Результаты поиска - Christophe Verny
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Language processing within the striatum: evidence from a PET correlation study in Huntington's disease по Marc Teichmann, Véronique Gaura, Jean‐François Démonet, Frédéric Supiot, Marie Delliaux, Christophe Verny, P. Renou, Philippe Rémy, Anne‐Catherine Bachoud‐Lévi
Опубликовано 2008Artigo -
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Improved Locus-Specific Database for<i>OPA1</i>Mutations Allows Inclusion of Advanced Clinical Data по Marc Ferré, Angélique Caignard, Dan Miléa, Stéphanie Leruez, Julien Cassereau, Arnaud Chevrollier, Patrizia Amati‐Bonneau, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Pascal Reynier
Опубликовано 2014Artigo -
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Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration по Claire Angebault, Naïg Guéguen, Valérie Desquiret‐Dumas, Arnaud Chevrollier, Virginie Guillet, Christophe Verny, Julien Cassereau, Marc Ferré, Dan Miléa, Patrizia Amati‐Bonneau, Dominique Bonneau, Vincent Procaccio, Pascal Reynier, Dominique Loiseau
Опубликовано 2011Artigo -
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In vivo evidence for the selective subcortical degeneration in Huntington's disease по Gwenaëlle Douaud, Timothy E.J. Behrens, Cyril Poupon, Yann Cointepas, Saâd Jbabdi, Véronique Gaura, Narly Golestani, Pierre Krystkowiak, Christophe Verny, Philippe Damier, Anne‐Catherine Bachoud‐Lévi, Philippe Hantraye, Philippe Rémy
Опубликовано 2009Artigo -
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Phenotype associated with APP duplication in five families по L. Cabrejo, Lucie Guyant‐Maréchal, A. Laquérrière, Martine Vercelletto, F. De La Fournière, C. Thomas-Antérion, Christophe Verny, Franck Letournel, Florence Pasquier, Anne Vital, Frédéric Checler, Thierry Frébourg, Dominique Campion, Didier Hannequin
Опубликовано 2006Artigo -
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Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel<i>OPA1</i>mutations по Marc Ferré, Dominique Bonneau, Dan Miléa, Arnaud Chevrollier, Christophe Verny, Hélène Dollfus, Carmen Ayuso, Sabine Defoort, Catherine Vignal, Xavier Zanlonghi, Jean-François Charlin, Josseline Kaplan, Sylvie Odent, Christian P. Hamel, Vincent Procaccio, Pascal Reynier, Patrizia Amati‐Bonneau
Опубликовано 2009Artigo -
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International Guidelines for the Treatment of Huntington's Disease по Anne‐Catherine Bachoud‐Lévi, Joaquim J. Ferreira, Renaud Massart, Katia Youssov, Anne Rosser, Monica Busse, David Craufurd, Ralf Reilmann, Giuseppe De Michele, D. O. Rae, Ferdinando Squitieri, Klaus Seppi, Perrine Charles, Clarisse Scherer‐Gagou, Audrey Olivier, Christophe Verny, Jean-Marc Burgunder
Опубликовано 2019Artigo -
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OPA1 R445H mutation in optic atrophy associated with sensorineural deafness по Patrizia Amati‐Bonneau, Agnès Guichet, Aurélien Olichon, Arnaud Chevrollier, Frédérique Viala, Stéphanie Miot, Carmen Ayuso, Sylvie Odent, Catherine Arrouet, Christophe Verny, M. Calmels, Gilles Simard, Pascale Belenguer, Jing Wang, Jean‐Luc Puel, Christian Hamel, Yves Malthièry, Dominique Bonneau, Guy Lenaers, Pascal Reynier
Опубликовано 2005Artigo -
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases по Pekes Codjia, Xavier Ayrignac, Fanny Mochel, Kévin Mouzat, Clarisse Carra‐Dallière, Giovanni Castelnovo, Emmanuel Ellie, Frédérique Etcharry‐Bouyx, Christophe Verny, Serge Belliard, Didier Hannequin, Cécilia Marelli, Yann Nadjar, Isabelle Le Ber, Imen Dorboz, Simon Samaan, Odile Boespflug‐Tanguy, Serge Lumbroso, Pierre Labauge
Опубликовано 2018Artigo -
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A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency по Stéphanie Leruez, Alexandre Marill, Thomas Bresson, Grégoire de Saint Martin, Adrien Buisset, Jeanne Muller, Lydie Tessier, Cédric Gadras, Christophe Verny, Philippe Gohier, Patrizia Amati‐Bonneau, Guy Lenaers, Dominique Bonneau, Gilles Simard, Dan Miléa, Vincent Procaccio, Pascal Reynier, Juan Manuel Chao de la Barca
