نتائج البحث - Anne‐Claire Richard

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  1. 1
    Integrative Omics reveals changes in the cellular landscape of peroxisome-deficient pex3 yeast cells

    Integrative Omics reveals changes in the cellular landscape of peroxisome-deficient pex3 yeast cells حسب Tjaša Košir, Hirak Das, M. Pedersén, Anne‐Claire Richard, Marco Anteghini, Vítor A. P. Martins dos Santos, Silke Oeljeklaus, Ida J. van der Klei, Bettina Warscheid

    منشور في 2025
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  2. 2
    Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

    Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing حسب Stéphanie David, Joana Ferreira, Olivier Quenez, Anne Rovelet‐Lecrux, Anne‐Claire Richard, Marc Vérin, Snejana Jurici, Isabelle Le Ber, Anne Boland, Jean‐François Deleuze, Thierry Frébourg, João Ricardo Mendes de Oliveira, Didier Hannequin, Dominique Campion, Gaël Nicolas

    منشور في 2016
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  3. 3
    Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

    Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease حسب Gaël Nicolas, Rocío Acuña‐Hidalgo, Michael J. Keogh, Olivier Quenez, Marloes Steehouwer, Stefan H. Lelieveld, Stéphane Rousseau, Anne‐Claire Richard, Manon S. Oud, Florent Marguet, Annie Laquerrière, Christopher M. Morris, Johannes Attems, Colin Smith, Olaf Ansorge, Safa Al Sarraj, Thierry Frébourg, Dominique Campion, Didier Hannequin, David Wallon, Christian Gilissen, Patrick F. Chinnery, Joris A. Veltman, Alexander Hoischen

    منشور في 2018
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  4. 4
    TYROBP genetic variants in early-onset Alzheimer's disease

    TYROBP genetic variants in early-onset Alzheimer's disease حسب Cyril Pottier, Thomas A. Ravenscroft, Patricia H. Brown, NiCole A. Finch, Matt Baker, Meeia Parsons, Yan W. Asmann, Yingxue Ren, Elizabeth Christopher, Denise Levitch, Marka van Blitterswijk, Carlos Cruchaga, Dominique Campion, Gaël Nicolas, Anne-Claire Richard, Rita Guerreiro, José Brás, Stephan Züchner, Michael Gonzalez, Guojun Bu, Steven G. Younkin, David S. Knopman, Keith A. Josephs, Joseph E. Parisi, Ronald C. Petersen, Nilüfer Ertekin‐Taner, Neill R. Graff‐Radford, Bradley F. Boeve, Dennis W. Dickson, Rosa Rademakers

    منشور في 2016
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  5. 5
    APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

    APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases حسب Hélène-Marie Lanoiselée, Gaël Nicolas, David Wallon, Anne Rovelet‐Lecrux, Morgane Lacour, Stéphane Rousseau, Anne‐Claire Richard, Florence Pasquier, Adeline Rollin‐Sillaire, Olivier Martinaud, Muriel Quillard‐Muraine, Vincent de La Sayette, Claire Boutoleau‐Bretonnière, Frédérique Etcharry‐Bouyx, Valérie Chauviré, Marie Sarazin, Isabelle Le Ber, Stéphane Epelbaum, Thérèse Jonveaux, Olivier Rouaud, Mathieu Ceccaldi, Olivier Félician, Olivier Godefroy, Maïté Formaglio, Bernard Croisile, Sophie Auriacombe, Ludivine Chamard, Jean‐Louis Vincent, Mathilde Sauvée, Cécilia Marelli, Audrey Gabelle, Canan Özsancak, Jérémie Pariente, Claire Paquet, Didier Hannequin, Dominique Campion

    منشور في 2017
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  6. 6
    Primary brain calcification: an international study reporting novel variants and associated phenotypes

    Primary brain calcification: an international study reporting novel variants and associated phenotypes حسب Eliana Marisa Ramos, Miryam Carecchio, Roberta R. Lemos, Joana Ferreira, Andrea Legati, Renee Sears, Sandy Hsu, Celeste Panteghini, Luca Magistrelli, Ettore Salsano, Silvia Esposito, Franco Taroni, Anne‐Claire Richard, Christine Tranchant, Mathieu Anheim, Xavier Ayrignac, Cyril Goizet, Marie Vidailhet, David Maltête, David Wallon, Thierry Frébourg, Lylyan Fragoso Pimentel, Daniel H. Geschwind, Olivier Vanakker, Douglas Galasko, Brent L. Fogel, A. Micheil Innes, Alison Ross, William B. Dobyns, Diana Alcantara, Mark O’Driscoll, Didier Hannequin, Dominique Campion, João Ricardo Mendes de Oliveira, Barbara Garavaglia, Giovanni Coppola, Gaël Nicolas

