Team: Translational research in neurogenetic diseases (NRGEN) Hospital staff |
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants Manon Degoutin, Chloé Angelini, Claire Bar, Wahiba Amer El Khedoud, Christine Barnerias, Razika Boulariah‐Hadjou, Mehrdad A. Estiar, Claire Ewenczyk, Ziv Gan‐Or, Didier Lacombe, Claire Lefeuvre, Purvi Majethia, Mouna Messaoud‐Khelifi, Dhanya Lakshmi Narayanan, Guy A. Rouleau, Oksana Suchowersky, Anju Shukla, Marine Guillaud‐Bataille, Giovanni Stevanin, Cyril Goizet Euro J of Neurology. 2024-12-27 10.1111/ene.70025
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models Laetitia Dard, Christophe Hubert, Pauline Esteves, Wendy Blanchard, Ghina Bou About, Lyla Baldasseroni, Elodie Dumon, Chloe Angelini, Mégane Delourme, Véronique Guyonnet-Dupérat, Stéphane Claverol, Laura Fontenille, Karima Kissa, Pierre-Emmanuel Séguéla, Jean-Benoît Thambo, Lévy Nicolas, Yann Herault, Nadège Bellance, Nivea Dias Amoedo, Frédérique Magdinier, Tania Sorg, Didier Lacombe, Rodrigue Rossignol Journal of Clinical Investigation. 2022-04-15 10.1172/JCI131053