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...

Autor Moreno-Corona, Nidia, Chentout, Loïc, Poggi, Lucie, Thouenon, Romane, Masson, Cecile, Parisot, Melanie, Mouel, Lou Le, Picard, Capucine, André, Isabelle, Cavazzana, Marina, Perrin, Laurence, Durandy, Anne, Azarnoush, Saba, Kracker, Sven
Vydáno v Front Pediatr (2021)

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

Autor Heurtier, Lucie, Lamrini, Hicham, Chentout, Loïc, Deau, Marie-Céline, Bouafia, Amine, Rosain, Jérémie, Plaza, Jean-Marc, Parisot, Mélanie, Dumont, Benoit, Turpin, Delphine, Merlin, Etienne, Moshous, Despina, Aladjidi, Nathalie, Neven, Bénédicte, Picard, Capucine, Cavazzana, Marina, Fischer, Alain, Durandy, Anne, Stephan, Jean-Louis, Kracker, Sven
Vydáno v Haematologica (2017)

Loss of ARHGEF1 causes a human primary antibody deficiency

Autor Bouafia, Amine, Lofek, Sébastien, Bruneau, Julie, Chentout, Loïc, Lamrini, Hicham, Trinquand, Amélie, Deau, Marie-Céline, Heurtier, Lucie, Meignin, Véronique, Picard, Capucine, Macintyre, Elizabeth, Alibeu, Olivier, Bras, Marc, Molina, Thierry Jo, Cavazzana, Marina, André-Schmutz, Isabelle, Durandy, Anne, Fischer, Alain, Oksenhendler, Eric, Kracker, Sven
Vydáno v J Clin Invest (2019)

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning

Autor de Calbiac, Hortense, Montealegre, Sebastian, Straube, Marjolène, Renault, Solène, Debruge, Hugo, Chentout, Loïc, Ciura, Sorana, Imbard, Apolline, Guillou, Edouard Le, Marian, Anca, Goudin, Nicolas, Caccavelli, Laure, Fabrega, Sylvie, Hubas, Arnaud, van Endert, Peter, Dupont, Nicolas, Diana, Julien, Kabashi, Edor, de Lonlay, Pascale
Vydáno v Autophagy Rep (2024)