Publications

Adult-onset ANCA-associated vasculitis in SAVI: extension of the phenotypic spectrum, case report and review of the literature
29 Sep 2020 in Frontiers in Immunology
DOI: https://doi.org/10.3389/fimmu.2020.575219
Research output: Contribution to Journal › Article (Published)

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling
28 Jul 2020 in Journal of Experimental Medicine, vol. 217
DOI: https://doi.org/10.1084/jem.20200600
Research output: Contribution to Journal › Article (E-pub ahead of print)

Apparent radiological improvement in an infant with Labrune syndrome treated with bevacizumab
25 Jul 2020 in Pediatric Neurology
DOI: https://doi.org/10.1016/j.pediatrneurol.2020.07.011
Research output: Contribution to Journal › Article (E-pub ahead of print)

An Indian child with Coats plus syndrome likely due to mutations in STN1
6 Jul 2020 in American Journal of Medical Genetics
DOI: https://doi.org/10.1002/ajmg.a.61737
Research output: Contribution to Journal › Article (E-pub ahead of print)

Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption
19 Jun 2020 in Schizophrenia Research
DOI: https://doi.org/10.1016/j.schres.2020.05.064
Research output: Contribution to Journal › Article (E-pub ahead of print)

View all 96 publications on Research Explorer

Data last updated: 24/11/2020 at 10:51