Опубликовано 2018Artigo -
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Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial по Giulia Coarelli, Anna Heinzmann, Claire Ewenczyk, Clara Fischer, Marie Chupin, Marie‐Lorraine Monin, Hortense Hurmic, Fabienne Calvas, Patrick Calvas, Cyril Goizet, Stéphane Thobois, Mathieu Anheim, Karine Nguyen, David Devos, Christophe Verny, Vito A. G. Ricigliano, Jean‐François Mangin, Alexis Brice, Sophie Tézenas du Montcel, Alexandra Dürr
Опубликовано 2022Artigo -
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The metabolomic signature of Leber’s hereditary optic neuropathy reveals endoplasmic reticulum stress по Juan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati‐Bonneau, Zainab Safiedeen, Delphine Prunier‐Mirebeau, Stéphanie Chupin, Cédric Gadras, Lydie Tessier, Naïg Guéguen, Arnaud Chevrollier, Valérie Desquiret‐Dumas, Marc Ferré, Céline Bris, Judith Kouassi Nzoughet, Cinzia Bocca, Stéphanie Leruez, Christophe Verny, Dan Miléa, Dominique Bonneau, Guy Lenaers, María Carmen Martínez, Vincent Procaccio, Pascal Reynier
Опубликовано 2016Artigo -
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OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes по Patrizia Amati‐Bonneau, Maria Lucia Valentino, Pascal Reynier, M. Esther Gallardo, Belén Bornstein, Anne Boissière, Yolanda Campos, Horacio Rivera, Jesús González de la Aleja, Rosanna Carroccia, Luisa Iommarini, Pierre Labauge, D. Figarella-Branger, P. Marcorelles, A. Furby, Katell Beauvais, Franck Letournel, Rocco Liguori, Chiara La Morgia, P. Montagna, Maria Liguori, Claudia Zanna, Michela Rugolo, Andrea Cossarizza, Bernd Wissinger, Christophe Verny, Robert Schwarzenbacher, Miguel A. Martı́n, Joaquı́n Arenas, Carmen Ayuso, Rafael Garesse, Guy Lenaers, Dominique Bonneau, Valério Carelli
Опубликовано 2007Artigo -
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Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia по Jean‐Loup Méreaux, Guillaume Banneau, Mélanie Papin, Giulia Coarelli, Rémi Valter, Laure Raymond, Bophara Kol, Olivier Ariste, Livia Parodi, Laurène Tissier, Mathilde Mairey, Samia Ait Said, Celia Gautier, Marine Guillaud-Bataille, Mathieu Anheim, Jean‐Philippe Azulay, Odile Boesfplug-Tanguy, Perrine Charles, Alexandra Dürr, Cyril Goizet, Didier Hannequin, Vincent Huin, Michel Kœnig, Pierre Labauge, Eric Leguern, Karine Nguyen, Mathilde Renaud, Diana Rodriguez, Christophe Verny, Sylvie Forlani, Pierre de la Grange, Alexis Brice, Giovanni Vazza, Alexandra Dürr, Eric Leguern, Giovanni Stévanin
Опубликовано 2021Artigo -
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Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification по Gaël Nicolas, Cyril Pottier, Camille Charbonnier, Lucie Guyant‐Maréchal, Isabelle Le Ber, Jérémie Pariente, Pierre Labauge, Xavier Ayrignac, Luc Defebvre, David Maltête, Olivier Martinaud, Romain Lefaucheur, Olivier Guillin, David Wallon, Boris Chaumette, Philippe Rondepierre, Nathalie Derache, Guillaume Fromager, S. Schaeffer, Pierre Krystkowiak, Christophe Verny, Snejana Jurici, Mathilde Sauvée, Marc Vérin, Thibaud Lebouvier, Olivier Rouaud, Christel Thauvin‐Robinet, Stéphane Rousseau, Anne Rovelet‐Lecrux, Thierry Frébourg, Dominique Campion, Didier Hannequin, Patrick Ahtoy, Mathieu Anheim, Jérôme Augustin, Xavier Ayrignac, Françoise Billé-Turc, Dominique Campion, Boris Chaumette, Michel Clanet, Luc Defebvre, Gilles Defer, Nathalie Derache, Mira Didic, Franck Durif, Emmanuel Flamand‐Roze, Guillaume Fromager, Maurice Giroud, Alice Goldenberg, Olivier Guillin, Lucie Guyant‐Maréchal, Didier Hannequin, Cécile Hubsch, Snejana Jurici, Pierre Krystkowiak, Pierre Labauge, Antoine Layet, Isabelle Le Ber, Thibaud Lebouvier, Romain Lefaucheur, David Maltête, Olivier Martinaud Donald Morcamp, Gaël Nicolas, Özlem Özkul, Jérémie Pariente, Cyril Pottier, Philippe Rondepierre, Olivier Rouaud, B Salle, Mathilde Sauvée, S. Schaeffer, Christel Thauvin‐Robinet, Catherine Thomas-Antérion, Christine Tranchant, Aude Triquenot, Yvan Vaschalde, Marc Vérin, Christophe Verny, Marie Vidailhet, David Wallon
