Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

Por Branchu, Julien, Boutry, Maxime, Sourd, Laura, Depp, Marine, Leone, Céline, Corriger, Alexandrine, Vallucci, Maeva, Esteves, Typhaine, Matusiak, Raphaël, Dumont, Magali, Muriel, Marie-Paule, Santorelli, Filippo M., Brice, Alexis, El Hachimi, Khalid Hamid, Stevanin, Giovanni, Darios, Frédéric
Publicado no Neurobiol Dis (2017)

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Por Baulac, Stéphanie, Lenk, Guy M., Dufresnois, Béatrice, Ouled Amar Bencheikh, Bouchra, Couarch, Philippe, Renard, Julie, Larson, Peter A., Ferguson, Cole J., Noé, Eric, Poirier, Karine, Hubans, Christine, Ferreira, Stéphanie, Guerrini, Renzo, Ouazzani, Reda, El Hachimi, Khalid Hamid, Meisler, Miriam H., Leguern, Eric
Publicado em 2014