Detalhe da pesquisa
1.
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.
Nat Immunol;
15(9): 839-45, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25064072
2.
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
J Clin Immunol;
44(2): 60, 2024 Feb 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38324161
3.
Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
Nature;
560(7717): 238-242, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30046113
4.
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.
Am J Hum Genet;
106(5): 694-706, 2020 05 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32359472
5.
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.
J Clin Immunol;
43(4): 808-818, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36753016
6.
Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers.
J Clin Immunol;
43(3): 615-624, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36469191
7.
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
J Clin Immunol;
43(6): 1436-1447, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37171742
8.
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.
J Clin Immunol;
42(5): 962-974, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35320431
9.
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
J Clin Immunol;
42(6): 1310-1320, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35670985
10.
Systemic inflammatory syndrome in children with FARSA deficiency.
Clin Genet;
101(5-6): 552-558, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35132614
11.
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.
J Clin Immunol;
41(3): 603-609, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33411153
12.
Differential levels of IFNα subtypes in autoimmunity and viral infection.
Cytokine;
144: 155533, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33941444
13.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A;
185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33029936
14.
Human intracellular ISG15 prevents interferon-α/ß over-amplification and auto-inflammation.
Nature;
517(7532): 89-93, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25307056
15.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat;
41(4): 837-849, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31898846
16.
Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage.
Thorax;
75(1): 92-95, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31666386
17.
Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.
Rheumatology (Oxford);
59(8): 1927-1937, 2020 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31755959
18.
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
Clin Genet;
98(5): 423-432, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32333401
19.
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Neuropediatrics;
51(3): 178-184, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31779033
20.
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Hum Mutat;
39(8): 1076-1080, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29782060