TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

por Ekaterina L. Ivanova, Johan G. Gilet, Vadym Sulimenko, Arnaud Duchon, Gabrielle Rudolf, Karen Runge, Stephan C. Collins, Laure Asselin, Loic Broix, Nathalie Drouot, Peggy Tilly, Patrick Nusbaum, Alexandre Vincent, William Magnant, Valerie Skory, Marie-Christine Birling, Guillaume Pavlovic, Juliette D. Godin, Binnaz Yalcin, Yann Hérault, Pavel Dráber, Jamel Chelly, Maria-Victoria Hinckelmann
Publicado 2019

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

por Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A. Bacino, Kristin Baranaño, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin-Robinet, Marjan M. Weiss, Gladys Zapata, Petra J. G. Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin
Publicado 2020