Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.
Research square
Authors:
Mansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, Andrea Soltysova, Jakob Schuy, Hafdis T Helgadottir, Jesper Eisfeldt, Marlene Ek, Andrej Ficek, Lotta Druschke, Katarina Kusikova, Tzung-Chien Hsieh, Aron Krichhoff, Peter Krawitz, Jing-Mei Li, Gerald Webersinke, Svetlana Gorokhova, Chantal Missirian, Florence Riccardi, Lisa Pavinato, Alfredo Brusco, Giorgia Mandrile, Slavica Trajkova, Francesco Pintus, Biljana Gagachovska, Quinten Waisfisz, Annet van Hagen, Emma Bedoukian, Kosuke Izumi, Leslie Granger, Andrea Petersen, Renske Oegema, Manon Huibers, Florence Demurger, Elise Brischoux-Boucher, Sophie Julia, Guillaume Banneau, M Jesus Zavala, Catalina Lagos, Gabriela M Repetto, Guillaume Jouret, Catherine Kentros, Mythily Ganapathi, Wendy K Chung, Halie May, Susan M Hiatt, Whitley V Kelley, Alisa Förster, Lisa Olfe, Amelle Shillington, Benjamin Dauriat, Sandra Mercier, Benjamin Cogné, Camille Engel, Eric Dahlen, Georg Rosenberger, Thomas Sauvigny, Hamza Hadj Abdallah, Thomas Courtin, Asbjørg Stray-Pedersen, John A Bernat, Vitoria K Paolillo, Florencia Del Viso, Joseph T Alaimo, Isabelle Thiffault, Emily G Farrow, Ana S A Cohen, Serge Weis, Hans-Christoph Duba, Ann Nordgren, Anna Falk, Denisa Weis, Anna Lindstrand
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Nature communications
Authors:
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Lise Bray, Marielle Oloudé, Cory Rosenfelt, Marie Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas J Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna M Hajdukowicz, Franziska G Thiel, Sophie Wolfgramm, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Yann Verrès, Audrey Dangoumau, Léa Poirier, Ingrid M Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill A Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, Catharina M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam S de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay C Swanson, Carrie Costin, Alali Abdulrazak, Rebekah K Jobling, John Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, May Christine V Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen C Muraresku, Davit Babikyan, Zdeněk Sedláček, Miroslava Hančárová, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Geneviève, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Sabir, Derek Lim, Mark J Hamilton, Lisa J Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna M Cueto-González, Eduardo F Tizzano, David Gómez-Andrés, Marta Codina-Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah J Langas, Anne M McRae, Mathieu K Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Lorraine Potocki, Eric Olinger, Yves Sznajer, Elsa Wiame, Michelle L Thompson, Molly C Schroeder, Catherine Gooch, Raphael A Smith, Arti Pandya, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Clémentine Ripoll, Stéphanie Bigou, Frédéric Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Florence Roux-Dalvai, Ype Elgersma, Julien Marcoux, Marie-Pierre Bousquet, Arnaud Droit, Jeremie Poschmann, Andreas M Grabrucker, Francois V Bolduc, Stéphane Bézieau, Frédéric Ebstein, Elke Krüger
