Výsledky vyhledávání - Fabienne Clot

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  1. 1
    Myoclonus‐dystonia: An update

    Myoclonus‐dystonia: An update Autor Kiyoka Kinugawa, Marie Vidailhet, Fabienne Clot, Emmanuelle Apartis, David Grabli, Emmanuel Roze

    Vydáno 2009
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  2. 2
    <i>DCTN1</i>Mutation Analysis in Families With Progressive Supranuclear Palsy–Like Phenotypes

    <i>DCTN1</i>Mutation Analysis in Families With Progressive Supranuclear Palsy–Like Phenotypes Autor Paola Caroppo, Isabelle Le Ber, Fabienne Clot, Sophie Rivaud-Péchoux, Agnès Camuzat, Anne de Septenville, Claire Boutoleau‐Bretonnière, Vanessa Mourlon, Mathilde Sauvée, Thibaud Lebouvier, Anne-Marie Bonnet, Richard Lévy, Martine Vercelletto, Alexis Brice

    Vydáno 2014
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  3. 3
    Defining the spectrum of frontotemporal dementias associated with <i>TARDBP</i> mutations

    Defining the spectrum of frontotemporal dementias associated with <i>TARDBP</i> mutations Autor Paola Caroppo, Agnès Camuzat, Léna Guillot‐Noël, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber

    Vydáno 2016
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  4. 4
    Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms

    Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms Autor Vincent Huin, Mathieu Barbier, Armand Bottani, Johannes Alexander Lobrinus, Fabienne Clot, Foudil Lamari, Laureen Chat, Benoît Rucheton, Frédérique Fluchère, Stéphane Auvin, Peter L. Myers, A. Gélot, Agnès Camuzat, Catherine Caillaud, Ludmila Jornéa, Sylvie Forlani, Dario Saracino, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Isabelle Le Ber

    Vydáno 2019
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  5. 5
    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation Autor Jean‐Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Guéguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, E. Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne‐Françoise Roux, Benjamin Cogné, David Baux

    Vydáno 2023
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  6. 6
    Plasma NfL levels and longitudinal change rates in <i>C9orf72</i> and <i>GRN</i>-associated diseases: from tailored references to clinical applications

    Plasma NfL levels and longitudinal change rates in <i>C9orf72</i> and <i>GRN</i>-associated diseases: from tailored references to clinical applications Autor Dario Saracino, Karim Dorgham, Agnès Camuzat, Daisy Rinaldi, Armelle Rametti‐Lacroux, Marion Houot, Fabienne Clot, Philippe Martin-Hardy, Ludmila Jornéa, Carole Azuar, Raffaella Migliaccio, Florence Pasquier, Philippe Couratier, Sophie Auriacombe, Mathilde Sauvée, Claire Boutoleau‐Bretonnière, Jérémie Pariente, Mira Didic, Didier Hannequin, David Wallon, Olivier Colliot, Bruno Dubois, Alexis Brice, Richard Lévy, Sylvie Forlani, Isabelle Le Ber

    Vydáno 2021
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  7. 7
    Characterization of Recessive Parkinson Disease in a Large Multicenter Study

    Characterization of Recessive Parkinson Disease in a Large Multicenter Study Autor Suzanne Lesage, Ariane Lunati, Marion Houot, Sawssan Ben Romdhan, Fabienne Clot, Christelle Tesson, Graziella Mangone, Benjamin Le Toullec, Thomas Courtin, Kathy Larcher, Mustapha Benmahdjoub, Mohamed Arezki, Ahmed Bouhouche, Mathieu Anheim, Emmanuel Roze, François Viallet, François Tison, Emmanuel Broussolle, Murat Emre, Haşmet Hanağası, Başar Bılgıç, Mériem Tazir, Mouna Ben Djebara, Riadh Gouider, Christine Tranchant, Marie Vidailhet, E. Le Guern, Olga Corti, Chokri Mhiri, Ebba Lohmann, Andrew Singleton, Jean‐Christophe Corvol, Alexis Brice

    Vydáno 2020
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  8. 8
    Genome Search in Celiac Disease

    Genome Search in Celiac Disease Autor Luigi Greco, Gino Roberto Corazza, Marie‐Claude Babron, Fabienne Clot, Marie-Claude Fulchignoni-Lataud, Selvaggia Percopo, Patrizia Zavattari, F. Bouguerra, Colette Dib, Roberto Tosi, Riccardo Bonfanti, Alessandro Ventura, Wilma Mantavoni, Giuseppe Magazzù, Rosanna Gatti, R Lazzari, Annamaria Giunta, Francesco Perri, Giuseppe Iacono, E Cardi, S. De Virgiliis, F Cataldo, Gianluigi De Angelis, S Musumeci, Roberto Ferrari, Fiorella Balli, Maria Teresa Bardella, Umberto Volta, Carlo Catassi, Giuliano Torre, Jean François Eliaou, Jean Louis Serre, Françoise Clerget‐Darpoux

