Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals

by Jimmy Massenet, Cyril Gitiaux, Mélanie Magnan, Sylvain Cuvellier, Arnaud Hubas, Patrick Nusbaum, F Jeffrey Dilworth, Isabelle Desguerre, Bénédicte Chazaud
Published 2020-07-01

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

by Asmaa Mamoune, Michel Bahuau, Yamina Hamel, Valérie Serre, Michele Pelosi, Florence Habarou, Marie-Ange Nguyen Morel, Bertrand Boisson, Sabrina Vergnaud, Mai Thao Viou, Luc Nonnenmacher, Monique Piraud, Patrick Nusbaum, Joseph Vamecq, Norma Romero, Chris Ottolenghi, Jean-Laurent Casanova, Pascale de Lonlay
Published 2014-11-01

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

by 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
Published 2019-05-01