Опубликовано 2013Artigo -
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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands по Aude Rocatcher, Valérie Desquiret‐Dumas, Majida Charif, Marc Ferré, Philippe Gohier, Delphine Mirebeau‐Prunier, Christophe Verny, Dan Miléa, Guy Lenaers, Catherine Vignal, Cédric Lamirel, Rabih Hage, Hélène Dollfus, Isabelle Meunier, Xavier Zanlonghi, Valérie Touitou, Pierre Lebranchu, Sylvie Odent, Caroline Froment Tilikete, L. Jeanjean, Sabine Defoort‐Dhellemmes, Isabelle Drumare-Bouvet, Vasily Smirnov, Catherine Vincent-Delorme, Damien Biotti, Fanny Varenne, Patrick Calvas, Nicolas Chassaing, Mikaël Cohen, Christophe Orssaud, Fanny Mochel, Agathe Roubertie, Annick Toutain, Frédéric Pollet-Villard, Marie Noelle Bonnet Dupeyron, Céline Boulicot, Béatrice Cochener, Alice Goldenberg, Marie Line Jacquemont, Christine Francannet, Dominique Bonneau, Pascal Reynier, Patrizia Amati‐Bonneau
Опубликовано 2022Artigo -
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Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients по Xavier Ayrignac, Clarisse Carra‐Dallière, Nicolas Menjot de Champfleur, Christian Denier, Patrick Aubourg, Céline Bellesme, Giovanni Castelnovo, Jean Pelletier, Bertrand Audoin, Elsa Kaphan, de Sèze, Nicolas Collongues, F. Blanc, Jean‐Baptiste Chanson, Éloi Magnin, Ėric Berger, Sandra Vukusic, Françoise Durand‐Dubief, Jean‐Philippe Camdessanché, Mikaël Cohen, Christine Lebrun‐Frénay, David Brassat, Michel Clanet, Patrick Vermersch, Hélène Zephir, Olivier Outteryck, Sandrine Wiertlewski, David Laplaud, Jean‐Christophe Ouallet, Bruno Brochet, Cyril Goizet, Marc Debouverie, Sophie Pittion, Gilles Edan, V. Deburghgraeve, Emmanuelle Le Page, Christophe Verny, Patrizia Amati‐Bonneau, Dominique Bonneau, Didier Hannequin, Lucie Guyant‐Maréchal, Nathalie Derache, Gilles Defer, Thibault Moreau, M Giroud, Anne Marie Guennoc, Pierre Clavelou, Frédérique Taithe, Stéphane Mathis, Jean‐Philippe Neau, Laurent Magy, J.-L. Devoize, Marc Bataillard, Julien Masliah‐Planchon, Imen Dorboz, Elisabeth Tournier‐Lasserve, Thierry Levade, Odile Boespflug‐Tanguy, Pierre Labauge
Опубликовано 2014Artigo -
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Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype по 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
Опубликовано 2019Artigo -
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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment по Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cécilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine Van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stévanin, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Alexandra Durr, Giovanni Stévanin, Alexis Brice, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Perrine Charles, Charles Duyckaerts, Bertrand Fontaine, Jean‐Philippe Azulay, Odile Boesfplug-Tanguy, Cyril Goizet, Didier Hannequin, Jamïlé Hazan, Andrea Burgo, Christophe Verny, M. Kœnig, Pierre Labauge, Cécilia Marelli, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Mériem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha S. Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Mégarbané, Ali Benomar, Berry Kremer, Willeke M. C. van Roon‐Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir Kostić, Idoia Rouco Axpe, Liena E. O. Elsayed, Martin Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Suran Nethisinghe, Thomas T. Warner, Nicholas Wood
Опубликовано 2020Artigo
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Связанные темы
Medicine
Biology
Genetics
Pathology
Gene
Neuroscience
Disease
Phenotype
Bioinformatics
Internal medicine
Mutation
Optic nerve
Optic neuropathy
Psychology
Anatomy
Ataxia
Atrophy
Audiology
Basal ganglia
Central nervous system
Huntington's disease
Leber's hereditary optic neuropathy
Magnetic resonance imaging
Mitochondrion
Ophthalmology
Psychiatry
Radiology
White matter
Alternative medicine
Cognition