    Vydáno 1998
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  9. 9
    Primary Progressive Aphasia Associated With <i>GRN</i> Mutations

    Primary Progressive Aphasia Associated With <i>GRN</i> Mutations Autor Dario Saracino, Sophie Ferrieux, Marie Noguès-Lassiaille, Marion Houot, Aurélie Funkiewiez, Leila Sellami, Vincent Deramecourt, Florence Pasquier, Philippe Couratier, Jérémie Pariente, Amandine Géraudie, Stéphane Epelbaum, David Wallon, Didier Hannequin, Olivier Martinaud, Fabienne Clot, Agnès Camuzat, Simona Bottani, Daisy Rinaldi, Sophie Auriacombe, Marie Sarazin, Mira Didic, Claire Boutoleau‐Bretonnière, Christel Thauvin-Robinet, Julien Lagarde, Carole Roué-Jagot, François Sellal, Audrey Gabelle, Frédérique Etcharry‐Bouyx, Alexandre Morin, Cinzia Coppola, Richard Lévy, Bruno Dubois, Alexis Brice, Olivier Colliot, Maria Luisa Gorno‐Tempini, Marc Teichmann, Raffaella Migliaccio, Isabelle Le Ber, Ftd Ftd-Als French Research Network On

    Vydáno 2021
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  10. 10
    Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

    Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers Autor Clémence Fournier, Mathieu Barbier, Agnès Camuzat, Vincent Anquetil, Serena Lattante, Fabienne Clot, Cécile Cazeneuve, Daisy Rinaldi, Philippe Couratier, Vincent Deramecourt, Mario Sabatelli, Serge Belliard, Martine Vercelletto, Sylvie Forlani, Ludmila Jornéa, Eric Leguern, Alexis Brice, Isabelle Le Ber, Alexis Brice, Sophie Auriacombe, Serge Belliard, Fréderic Blanc, Claire Bouteleau-Bretonnière, Mathieu Ceccaldi, Philippe Couratier, Mira Didic, Bruno Dubois, Charles Duyckaerts, Frédérique Etcharry-Bouix, Véronique Golfier, Didier Hannequin, Lucette Lacomblez, Isabelle Le Ber, Richard Lévy, Bernard‐François Michel, Florence Pasquier, Catherine Thomas-Antérion, Jérémie Pariente, François Sellal, Martine Vercelletto, Eve Benchetrit, Hugo Bertin, Anne Bertrand, Anne Bissery, Stéphanie Bombois, Marie-Paule Boncœur, Pascaline Cassagnaud, Mathieu Chastan, Yaohua Chen, Marie Chupin, Olivier Colliot, Philippe Couratier, Xavier Delbeucq, Vincent Deramecourt, Christine Delmaire, Emmanuel Gerardin, Claude Hossein-Foucher, Bruno Dubois, Marie‐Odile Habert, Didier Hannequin, Géraldine Lautrette, Thibaud Lebouvier, Isabelle Le Ber, Stéphane Lehericy, Benjamin Le Toullec, Richard Lévy, Kelly Martineau, Marie‐Anne Mackowiak, Jacques Monteil, Florence Pasquier, G. Petyt, Pierre-François Pradat, Assi-Hervé Oya, Daisy Rinaldi, Adeline Rollin‐Sillaire, François Salachas, Sabrina Sayah, David Wallon

    Vydáno 2018
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  11. 11
    A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors

    A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors Autor Imogen J. Swift, Rosa Rademakers, NiCole A. Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel Tadao Takada, Raquel Sánchez‐Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, María Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosário Almeida, Fermín Moreno, Myriam Barandiarán, Alazne Gabilondo, Johannes Stubert, Estrella Gómez‐Tortosa, Pablo Agüero, María José Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel‐Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Liu C, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia C. Bruni, Mirja Quante, Wieland Kieß, Andreas Hiemisch, Anne Jurkutat, Matthew S. Block, Aaron Carlson, Geir Bråthen, Sigrid Botne Sando, Gøril Rolfseng Grøntvedt, Camilla Lauridsen, Amanda Heslegrave, Carolin Heller, Emily K. Abel, Alba Gómez‐Núñez, Roger Puey, Andrea Arighi, Enmanuela Rotondo, Lize C. Jiskoot, Lieke Meeter, João Durães, Marisa Lima, Miguel Tábuas‐Pereira, João Lemos, Bradley F. Boeve, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff‐Radford, Isabelle Leber, Leila Sellami, Foudil Lamari, Fabienne Clot, Barbara Borroni, Valentina Cantoni, Jasmine Rivolta, Alberto Lleó, Juan Fortea, Daniel Alcolea, Ignacio Illán‐Gala, Lucie Andres-Cerezo, Philip Van Damme, Jordi Clarimón, Petra Steinacker, Emily Feneberg, Markus Otto, Emma L. van der Ende, John C. van Swieten, Harro Seelaar, Henrik Zetterberg, Aitana Sogorb‐Esteve, Jonathan D. Rohrer

    Vydáno 2024
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