Carolina Uggenti
0000-0003-2673-5120
Publication & Citation Trends
Publications
41 total
Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy
Cited by 0
Semantic Scholar
Baricitinib Treatment in RNU7-1-Associated Aicardi–Goutières Syndrome in a South African Child: A Case Report
Cited by 3
Semantic Scholar
ATRX Deficiency Drives Aberrant Type I Interferon Signalling Through cGAS-Dependent Transcriptional Dysregulation
Cited by 1
Semantic Scholar
Autoinflammatory encephalopathy due to PTP1B haploinsufficiency: a case series
Cited by 5
Semantic Scholar
MDA5 gain-of-function associated with a Glu794del mutation OA
Cited by 1
Semantic Scholar
Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome. OA
Cited by 0
Semantic Scholar
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement OA
Cited by 19
Semantic Scholar
Mutations in <i>COPA</i> lead to abnormal trafficking of STING to the Golgi and interferon signaling PDF
Cited by 211
OpenAlex
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing PDF
Cited by 191
OpenAlex
Biallelic mutations in NRROS cause an early onset lethal microgliopathy OA
Cited by 22
Semantic Scholar
Research Topics
interferon and immune responses
(17)
RNA regulation and disease
(10)
Inflammasome and immune disorders
(7)
RNA Research and Splicing
(5)
RNA modifications and cancer
(5)
Affiliations
Délégation Paris 5
Hôpital Necker-Enfants Malades
Inserm
Université Paris Cité
Manchester Academic Health Science Centre