An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research
Barbara Gnutti, Arcangela Iuso, Chloé Angelini, Dario Finazzi
Brain Sciences. 2025-07-22
10.3390/brainsci15080777

GABRA2‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features
Marie Adamo‐Croux, Chloé Angelini, Jérôme Aupy, Laurent Villard, Nathalie Villeneuve, Arnaud Chefdor, Yorsa Halleb, Maxime Colmard, Manon Degoutin, Gaetan Lesca, Perrine Charles, Boris Keren, Nicole Chemaly, Cyril Goizet, Mathieu Milh, Claire Bar
Epilepsia. 2025-06-18
10.1111/epi.18507

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