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Neuropediatrics|November 29, 2019
Biallelic Mutations in MTPAP Associated with a Lethal EncephalopathyLien Van Eyck, Francesco Bruni, Anne Ronan, et al.Pediatric Research|June 11, 2026
Type I interferon signature does not correlate with disease activity in Blau syndromeBenjamin Fournier, Héloïse Reumaux, Isabelle Melki, et al.Arthritis Research & Therapy|June 16, 2019
Type I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profilesJohn A Reynolds, Tracy A Briggs, Gillian I Rice, et al.Journal of Clinical Immunology|February 8, 2023
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2Gaofeng Zhu, Mihaly Badonyi, Lina Franklin, et al.Neuropediatrics|September 23, 2014
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegiaYanick J Crow, Maha S Zaki, Mohamed S Abdel-Hamid, et al.Annals of the Rheumatic Diseases|June 8, 2014
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodiesEloy Cuadrado, Adeline Vanderver, Kristy J Brown, et al.Arthritis & Rheumatology (Hoboken, N.J.)|July 9, 2016
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus ErythematosusJie An, Tracy A Briggs, Audrey Dumax-Vorzet, et al.European Journal of Immunology|May 26, 2025
Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon SignallingNic Robertson, Aakash Joshi, Francesca Ritchie, et al.Developmental Medicine and Child Neurology|July 27, 2010
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasisVenkateswaran Ramesh, Bruno Bernardi, Altin Stafa, et al.The Journal of Clinical Investigation|November 18, 2014
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestationsNadia Jeremiah, Bénédicte Neven, Matteo Gentili, et al.Pageof 10