Resultats de la cerca - Hinckelmann, Maria-Victoria

Huntingtin’s Function in Axonal Transport Is Conserved in Drosophila melanogaster per Zala, Diana, Hinckelmann, Maria-Victoria, Saudou, Frédéric

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Self-propelling vesicles define glycolysis as the minimal energy machinery for neuronal transport per Hinckelmann, María-Victoria, Virlogeux, Amandine, Niehage, Christian, Poujol, Christel, Choquet, Daniel, Hoflack, Bernard, Zala, Diana, Saudou, Frédéric

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Increasing brain palmitoylation rescues behavior and neuropathology in Huntington disease mice per Virlogeux, Amandine, Scaramuzzino, Chiara, Lenoir, Sophie, Carpentier, Rémi, Louessard, Morgane, Genoux, Aurélie, Lino, Patricia, Hinckelmann, Maria-Victoria, Perrier, Anselme L., Humbert, Sandrine, Saudou, Frédéric

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The Arp1/11 minifilament of dynactin primes the endosomal Arp2/3 complex per Fokin, Artem I., David, Violaine, Oguievetskaia, Ksenia, Derivery, Emmanuel, Stone, Caroline E., Cao, Luyan, Rocques, Nathalie, Molinie, Nicolas, Henriot, Véronique, Aumont-Nicaise, Magali, Hinckelmann, Maria-Victoria, Saudou, Frédéric, Le Clainche, Christophe, Carter, Andrew P., Romet-Lemonne, Guillaume, Gautreau, Alexis M.

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Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny per Gilet, Johan G, Ivanova, Ekaterina L, Trofimova, Daria, Rudolf, Gabrielle, Meziane, Hamid, Broix, Loic, Drouot, Nathalie, Courraud, Jeremie, Skory, Valerie, Voulleminot, Paul, Osipenko, Maria, Bahi-Buisson, Nadia, Yalcin, Binnaz, Birling, Marie-Christine, Hinckelmann, Maria-Victoria, Kwok, Benjamin H, Allingham, John S, Chelly, Jamel

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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis per Ivanova, Ekaterina L., Gilet, Johan G., Sulimenko, Vadym, Duchon, Arnaud, Rudolf, Gabrielle, Runge, Karen, Collins, Stephan C., Asselin, Laure, Broix, Loic, Drouot, Nathalie, Tilly, Peggy, Nusbaum, Patrick, Vincent, Alexandre, Magnant, William, Skory, Valerie, Birling, Marie-Christine, Pavlovic, Guillaume, Godin, Juliette D., Yalcin, Binnaz, Hérault, Yann, Dráber, Pavel, Chelly, Jamel, Hinckelmann, Maria-Victoria

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Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development per Ivanova, Ekaterina L., Mau-Them, Frédéric Tran, Riazuddin, Saima, Kahrizi, Kimia, Laugel, Vincent, Schaefer, Elise, de Saint Martin, Anne, Runge, Karen, Iqbal, Zafar, Spitz, Marie-Aude, Laura, Mary, Drouot, Nathalie, Gérard, Bénédicte, Deleuze, Jean-François, de Brouwer, Arjan P.M., Razzaq, Attia, Dollfus, Hélène, Assir, Muhammad Zaman, Nitchké, Patrick, Hinckelmann, Maria-Victoria, Ropers, Hilger, Riazuddin, Sheikh, Najmabadi, Hossein, van Bokhoven, Hans, Chelly, Jamel

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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder per Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie

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Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia per Broix, Loïc, Jagline, Hélène, Ivanova, Ekaterina, Schmucker, Stéphane, Drouot, Nathalie, Clayton-Smith, Jill, Pagnamenta, Alistair T., Metcalfe, Kay.A., Isidor, Bertrand, Louvier, Ulrike Walther, Poduri, Annapurna, Taylor, Jenny C., Tilly, Peggy, Poirier, Karine, Saillour, Yoann, Lebrun, Nicolas, Stemmelen, Tristan, Rudolf, Gabrielle, Muraca, Giuseppe, Saintpierre, Benjamin, Elmorjani, Adrienne, Moïse, Martin, Weirauch, Nathalie Bednarek, Guerrini, Renzo, Boland, Anne, Olaso, Robert, Masson, Cecile, Tripathy, Ratna, Keays, David, Beldjord, Cherif, Nguyen, Laurent, Godin, Juliette, Kini, Usha, Nischké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Sumara, Izabela, Hinckelmann, Maria-Victoria, Chelly, Jamel

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