Результаты поиска - Anne Rovelet‐Lecrux
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Alzheimer disease: modeling an Aβ-centered biological network по Dominique Campion, Cyril Pottier, Gaël Nicolas, Kilan Le Guennec, Anne Rovelet‐Lecrux
Опубликовано 2016Artigo -
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Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer’s disease по Mitsuru Shinohara, Shinsuke Fujioka, Melissa E. Murray, Aleksandra Wojtas, Matthew Baker, Anne Rovelet‐Lecrux, Rosa Rademakers, Pritam Das, Joseph E. Parisi, Neill R. Graff‐Radford, Ronald C. Petersen, Dennis W. Dickson, Guojun Bu
Опубликовано 2014Artigo -
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A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia по Gaël Nicolas, Agnès Jacquin, Christel Thauvin‐Robinet, Anne Rovelet‐Lecrux, Olivier Rouaud, Cyril Pottier, Marie‐Hélène Aubriot‐Lorton, Stéphane Rousseau, David Wallon, C. Duvillard, Yannick Béjot, Thierry Frébourg, Maurice Giroud, Dominique Campion, Didier Hannequin
Опубликовано 2014Artigo -
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Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing по 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
Опубликовано 2016Artigo -
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A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease по Anne Rovelet‐Lecrux, Solenn Legallic, David Wallon, Jean‐Michel Flaman, Olivier Martinaud, Stéphanie Bombois, Adeline Rollin‐Sillaire, Agnès Michon, Isabelle Le Ber, Jérémie Pariente, Michèle Puel, Claire Paquet, Bernard Croisile, Catherine Thomas-Antérion, Martine Vercelletto, Richard Lévy, Thierry Frébourg, Didier Hannequin, Dominique Campion
Опубликовано 2011Artigo -
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Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members по NiCole A. Finch, Matthew B. Baker, Richard Crook, Kristin R. Swanson, Karen M. Kuntz, R. Surtees, Gina Bisceglio, Anne Rovelet‐Lecrux, Bradley Boeve, Ronald C. Petersen, Dennis W. Dickson, Samuel Younkin, Vincent Deramecourt, Julia E. Crook, Neill R. Graff‐Radford, R. Rademakers
Опубликовано 2009Artigo -
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De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease по Anne Rovelet‐Lecrux, Camille Charbonnier, David Wallon, Gaël Nicolas, Matthew Seaman, Cyril Pottier, Sophia Y. Breusegem, Premendu P. Mathur, Pranitha Jenardhanan, Kilan Le Guennec, Aamir S. Mukadam, Olivier Quenez, Sophie Coutant, Simon Rousseau, A-C Richard, Anne Boland, J.-F. Deleuze, Thierry Frébourg, Didier Hannequin, Dominique Campion
Опубликовано 2015Artigo -
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A Polymorphism in CALHM1 Influences Ca2+ Homeostasis, Aβ Levels, and Alzheimer's Disease Risk по Ute Dreses‐Werringloer, Jean‐Charles Lambert, Valérie Vingtdeux, Haitian Zhao, Horia Vais, Adam P. Siebert, Ankit Jain, Jeremy Koppel, Anne Rovelet‐Lecrux, Didier Hannequin, Florence Pasquier, Daniela Galimberti, Elio Scarpini, David Mann, Corinne Lendon, Dominique Campion, Philippe Amouyel, Peter Davies, J. Kevin Foskett, Fabien Campagne, Philippe Marambaud
Опубликовано 2008Artigo -
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High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease по Cyril Pottier, Didier Hannequin, Sophie Coutant, Anne Rovelet‐Lecrux, David Wallon, Simon Rousseau, Solenn Legallic, Claire Paquet, Stéphanie Bombois, Jérémie Pariente, C. Thomas-Antérion, Agnès Michon, Bernard Croisile, Frédérique Etcharry‐Bouyx, Claudine Berr, Dartigues Jf, Philippe Amouyel, Hélène Dauchel, Claire Boutoleau‐Bretonnière, Christel Thauvin, Thierry Frébourg, Jean‐Charles Lambert, Dominique Campion
Опубликовано 2012Artigo -
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Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation по Olivier Quenez, Kévin Cassinari, Sophie Coutant, François Lecoquierre, Kilan Le Guennec, Stéphane Rousseau, Anne‐Claire Richard, Stéphanie Vasseur, Emilie Bouvignies, Jacqueline Bou, Gwendoline Lienard, Sandrine Manase, Steeve Fourneaux, Nathalie Drouot, Virginie Nguyen-Viet, Myriam Vezain, Pascal Chambon, Géraldine Joly‐Helas, Nathalie Le Meur, Mathieu Castelain, Anne Boland, Jean‐François Deleuze, Isabelle Tournier, Françoise Charbonnier, Edwige Kasper, Gaëlle Bougeard, Thierry Frébourg, Pascale Saugier‐Veber, Stéphanie Baert‐Desurmont, Dominique Campion, Anne Rovelet‐Lecrux, Gaël Nicolas
Опубликовано 2020Artigo -
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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases по 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
Опубликовано 2017Artigo -
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Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons по 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
Опубликовано 2015Artigo -
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Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain по Ivan Alić, Pollyanna Goh, Aoife Murray, Erik Portelius, Eleni Gkanatsiou, Gillian Gough, Kin Y. Mok, David Koschut, Reinhard Brunmeir, Yee Jie Yeap, Niamh L. O’Brien, Jürgen Groet, Xiaowei Shao, Steven Havlicek, N. Ray Dunn, Hlin Kvartsberg, Gunnar Brinkmalm, Rosalyn Hithersay, Carla M. Startin, Sarah Hamburg, Margaret Phillips, Konstantin Pervushin, Mark Turmaine, David Wallon, Anne Rovelet‐Lecrux, Hilkka Soininen, Emanuela V. Volpi, Joanne E. Martin, Jia Nee Foo, David L. Becker, Agueda Rostagno, Jorge Ghiso, Željka Krsnik, Goran Šimić, Ivica Kostović, Dinko Mitrečić, André Strydom, Elizabeth Fisher, Frances K. Wiseman, Dean Nižetić, John Hardy, Victor L. J. Tybulewicz, Annette Karmiloff‐Smith, Paul T. Francis, Kaj Blennow, André Strydom, John Hardy, Henrik Zetterberg, Dean Nižetić
Опубликовано 2020Artigo -
15
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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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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<i>ABCA7</i> rare variants and Alzheimer disease risk по 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
Опубликовано 2016Revisão
Инструменты поиска:
Связанные темы
Biology
Medicine
Genetics
Disease
Alzheimer's disease
Gene
Pathology
Internal medicine
Mutation
Neuroscience
Dementia
Exome sequencing
PSEN1
Phenotype
Amyloid precursor protein
Copy-number variation
Exome
Genome
PDGFRB
Psychology
Calcification
Central nervous system disease
Degenerative disease
Early-onset Alzheimer's disease
Exon
Growth factor
Missense mutation
Nonsense mutation
PDGFB
Platelet-derived growth factor receptor