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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.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.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.American Journal of Human Genetics|August 30, 2016
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic ApneaStéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, et al.Neurology|August 16, 2020
The clinical, histologic, and genotypic spectrum of <i>SEPN1</i>-related myopathy: A case seriesRocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, et al.Journal of Child Neurology|November 17, 2010
Consensus statement on standard of care for congenital muscular dystrophiesChing H Wang, Carsten G Bonnemann, Anne Rutkowski, et al.Orphanet Journal of Rare Diseases|October 27, 2021
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseasesLucie Isoline Pisella, Sara Fernandes, Guilhem Solé, et al.Journal of Medical Genetics|March 19, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyAbdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.European Heart Journal|March 22, 2021
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry dataRaphaël Porcher, Isabelle Desguerre, Helge Amthor, et al.Brain Communications|July 9, 2021
International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophyRabah Ben Yaou, Pomi Yun, Ivana Dabaj, et al.Pageof 24