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The Journal of Experimental Medicine|August 13, 2021
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3AAlice Lepelley, Erika Della Mina, Erika Van Nieuwenhove, et al.Neurology. Genetics|December 12, 2018
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathyNancy Vegas, Mara Cavallin, Camille Maillard, et al.The Journal of Experimental Medicine|April 20, 2017
Detection of interferon alpha protein reveals differential levels and cellular sources in diseaseMathieu P Rodero, Jérémie Decalf, Vincent Bondet, et al.The Journal of Clinical Investigation|January 26, 2021
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humansThuy-Linh Le, Louise Galmiche, Jonathan Levy, et al.Journal of Clinical Immunology|January 7, 2021
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I InterferonopathiesLorenzo Lodi, Isabelle Melki, Vincent Bondet, et al.Journal of Clinical Immunology|May 12, 2023
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach StudyMarie-Louise Frémond, Marie Hully, Benjamin Fournier, et al.Human Mutation|May 4, 2019
Functional classification of ATM variants in ataxia-telangiectasia patientsAlice Fiévet, Dorine Bellanger, Guillaume Rieunier, et al.Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.Neuropediatrics|June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseGillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.Annals of Neurology|July 1, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case SeriesSarah M Brooker, Maria Novelli, Robert Coukos, et al.Pageof 6