Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Christelle M Durand"'
Autor:
Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I Carina Gillberg, Gudrun A Rappold, Richard Holt, Anthony P Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J Schmeisser, Tobias M Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W Scherer, Guy A Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron
Publikováno v:
PLoS Genetics, Vol 10, Iss 9, p e1004580 (2014)
SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of
Externí odkaz:
https://doaj.org/article/baff5fce8b7e495e86bb1abb116c6895
Autor:
Christelle M. Durand, Chloé Angelini, Vincent Michaud, Claire Delleci, Isabelle Coupry, Cyril Goizet, Aurelien Trimouille
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background VPS13D is a large ubiquitin-binding protein playing an essential role in mitophagy by regulating mitochondrial fission. Recently, VPS13D biallelic pathogenic variants have been reported in patients displaying variable neurological
Externí odkaz:
https://doaj.org/article/278aa308874d43398a0d4a027302f992
Autor:
Nicolas H. Piguel, Sabine Fievre, Jean-Michel Blanc, Mario Carta, Maïté M. Moreau, Enora Moutin, Vera L. Pinheiro, Chantal Medina, Jerome Ezan, Léa Lasvaux, François Loll, Christelle M. Durand, Kai Chang, Ronald S. Petralia, Robert J. Wenthold, F. Anne Stephenson, Laurent Vuillard, Hervé Darbon, Julie Perroy, Christophe Mulle, Mireille Montcouquiol, Claudia Racca, Nathalie Sans
Publikováno v:
Cell Reports, Vol 9, Iss 2, Pp 712-727 (2014)
The appropriate trafficking of glutamate receptors to synapses is crucial for basic synaptic function and synaptic plasticity. It is now accepted that NMDA receptors (NMDARs) internalize and are recycled at the plasma membrane but also exchange betwe
Externí odkaz:
https://doaj.org/article/8f27d3fd857744fca1150bb04ae3b89b
Autor:
Xavier Jeunemaitre, Christophe Orssaud, Mathilde Renaud, Clarisse Billon, Lucia Ziccardi, Claire Pujol, Nicolas Villain, Christophe Duranton, Cyril Mignot, Ana Berta Sousa, Carlo Casali, Claire Ewenczyk, Nicolas Pietrancosta, Jean-Luc Boucher, Cecilia Marelli, Alexandra Durr, Juliette Albuisson, Marguerite Hureaux, Isabelle Rubera, Anne Legrand, Cyril Goizet, Stéphane Zuily, Giovanni Stevanin, Aurélie Mesnil, Christelle M Durand, Salma Adham
Publikováno v:
Journal of Internal Medicine
Journal of Internal Medicine, Wiley, 2020, ⟨10.1111/joim.13193⟩
Journal of Internal Medicine, 2020, ⟨10.1111/joim.13193⟩
Journal of Internal Medicine, Wiley, 2020, ⟨10.1111/joim.13193⟩
Journal of Internal Medicine, 2020, ⟨10.1111/joim.13193⟩
Purpose Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients remain genetically unsolved despite extensive genetic screening of ABC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d75dba746f3f2ab1e3be43c54257050b
http://hdl.handle.net/20.500.12278/113321
http://hdl.handle.net/20.500.12278/113321
Autor:
Rodrigue Rossignol, Isabelle Coupry, Michel Koenig, Magalie Barth, Cyril Goizet, Nadège Bellance, Dominique Bonneau, Agnès Guichet, Diana Rodriguez, Christelle M. Durand, Nada Houcinat, Julie Bouron, Sébastien Moutton, Julie Lavie, Sandra Chantot-Bastaraud, Julie Pilliod, Alexandra Durr, Karine Nguyen, Alexis Brice, Didier Hannequin, Giovanni Benard, Mathieu Anheim, Perrine Charles, Christel Thauvin-Robinet, Alexandra Afenjar, Elise Maurat, Guillaume Fromager, Patrick Berquin, Didier Lacombe, Caroline Rooryck, Dan Milea, Sylvie Forlani, Philippe Convers, Elisabeth Maillart, Christophe Verny, Stéphanie Valence, Julien Van-Gils, Fanny Mochel, Christophe Hubert, Giovanni Stevanin, Lucie Guyant-Maréchal, Lydie Burglen, Gaetan Lesca
Publikováno v:
Annals of Neurology. 78:871-886
Objective Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is caused by mutations in the SACS gene. SACS encodes sacsin, a protein whose function remains unknown, despite the description of numerous protein domains and the recent
Autor:
François Rivier, Alexandra Durr, Nicolas Pietrancosta, Guja Astrea, Laetitia Fouillen, Cyril Goizet, Giovanni Stevanin, Patrick J. Babin, Claire Pujol, Khalid H. El-Hachimi, Jean-Luc Boucher, Stéphanie Jacqueré, Isabelle Coupry, Filippo M. Santorelli, Giovanni Benard, Daniel Mansuy, Guillaume Banneau, Alessandra Tessa, Christelle M Durand, Laura Dhers, Laure Raymond, Frédéric Darios, Didier Lacombe, Christelle Tesson
