Works matching DE "AICARDI-Goutieres syndrome"
Results: 75
Aicardi- Goutières syndrome: a model disease for systemic autoimmunity.
- Published in:
- Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 17, doi. 10.1111/cei.12160
- By:
- Publication type:
- Article
Mouse models for Aicardi- Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity.
- Published in:
- Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 9, doi. 10.1111/cei.12147
- By:
- Publication type:
- Article
Therapies in Aicardi- Goutières syndrome.
- Published in:
- Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 1, doi. 10.1111/cei.12115
- By:
- Publication type:
- Article
Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 7, p. 612, doi. 10.1111/dmcn.12359
- By:
- Publication type:
- Article
Teriflunomide attenuates neuroinflammation-related neural damage in mice carrying human PLP1 mutations.
- Published in:
- 2018
- By:
- Publication type:
- journal article
ADAR RNA editing in human disease; more to it than meets the I.
- Published in:
- Human Genetics, 2017, v. 136, n. 9, p. 1265, doi. 10.1007/s00439-017-1837-0
- By:
- Publication type:
- Article
Early onset, cold-induced lupus erythematosus panniculitis.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
RNase H2 Loss in Murine Astrocytes Results in Cellular Defects Reminiscent of Nucleic Acid- Mediated Autoinflammation.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00587
- By:
- Publication type:
- Article
Aicardi‐Goutières syndrome: cold‐induced acral blemish is not always cryoglobulinaemic vasculitis or chilblain lupus.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Recurrent chilblains in a child with neurological impairment.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Microglial Interferon Signaling and White Matter.
- Published in:
- Neurochemical Research, 2017, v. 42, n. 9, p. 2625, doi. 10.1007/s11064-017-2307-8
- By:
- Publication type:
- Article
RNASEH2B pathogenic mutation presenting with pure, Apparently Non-Progressive hereditary spastic paraparesis.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Different clinical manifestations of three prime repair exonuclease 1 mutation: A case series.
- Published in:
- Annals of Indian Academy of Neurology, 2020, v. 23, n. 5, p. 699, doi. 10.4103/aian.AIAN_469_18
- By:
- Publication type:
- Article
Recurrent Encephalopathy with Spinal Cord Involvement: An Atypical Manifestation of Aicardi-Goutières Syndrome.
- Published in:
- Annals of Indian Academy of Neurology, 2019, v. 22, n. 1, p. 111, doi. 10.4103/aian.AIAN_12_18
- By:
- Publication type:
- Article
Erratum.
- Published in:
- 2013
- Publication type:
- Erratum
Magnetoencephalography Reveals a Unique Neurophysiological Profile of Focal-Onset Epileptic Spasms.
- Published in:
- Tohoku Journal of Experimental Medicine, 2013, v. 229, n. 2, p. 147, doi. 10.1620/tjem.229.147
- By:
- Publication type:
- Article
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
- Published in:
- JAMA Network Open, 2020, v. 3, n. 1, p. e1920356, doi. 10.1001/jamanetworkopen.2019.20356
- By:
- Publication type:
- Article
Astrocytes, an active player in Aicardi–Goutières syndrome.
- Published in:
- Brain Pathology, 2018, v. 28, n. 3, p. 399, doi. 10.1111/bpa.12600
- By:
- Publication type:
- Article
Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development.
- Published in:
- Fetal & Pediatric Pathology, 2018, v. 37, n. 1, p. 15, doi. 10.1080/15513815.2017.1388456
- By:
- Publication type:
- Article
Molecular dynamics characterization of the SAMHD1 Aicardi-Goutières Arg145Gln mutant: structural determinants for the impaired tetramerization.
- Published in:
- Journal of Computer-Aided Molecular Design, 2018, v. 32, n. 5, p. 623, doi. 10.1007/s10822-018-0115-0
- By:
- Publication type:
- Article
The eukaryotic elongation factor eEF1A1 interacts with SAMHD1.
- Published in:
- Biochemical Journal, 2015, v. 466, n. 1, p. 69, doi. 10.1042/BJ20140203
- By:
- Publication type:
- Article
Error in Reported Baricitinib Dose in the Article by Meesilpavikkai et al (Arthritis Rheumatol, May 2019).
- Published in:
- 2020
- Publication type:
- Correction Notice
Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi‐Goutières Syndrome, a Type I Interferonopathy.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Inhibition of Cyclic GMP‐AMP Synthase Using a Novel Antimalarial Drug Derivative in Trex1‐Deficient Mice.
- Published in:
- Arthritis & Rheumatology, 2018, v. 70, n. 11, p. 1807, doi. 10.1002/art.40559
- By:
- Publication type:
- Article
Cochlear impairment and autoimmune ear disorder in a patient with breast cancer.
