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Molecular Therapy. Methods & Clinical Development|December 28, 2023
Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correctionLucie Poggi, Loïc Chentout, Sabrina Lizot, et al.Frontiers in Pediatrics|July 12, 2021
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K SignalingNidia Moreno-Corona, Loïc Chentout, Lucie Poggi, et al.Autophagy|September 24, 2024
Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apoptosis through autophagy and mitophagy defectsHortense de Calbiac, Solène Renault, Grégoire Haouy, et al.The Journal of Experimental Medicine|March 14, 2023
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiencyRomane Thouenon, Loïc Chentout, Nidia Moreno-Corona, et al.Autophagy Reports|December 26, 2024
TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioningHortense de Calbiac, Sebastian Montealegre, Marjolène Straube, et al.The Journal of Clinical Investigation|December 7, 2018
Loss of ARHGEF1 causes a human primary antibody deficiencyAmine Bouafia, Sébastien Lofek, Julie Bruneau, et al.Science Immunology|January 20, 2023
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency, Oriol Fornes, Alicia Jia, et al.Pageof 1