Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Annie Laquerriere"'
Autor:
Lou Grangeon, Camille Charbonnier, Aline Zarea, Stephane Rousseau, Anne Rovelet-Lecrux, David Bendetowicz, Marion Lemaitre, Cécile Malrain, Muriel Quillard-Muraine, Kevin Cassinari, David Maltete, Jeremie Pariente, Olivier Moreaud, Eloi Magnin, Benjamin Cretin, Marie-Anne Mackowiak, Adeline Rollin Sillaire, Martine Vercelletto, Elsa Dionet, Olivier Felician, Pauline Rod-Olivieri, Catherine Thomas-Antérion, Gaelle Godeneche, Mathilde Sauvée, Leslie Cartz-Piver, Isabelle Le Ber, Valérie Chauvire, Therèse Jonveaux, Anna-Chloé Balageas, Annie Laquerriere, Charles Duyckaerts, Anne Vital, Andre Maues de Paula, David Meyronet, Lucie Guyant-Marechal, Didier Hannequin, Elisabeth Tournier-Lasserve, Dominique Campion, CNR-MAJ collaborators, Gaël Nicolas, David Wallon
Publikováno v:
Alzheimer’s Research & Therapy, Vol 15, Iss 1, Pp 1-12 (2023)
Abstract Background APP duplication is a rare genetic cause of Alzheimer disease and cerebral amyloid angiopathy (CAA). We aimed to evaluate the phenotypes of APP duplications carriers. Methods Clinical, radiological, and neuropathological features o
Externí odkaz:
https://doaj.org/article/88847a664cd34093ae31f3d54233ce99
Autor:
Florent Marguet, Myriam Vezain, Pascale Marcorelles, Séverine Audebert-Bellanger, Kévin Cassinari, Nathalie Drouot, Pascal Chambon, Bruno J. Gonzalez, Arie Horowitz, Annie Laquerriere, Pascale Saugier-Veber
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-7 (2021)
Abstract The prevalence of congenital hydrocephalus has been estimated at 1.1 per 1000 infants when including cases diagnosed before 1 year of age after exclusion of neural tube defects. Classification criteria are based either on CSF dynamics, patho
Externí odkaz:
https://doaj.org/article/a05c3f30da5b41a0a0d5ebe0f0978624
Autor:
Alice Goldenberg, Florent Marguet, Vianney Gilard, Aude-Marie Cardine, Adnan Hassani, François Doz, Sophie Radi, Stéphanie Vasseur, Jacqueline Bou, Maud Branchaud, Claude Houdayer, Stéphanie Baert-Desurmont, Annie Laquerriere, Thierry Frebourg
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-5 (2019)
Abstract The contribution of mosaic alterations to tumors of the nervous system and to non-malignant neurological diseases has been unmasked thanks to the development of Next Generation Sequencing (NGS) technologies. We report here the case of a youn
Externí odkaz:
https://doaj.org/article/549617bf83d446eebad29ee4e57e1dea
Autor:
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson
Publikováno v:
Journal of medical genetics
Journal of Medical Genetics, 60(2), 183-192. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩
Journal of Medical Genetics, 60(2), 183-192. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2021-107971. ⟨10.1136/jmedgenet-2021-107971⟩
BackgroundMalformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants inGRIN1orGRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this stu
Autor:
Camille Maillard, Charles Joris Roux, Fabienne Charbit-Henrion, Julie Steffann, Annie Laquerriere, Floriane Quazza, Nadia Bahi Buisson
Publikováno v:
Seminars in celldevelopmental biology. 137
Mutations causing dysfunction of tubulins and microtubule-associated proteins, also known as tubulinopathies, are a group of recently described entities that lead to complex brain malformations. Anatomical and functional consequences of the disruptio
Autor:
Stefanie, Brock, Annie, Laquerriere, Florent, Marguet, Scott J, Myers, Yuan, Hongjie, Diana, Baralle, Tim, Vanderhasselt, Katrien, Stouffs, Kathelijn, Keymolen, Sukhan, Kim, James, Allen, Gil, Shaulsky, Jamel, Chelly, Pascale, Marcorelle, Jacqueline, Aziza, Laurent, Villard, Elise, Sacaze, Marie C Y, de Wit, Martina, Wilke, Grazia Maria Simonetta, Mancini, Ute, Hehr, Derek, Lim, Sahar, Mansour, Stephen F, Traynelis, Claire, Beneteau, Marie, Denis-Musquer, Anna C, Jansen, Andrew E, Fry, Nadia, Bahi-Buisson
Publikováno v:
Journal of medical genetics.
Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants inWe report the clinical, radiological and molecular features of 7 new patients and review data on 18 previously reported in
Autor:
Dana, Jaber, Cyril, Gitiaux, Sophie, Blesson, Florent, Marguet, David, Buard, Maritzaida, Varela Salgado, Anna, Kaminska, Julien, Saada, Catherine, Fallet-Bianco, Jelena, Martinovic, Annie, Laquerriere, Judith, Melki
Publikováno v:
Journal of Medical Genetics
Background Arthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of
Autor:
Bryan Li, Alexandre Vasiljevic, Christelle Dufour, Ben Ho, Eugene Hwang, Sridharan Gururangan, Jordan Hansford, Annie Laquerriere, Marie-Bernadette Delisle, Jason Fangusaro, Fabien Forest, Nobusawa Sumihito, Helen Toledano, Diane Birks, Xing Fan, Maryam Fouladi, Amar Gajjar, Guillaume Gauchotte, Lindsey Hoffman, Chris Jones, Delphine Loussouarn, Karima Mokhtari, Scott Pomeroy, Audrey Rousseau, Gino Somers, Michael Taylor, David S Ziegler, Mei Lu, Cynthia Hawkins, Richard Grundy, Anne Jouvet, Eric Bouffet, D Ashley Hill, Annie Huang
Publikováno v:
Neuro Oncol
BACKGROUND Pineoblastoma (PB) is a rare but aggressive pediatric brain tumour arising from the pineal gland. Overall survival rates are estimated at 50–70%, with younger patients (< 5 years old) faring much worse (15–40%) despite intensive treatm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::181b42f216b192bdab933f16578be44e
https://europepmc.org/articles/PMC6847702/
https://europepmc.org/articles/PMC6847702/
Autor:
German Reyes-Botero, Caroline Dehais, Ahmed Idbaih, Nadine Martin-Duverneuil, Marion Lahutte, Catherine Carpentier, Eric Letouzé, Olivier Chinot, Hugues Loiseau, Jerome Honnorat, Carole Ramirez, Elisabeth Moyal, Dominique Figarella-Branger, François Ducray, Christine Desenclos, Henri Sevestre, Philippe Menei, Sophie Michalak, Edmond Al Nader, Joel Godard, Gabriel Viennet, Antoine Carpentier, Sandrine Eimer, Phong Dam-Hieu, Isabelle Quintin-Roué, Jean-Sebastien Guillamo, Emmanuelle Lechapt-Zalcman, Jean-Louis Kemeny, Pierre Verrelle, Thierry Faillot, Claude Gaultier, Marie Christine Tortel, Christo Christov, Caroline Le Guerinel, Marie-Hélène Aubriot-Lorton, Francois Ghiringhelli, François Berger, Catherine Lacroix, Fabrice Parker, François Dubois, Claude-Alain Maurage, Edouard-Marcel Gueye, Francois Labrousse, Anne Jouvet, Luc Bauchet, Valérie Rigau, Patrick Beauchesne, Jean-Michel Vignaud, Mario Campone, Delphine Loussouarn, Denys Fontaine, Fanny Vandenbos, Chantal Campello, Pascal Roger, Melanie Fesneau, Anne Heitzmann, Jean-Yves Delattre, Selma Elouadhani, Karima Mokhtari, Marc Polivka, Damien Ricard, Pierre-Marie Levillain, Michel Wager, Philippe Colin, Marie-Danièle Diebold, Dan Chiforeanu, Elodie Vauleon, Olivier Langlois, Annie Laquerriere, Marie Janette Motsuo Fotso, Michel Peoc'h, Marie Andraud, Servane Mouton, Marie-Pierre Chenard, Georges Noel, Nicolas Desse, Raoulin Soulard, Alexandra Amiel-Benouaich, Emmanuelle Uro-Coste, Frederic Dhermain
Publikováno v:
Neuro-Oncology. 16:662-670
BACKGROUND: The aim of this study was to correlate MRI features and molecular characteristics in anaplastic oligodendrogliomas (AOs). METHODS: The MRI characteristics of 50 AO patients enrolled in the French national network for high-grade oligodendr
Autor:
Aude, Tessier, Mélie, Sarreau, Fanny, Pelluard, Gwenaelle, André, Sophie, Blesson, Martine, Bucourt, Pierre, Dechelotte, Laurence, Faivre, Thierry, Frébourg, Alice, Goldenberg, Valérie, Goua, Corinne, Jeanne-Pasquier, Fabien, Guimiot, Annie, Laquerriere, Nicole, Laurent, Mathilde, Lefebvre, Philippe, Loget, Martine, Maréchaud, Charlotte, Mechler, Marie-Josée, Perez, Jean Christophe, Sabourin, Alain, Verloes, Sophie, Patrier, Anne-Marie, Guerrot
Publikováno v:
Prenatal diagnosis. 36(13)
Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported.We analyzed the prenatal and postnatal feta