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Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D'Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, Messana T, Moroni I, Nardocci N, Panteghini C, Parazzini C, Pichiecchio A, Pini A, Ricci F, Saletti V, Salvatici E, Santorelli FM, Sartori S, Tinelli F, Uggetti C, Veneselli E, Zorzi G, Garavaglia B, Fazzi E, Orcesi S, Cereda C. Garau J, et al. J Clin Med. 2019 May 26;8(5):750. doi: 10.3390/jcm8050750. J Clin Med. 2019. PMID: 31130681 Free PMC article.
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.
Galli J, Gavazzi F, De Simone M, Giliani S, Garau J, Valente M, Vairo D, Cattalini M, Mortilla M, Andreoli L, Badolato R, Bianchi M, Carabellese N, Cereda C, Ferraro R, Facchetti F, Fredi M, Gualdi G, Lorenzi L, Meini A, Orcesi S, Tincani A, Zanola A, Rice G, Fazzi E; AGS study group. Galli J, et al. Among authors: garau j. Medicine (Baltimore). 2018 Dec;97(52):e13893. doi: 10.1097/MD.0000000000013893. Medicine (Baltimore). 2018. PMID: 30593198 Free PMC article.
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi-Goutières syndrome patients carrying RNASEH2 mutations.
Garau J, Sproviero D, Dragoni F, Piscianz E, Santonicola C, Tonduti D, Carelli S, Tesser A, Zuccotti GV, Tommasini A, Orcesi S, Pansarasa O, Cereda C. Garau J, et al. Cell Mol Immunol. 2021 Jun;18(6):1593-1595. doi: 10.1038/s41423-021-00657-0. Epub 2021 Mar 11. Cell Mol Immunol. 2021. PMID: 33707687 Free PMC article. No abstract available.
Ruxolitinib in Aicardi-Goutières syndrome.
Mura E, Masnada S, Antonello C, Parazzini C, Izzo G, Garau J, Sproviero D, Cereda C, Orcesi S, Veggiotti P, Zuccotti G, Dilillo D, Penagini F, Tonduti D. Mura E, et al. Among authors: garau j. Metab Brain Dis. 2021 Jun;36(5):859-863. doi: 10.1007/s11011-021-00716-5. Epub 2021 Mar 15. Metab Brain Dis. 2021. PMID: 33721182
MINCR: A long non-coding RNA shared between cancer and neurodegeneration.
Pandini C, Garofalo M, Rey F, Garau J, Zucca S, Sproviero D, Bordoni M, Berzero G, Davin A, Poloni TE, Pansarasa O, Carelli S, Gagliardi S, Cereda C. Pandini C, et al. Among authors: garau j. Genomics. 2021 Nov;113(6):4039-4051. doi: 10.1016/j.ygeno.2021.10.008. Epub 2021 Oct 15. Genomics. 2021. PMID: 34662711 Free article.
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.
Dragoni F, Garau J, Orcesi S, Varesio C, Bordoni M, Scarian E, Di Gerlando R, Fazzi E, Battini R, Gjurgjaj A, Rizzo B, Pansarasa O, Gagliardi S. Dragoni F, et al. Among authors: garau j. Front Endocrinol (Lausanne). 2023 Mar 14;14:1152237. doi: 10.3389/fendo.2023.1152237. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36998476 Free PMC article.
Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1.
Al Wardat S, Frassinelli L, Orecchini E, Rey F, Ciafrè SA, Galardi S, Garau J, Gagliardi S, Orcesi S, Tonduti D, Carelli S, Cereda C, Picardi E, Michienzi A. Al Wardat S, et al. Among authors: garau j. Genes Dis. 2023 Jul 13;11(3):101028. doi: 10.1016/j.gendis.2023.05.020. eCollection 2024 May. Genes Dis. 2023. PMID: 38292175 Free PMC article. No abstract available.
257 results