Bernard Brais, Mathilde Renaud, Roberta La Piana

    Vydáno 2025
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  5. 5
    Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

    Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B Autor Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anaïs Grosset, Inès Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Bossenmeyer‐Pourié, Natacha Dreumont, Salomé Puisieux, Pablo Iruzubieta, Marie‐Josée Dicaire, François Evoy, Marie‐France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C. Danzi, Stephan Züchner, Bernard Brais, M. Renaud

    Vydáno 2023
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  6. 6
    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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