    منشور في 2018
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  7. 7
    Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

    Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons حسب Gaël Nicolas, David Wallon, Camille Charbonnier, Olivier Quenez, Stéphane Rousseau, Anne‐Claire Richard, Anne Rovelet‐Lecrux, Sophie Coutant, Kilan Le Guennec, Delphine Bacq, Jean-Guillaume Garnier, Robert Olaso, Anne Boland, Vincent Meyer, Jean‐François Deleuze, Hans Markus Münter, Guillaume Bourque, Daniel Auld, Alexandre Montpetit, Mark Lathrop, Lucie Guyant‐Maréchal, Olivier Martinaud, Jérémie Pariente, Adeline Rollin‐Sillaire, Florence Pasquier, Isabelle Le Ber, Marie Sarazin, Bernard Croisile, Claire Boutoleau‐Bretonnière, Catherine Thomas-Antérion, Claire Paquet, Mathilde Sauvée, Olivier Moreaud, Audrey Gabelle, François Sellal, Mathieu Ceccaldi, Ludivine Chamard, Fréderic Blanc, Thierry Frébourg, Dominique Campion, Didier Hannequin

    منشور في 2015
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  8. 8
    Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export حسب Andrea Legati, Donatella Giovannini, Gaël Nicolas, Uriel López-Sánchez, Beatriz Quintáns, João Ricardo Mendes de Oliveira, Renee Sears, Eliana Marisa Ramos, Elizabeth Spiteri, María-Jesús Sobrido, Ángel Carracedo, Cristina Castro-Fernández, Stéphanie Cubizolle, Brent L. Fogel, Cyril Goizet, Joanna C. Jen, Suppachok Kirdlarp, Anthony E. Lang, Zosia Miedzybrodzka, Witoon Mitarnun, Martin Paucar, Henry L. Paulson, Jérémie Pariente, Anne-Claire Richard, Naomi Salins, Sheila A Simpson, Pasquale Striano, Per Svenningsson, François Tison, Vivek K. Unni, Olivier Vanakker, Marja W. Wessels, Suppachok Wetchaphanphesat, Michele Yang, François Boller, Dominique Campion, Didier Hannequin, Marc Sitbon, Daniel H. Geschwind, Jean‐Luc Battini, Giovanni Coppola

    منشور في 2015
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  9. 9
    Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

    Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype حسب Lou Grangeon, David Wallon, Camille Charbonnier, Olivier Quenez, Anne‐Claire Richard, Stéphane Rousseau, Clara Budowski, Thibaud Lebouvier, Anne-Gaëlle Corbillé, Marie Vidailhet, Aurélie Méneret, Emmanuel Roze, Mathieu Anheim, Christine Tranchant, Pascal Favrole, Jean‐Christophe Antoine, Luc Defebvre, Xavier Ayrignac, Pierre Labauge, Jérémie Pariente, Michel Clanet, David Maltête, Anne Rovelet‐Lecrux, Anne Boland, Jean‐François Deleuze, Pascal Favrole, Christophe Verny, Pierre Krystkowiak, Ludivine Chamard, Sébastien Moutton, Cyril Goizet, Claude Férec, Serge Timsit, S. Schaeffer, Nathalie Derache, Gilles Defer, Franck Durif, François Sellal, Olivier Rouaud, Christel Thauvin‐Robinet, Stéphanie Cubizolle, Mathilde Sauvée, Amélie Leblanc, Alexis Demas, Alice Poisson, Elisabeth Tournier‐Lasserve, Dominique Hervé, Hugues Chabriat, Guillaume Grolez, Nicolas Carrière, Luc Defebvre, Thibaud Lebouvier, Tatiana Witjas, Jean‐Philippe Azulay, Frédérique Fluchère, Mira Didic, Karine Nguyen, Mahmoud Charif, Xavier Ayrignac, Pierre Labauge, C. Lionnet, Cécilia Marelli, Simon Gaud, Tiphaine Rouaud, Brice Laurens, Emmanuelle Folgoas, Bertrand Isidor, Jean Chiésa, Maud Pallix-Guyot, Nicolas Gaillard, Nadège Olivier, Snejana Jurici, Isabelle Marey, Perrine Charles, Claire Ewenczyck, Alexandra Dürr, Cécile Hubsch, Aurélie Méneret, Marie Vidailhet, Yann Nadjar, Isabelle Le Ber, David Grabli, Emmanuel Roze, Vincent Navarro, Sylvie Mecharles-Darrigol, Julien Lagarde, Marie Sarazin, Marc Vérin, Romain Lefaucheur, David Maltête, David Wallon, Didier Hannequin, Olivier Martinaud, Lucie Guyant‐Maréchal, Gaël Nicolas, Thierry Frébourg, Anne‐Claire Richard, Dominique Campion, Olivier Guillin, Marion Yger