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2018, 39 (1), pp.140-151. ⟨10.1002/humu.23359⟩
Human Mutation, Wiley, 2018, 39 (1), pp.140-151. ⟨10.1002/humu.23359⟩
International audience; Hereditary spastic paraplegia (HSP) is an inherited disorder of the central nervous system mainly characterized by gradual spasticity and weakness of the lower limbs. SPG56 is a rare autosomal recessive early onset complicated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcaf5cf4ad05aa1f73a203477b1ce953
http://hdl.handle.net/20.500.12278/111725
http://hdl.handle.net/20.500.12278/111725
Autor:
Guillaume Huguet, Gudrun Nygren, Ralf Jockers, Maria Råstam, Jonas Melke, Marina Konyukh, Roberto Toro, Jean-Marie Launay, Hany Goubran Botros, I. Carina Gillberg, Henrik Anckarsäter, Christopher Gillberg, Jean-Luc Guillaume, Fabien Fauchereau, Nathalie Clement, Thomas Bourgeron, Richard Delorme, Isabelle Scheid, Marion Leboyer, Pauline Chaste, Claire S. Leblond, Nathalie Lemière, Lydia Boudarene, Cécile Pagan, Emilie Serrano, Ola Ståhlberg, Christelle M. Durand
Publikováno v:
Journal of Pineal Research. 51:394-399
Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration in melatonin signaling has been reported in a broad range of diseases, but little is known about the genetic variability of this pathway in humans. Her
Autor:
Nathalie Sans, D. Nora Abrous, Muriel Koehl, Nicolas H. Piguel, François Loll, Christelle M. Durand, Claudia Racca, Maria E. Rubio, Stéphane H. R. Oliet, Maïté M. Moreau, Claire Mazzocco, Mireille Montcouquiol, Thomas Papouin, Elodie Richard
Publikováno v:
Journal of Neuroscience
Journal of Neuroscience, Society for Neuroscience, 2010, 30 (29), pp.9738-9752. ⟨10.1523/JNEUROSCI.6007-09.2010⟩
Journal of Neuroscience, Society for Neuroscience, 2010, 30 (29), pp.9738-9752. ⟨10.1523/JNEUROSCI.6007-09.2010⟩
International audience; Scribble (Scrib) is a key regulator of apicobasal polarity, presynaptic architecture, and short-term synaptic plasticity in Drosophila. In mammals, its homolog Scrib1 has been implicated in cancer, neural tube closure, and pla
Autor:
Christopher Gillberg, Francesca Blasi, Claudio Toma, Mari Rossi, Henrik Anckarsäter, Irma Järvelä, Agatino Battaglia, Maria Råstam, Elena Maestrini, Richard Delorme, Simona Carone, Catalina Betancur, Hany Goubran Botros, Xiaohong Gong, Elena Bacchelli, I. Carina Gillberg, Marie Christine Mouren-Simeoni, Fabien Fauchereau, Pauline Chaste, Marion Leboyer, Christelle M. Durand, Ilona Nummela, Gudrun Nygren, Thomas Bourgeron, Daniel Moreno-De-Luca
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2008, 147B (6), pp.830-5. ⟨10.1002/ajmg.b.30688⟩
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Wiley, 2008, 147B (6), pp.830-5. ⟨10.1002/ajmg.b.30688⟩
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2008, 147B (6), pp.830-5. ⟨10.1002/ajmg.b.30688⟩
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Wiley, 2008, 147B (6), pp.830-5. ⟨10.1002/ajmg.b.30688⟩
International audience; Autism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked s
Autor:
Marie Coutelier, Alexandre Dionne-Laporte, Marion Stoll, Alexandra Durr, Perrine Charles, Isabel Alonso, Maxime Jacoupy, Marion Gaussen, Paula Coutinho, Fanny Mochel, Garth A. Nicholson, Fanny Morice-Picard, Stephan Züchner, Giovanni Stevanin, Juliette Konop, Rebecca Schüle, Chris Ottolenghi, Florence Habarou, José Leal Loureiro, Cyril Goizet, Raphaël Matusiak, Alexis Brice, Maxime Janin, S. Sara Morais, Christel Depienne, Guy A. Rouleau, Marina L. Kennerson, Frédéric Darios, Mathilde Mairey, Chantal M. E. Tallaksen, Jean-Marie Saudubray, Feifei Tao, Christelle M. Durand, Patrick Calvas
Publikováno v:
Brain 138(8), 2191-2205 (2015). doi:10.1093/brain/awv143
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2015, 138 (8), pp.2191-2205. ⟨10.1093/brain/awv143⟩
Brain-A Journal of Neurology, 2015, 138 (8), pp.2191-2205. ⟨10.1093/brain/awv143⟩
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2015, 138 (8), pp.2191-2205. ⟨10.1093/brain/awv143⟩
Brain-A Journal of Neurology, 2015, 138 (8), pp.2191-2205. ⟨10.1093/brain/awv143⟩
International audience; Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited pyramidal involvement also occurs in patients wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65824196cff904a241c2d95a0e9d0d03
https://pub.dzne.de/record/138089
https://pub.dzne.de/record/138089