- Published in:
- Audiology Research, 2017, v. 7, n. 1, p. 23, doi. 10.4081/audiores.2017.165
- By:
- Publication type:
- Article
Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi–Goutières syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Atypical phenotype? The answer's in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency.
- Published in:
- Rheumatology, 2021, v. 60, n. 7, p. e240, doi. 10.1093/rheumatology/keab051
- By:
- Publication type:
- Article
Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.
- Published in:
- American Journal of Case Reports, 2018, v. 19, p. 500, doi. 10.12659/AJCR.908036
- By:
- Publication type:
- Article
Aicardi–Goutières syndrome: Brief case report.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 88, doi. 10.4103/JPN.JPN_67_17
- By:
- Publication type:
- Article
Synaptopathies: synaptic dysfunction in neurological disorders - A review written by students for students, and a story of success for ISN schools.
- Published in:
- 2016
- By:
- Publication type:
- Editorial
Aicardi-Goutières syndrome and the type I interferonopathies.
- Published in:
- Nature Reviews Immunology, 2015, v. 15, n. 7, p. 429, doi. 10.1038/nri3850
- By:
- Publication type:
- Article
CTLA4Ig Improves Murine iTreg Induction via TGF and Suppressor Function .
- Published in:
- 2018
- By:
- Publication type:
- journal article
A nationwide survey of Aicardi–Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
- Published in:
- Rheumatology, 2014, v. 53, n. 3, p. 448, doi. 10.1093/rheumatology/ket372
- By:
- Publication type:
- Article
Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 5, p. 473, doi. 10.1111/cge.12471
- By:
- Publication type:
- Article
Early-Onset Aicardi-Goutières Syndrome.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 10, p. 1343, doi. 10.1177/0883073814562252
- By:
- Publication type:
- Article
A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.
- Published in:
- Acta Neuropathologica, 2017, v. 134, n. 6, p. 905, doi. 10.1007/s00401-017-1774-y
- By:
- Publication type:
- Article
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation.
- Published in:
- Asian Journal of Neurosurgery, 2017, v. 12, n. 3, p. 541, doi. 10.4103/1793-5482.145162
- By:
- Publication type:
- Article
A novel <italic>IFIH1</italic> mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient.
- Published in:
- British Journal of Dermatology, 2018, v. 178, n. 2, p. e111, doi. 10.1111/bjd.15869
- By:
- Publication type:
- Article
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
- Published in:
- British Journal of Dermatology, 2015, v. 173, n. 6, p. 1505, doi. 10.1111/bjd.14073
- By:
- Publication type:
- Article
Chilblain lesions associated with inherited autoimmune disease.
- Published in:
- British Journal of Dermatology, 2015, v. 173, n. 6, p. 1369, doi. 10.1111/bjd.14210
- By:
- Publication type:
- Article
Sources of Pathogenic Nucleic Acids in Systemic Lupus Erythematosus.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01028
- By:
- Publication type:
- Article
Type I Interferonopathies in Childhood.
- Published in:
- Balkan Medical Journal, 2023, v. 40, n. 3, p. 165, doi. 10.4274/balkanmedj.galenos.2023.2023-4-78
- By:
- Publication type:
- Article
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome.
- Published in:
- Balkan Medical Journal, 2013, v. 30, n. 3, p. 321, doi. 10.5152/balkanmedj.2013.6960
- By:
- Publication type:
- Article
SAMHD1: mechanisms of regulation and viral evasion.
- Published in:
- Virologie, 2018, v. 22, n. 4, p. E29, doi. 10.1684/vir.2018.0741
- By:
- Publication type:
- Article
SAMHD1 MUTATIONS ARE ALSO RESPONSIBLE FOR AICARDI-GOUTIÈRES IN THE CREE POPULATION.
- Published in:
- 2017
- By:
- Publication type:
- Letter to the Editor
Aicardi‐Goutières syndrome with muscle involvement in early infancy.
- Published in:
- Neuropathology & Applied Neurobiology, 2018, v. 44, n. 7, p. 737, doi. 10.1111/nan.12454
- By:
- Publication type:
- Article
A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2.
- Published in:
- Journal of Reproduction & Infertility, 2022, n. 2, p. 135, doi. 10.18502/jri.v23i2.8999
- By:
- Publication type:
- Article
Type I interferonopathies in pediatric rheumatology.
- Published in:
- Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0094-4
- By:
- Publication type:
- Article
Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 7, p. 693, doi. 10.1007/s10875-016-0325-y
- By:
- Publication type:
- Article