    منشور في 2019
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  10. 10
    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications حسب Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcová, David Murphy, Anne‐Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stéphanie Efthymiou, Lucía Schottlaender, Heba Morsy, Annarita Scardamaglia, Gerome Breen, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten Brønstad, Sandrine Tury, Andrés Moreno-De-Luca, Anne Boland, Robert Olaso, Jean‐François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Al-Ajlan, Firdous Abdulwahab, Jean‐Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Güngör, Semra Hız Kurul, Hanns Lochmüller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas Wood, Rita Horváth, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, Thomas Arnesen, Henry Houlden

    منشور في 2024
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  11. 11
    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders حسب Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne‐Claire Richard, Alexandra Afenjar, Séverine Audebert‐Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie‐Noëlle Bonnet‐Dupeyron, Elise Brischoux‐Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier‐Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean‐François Deleuze, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Anne Dieux, Christèle Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Geneviève, Brigitte Gilbert‐Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne‐Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Stanislas Lyonnet, Godeliève Morel, Nolwenn Jean‐Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Véronique Pingault, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quēlin, Sylvia Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Élise Schaefer, Sophie Rondeau, Pascale Saugier‐Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frédéric Tran Mau‐Them, Aurélien Trimouille, Julien Van‐Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier

    منشور في 2023
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  12. 12
    <i>ABCA7</i> rare variants and Alzheimer disease risk

    <i>ABCA7</i> rare variants and Alzheimer disease risk حسب Kilan Le Guennec, Gaël Nicolas, Olivier Quenez, Camille Charbonnier, David Wallon, Céline Bellenguez, Benjamin Grenier‐Boley, Stéphane Rousseau, Anne‐Claire Richard, Anne Rovelet‐Lecrux, Delphine Bacq, Jean-Guillaume Garnier, Robert Olaso, Anne Boland, Vincent Meyer, Jean‐François Deleuze, Philippe Amouyel, Hans Markus Münter, Guillaume Bourque, Mark Lathrop, Thierry Frébourg, Richard Redon, Luc Letenneur, Jean‐François Dartigues, Florence Pasquier, Adeline Rollin‐Sillaire, Emmanuelle Génin, Jean‐Charles Lambert, Didier Hannequin, Dominique Campion, Didier Hannequin, Dominique Campion, David Wallon, Olivier Martinaud, Gaël Nicolas, Adeline Rollin‐Sillaire, Stéphanie Bombois, Marie‐Anne Mackowiak, Vincent Deramecourt, Florence Pasquier, Agnès Michon, Isabelle Le Ber, Bruno Dubois, Charles Duyckaerts, Olivier Godefroy, Frédérique Etcharry‐Bouyx, Valérie Chauviré, Ludivine Chamard, Eric Berger, Éloi Magnin, Jean‐François Dartigues, Sophie Auriacombe, François Tison, Cyril Goizet, Vincent de la Sayette, Fausto Viader, Dominique Castan, Elsa Dionet, François Sellal, Olivier Rouaud, Christel Thauvin, Olivier Moreaud, Mathilde Sauvée, Maïté Formaglio, Hélène Mollion, Isabelle Roullet-Solignac, Alain Vighetto, Bernard Croisile, Mira Didic, Olivier Félician, Lejla Koric, Mathieu Ceccaldi, Audrey Gabelle, Cecilia Marelli, Jacques Touchon, Pierre Labauge, Thérèse Jonveaux, Martine Vercelletto, Claire Boutoleau‐Bretonnière, Giovanni Castelnovo, D.L. Renaud, Philippe Robert, Claire Paquet, Julien Dumurgier, Jacques Hugon, Foucauld De Boisgueheneuc, Serge Belliard, Serge Bakchine, Marie Sarazin, Marie‐Odile Barrellon, Bernard Laurent, Fréderic Blanc, Christine Tranchant, Jérémie Pariente, Michèle Puel, Caroline Hommet, Karl Mondon

    منشور في 2016
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  13. 13
    Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening

    Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening حسب Gaël Nicolas, Aline Zaréa, Morgane Lacour, Olivier Quenez, Stéphane Rousseau, Anne‐Claire Richard, Antoine Bonnevalle, Catherine Schramm, Robert Olaso, Florian Sandron, Anne Boland, Jean‐François Deleuze, Daniela Andriuta, Pierre Anthony, Sophie Auriacombe, Anna‐Chloé Balageas, Guillaume Ballan, Mélanie Barbay, Yannick Béjot, Serge Belliard, Marie Bénaiteau, Karim Bennys, Stéphanie Bombois, Claire Boutoleau‐Bretonnière, Pierre Branger, Jasmine Carlier, Leslie Cartz‐Piver, Pascaline Cassagnaud, Mathieu-Pierre Ceccaldi, Valérie Chauviré, Yaohua Chen, Julien Cogez, Emmanuel Cognat, Fabienne Contégal-Callier, Léa Corneille, Philippe Couratier, Benjamin Cretin, C. Crinquette, Benjamin Dauriat, Sophie Dautricourt, Vincent de La Sayette, Astrid De Liège, Didier Deffond, Florence Démurger, Vincent Deramecourt, Céline Derollez, Elsa Dionet, Martine Doco Fenzy, Julien Dumurgier, Anaïs Dutray, Frédérique Etcharry‐Bouyx, Maïté Formaglio, Audrey Gabelle, Anne Gainche-Salmon, Olivier Godefroy, Mathilde Graber, Chloé Gregoire, Stéphan Grimaldi, Julien Guéniat, Claude Guériot, Virginie Guillet‐Pichon, Sophie Haffen, Cezara-Roxana Hanta, Clémence Hardy, Geoffroy Hautecloque, Camille Heitz, Claire Hourrègue, Thérèse Jonveaux, Snejana Jurici, Lejla Koric, Pierre Krolak‐Salmon, Julien Lagarde, Hélène-Marie Lanoiselée, Brice Laurens, Isabelle Le Ber, Gwenaël Le Guyader, Amélie Leblanc, Thibaud Lebouvier, Richard A. Levy, Anaïs Lippi, Marie‐Anne Mackowiak, Éloi Magnin, Cécilia Marelli, Olivier Martinaud, Aurélien Maureille, Raffaella Migliaccio, Emilie Milongo-Rigal, Sophie Mohr, Hélène Mollion, Alexandre Morin, Julia Nivelle, Camille Noiray, Pauline Olivieri, Claire Paquet, Jérémie Pariente, Florence Pasquier, Alexandre Perron, Nathalie Philippi, Vincent Planche, Hélène Pouclet‐Courtemanche

    منشور في 2024
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  14. 14
    Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

    Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease حسب Henne Holstege, Marc Hulsman, Camille Charbonnier, Benjamin Grenier‐Boley, Olivier Quenez, Detelina Grozeva, Jeroen van Rooij, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Penny J. Norsworthy, Oriol Dols‐Icardo, Holger Hummerich, Amit Kawalia, Philippe Amouyel, Gary W. Beecham, Claudine Berr, Joshua C. Bis, Anne Boland, Paola Bossù, Femke H. Bouwman, José Brás, Dominique Campion, J. Nicholas Cochran, Antonio Daniele, Jean‐François Dartigues, Stéphanie Debette, Jean-François Deleuze, Nicola Denning, Anita L. DeStefano, Lindsay A. Farrer, María Victoria Fernández, Nick C. Fox, Daniela Galimberti, Emmanuelle Génin, Gilles Thomas, Yann Le Guen, Rita Guerreiro, Jonathan L. Haines, Clive Holmes, M. Arfan Ikram, M. Kamran Ikram, Iris E. Jansen, Robert Kraaij, M Lathrop, Afina W. Lemstra, Alberto Lleó, Lauren Luckcuck, Marcel M.A.M. Mannens, Iain Marshall, Eden R. Martin, Carlo Masullo, Richard Mayeux, Patrizia Mecocci, Alun Meggy, Merel O. Mol, Kevin Morgan, R Myers, Benedetta Nacmias, Adam C. Naj, Valerio Napolioni, Florence Pasquier, Pau Pástor, Margaret A. Pericak‐Vance, Rachel Raybould, Richard Redon, Marcel J. T. Reinders, Anne‐Claire Richard, Steffi G. Riedel‐Heller, Fernando Rivadeneira, Stéphane Rousseau, Natalie S. Ryan, Salha Saad, Pascual Sánchez‐Juan, Gerard D. Schellenberg, Philip Scheltens, Jonathan M. Schott, Davide Seripa, Sudha Seshadri, Daoud Sie, Erik A. Sistermans, Sandro Sorbi, Resie van Spaendonk, Gianfranco Spalletta, Niccoló Tesi, Betty M. Tijms, André G. Uitterlinden, Sven J. van der Lee, Pieter Jelle Visser, Michael Wagner, David Wallon, Li-San Wang, Aline Zaréa, Jordi Clarimón, John C. van Swieten, Michael D. Greicius, Jennifer S. Yokoyama, Carlos Cruchaga, John Hardy, Alfredo Ramı́rez

    منشور في 2022
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