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Nature Communications|March 3, 2026
Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndromeMaxime Batignes, Marine Luka, Surabhi Jagtap, et al.Human Mutation|November 5, 2019
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsGiulia Barcia, Marlène Rio, Zahra Assouline, et al.Epilepsia Open|May 10, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsiesGiulia Barcia, Nicole Chemaly, Stéphanie Gobin-Limballe, et al.Journal of Clinical Immunology|January 24, 2019
Neurological Involvement in Childhood Evans SyndromeThomas Pincez, Bénédicte Neven, Hubert Ducou Le Pointe, et al.Blood|March 25, 2021
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disordersRomain Duval, Gaël Nicolas, Alexandra Willemetz, et al.Frontiers in Pediatrics|March 6, 2020
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' ReportsMarie Hully, Christine Barnerias, Delphine Chabalier, et al.Molecular Genetics and Metabolism|August 5, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute managementCamille Wicker, Charles-Joris Roux, Louise Goujon, et al.The Journal of Pediatrics|May 16, 2022
Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in ChildrenMelodie Aubart, Charles-Joris Roux, Chloé Durrleman, et al.Molecular Genetics and Metabolism|February 11, 2026
A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)Anjana Sevagamoorthy, Francesco Gavazzi, Zarrin Tashnim, et al.European Journal of Medical Genetics|July 21, 2015
From splitting GLUT1 deficiency syndromes to overlapping phenotypesMarie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, et al.Pageof 6