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Quoted phrase not found in phrase index: "Aicardi-Goutieres syndrome 4"
Page 1
Genetic interferonopathies: An overview.
Eleftheriou D, Brogan PA. Eleftheriou D, et al. Best Pract Res Clin Rheumatol. 2017 Aug;31(4):441-459. doi: 10.1016/j.berh.2017.12.002. Epub 2018 Feb 1. Best Pract Res Clin Rheumatol. 2017. PMID: 29773266 Review.
Epilepsy in Aicardi-Goutieres syndrome.
Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Innes MA, Walkenhorst H, Bevot A, von Stülpnagel C, Thomas K, Niemann F, Ergun MA, Tacke U, Häusler M, Ikonomidou C, Korinthenberg R, Lee-Kirsch MA. Ramantani G, et al. Eur J Paediatr Neurol. 2014 Jan;18(1):30-7. doi: 10.1016/j.ejpn.2013.07.005. Epub 2013 Sep 5. Eur J Paediatr Neurol. 2014. PMID: 24011626
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is a genetically determined early-onset encephalopathy with variable phenotype, including neurologic manifestations such as dystonia, spasticity, epileptic seizures, progressive microcephaly, and severe development …
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is a genetically determined early-onset encephalopathy with variable pheno …
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutieres Syndrome.
Takanohashi A, Alameh MG, Woidill S, Hacker J, Davis B, Helman G, Gavazzi F, Adang L, D'Aiello R, Winters P, Cordova D, Khandaker T, Ni H, Tam Y, Lin P, Weissman D, Shults J, Vanderver A. Takanohashi A, et al. Mol Genet Metab. 2022 Dec;137(4):320-327. doi: 10.1016/j.ymgme.2022.10.001. Epub 2022 Oct 10. Mol Genet Metab. 2022. PMID: 36334423 Free PMC article.
Aicardi Goutieres Syndrome (AGS) is an autoinflammatory disorder resulting in sustained interferon activation through defects in nucleic acid modification and sensing pathways. ...
Aicardi Goutieres Syndrome (AGS) is an autoinflammatory disorder resulting in sustained interferon activation through d …
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutieres Syndrome.
Cusack SV, Gavazzi F, de Barcelos IP, Modesti NB, Woidill S, Formanowski B, DeMauro SB, Lorch S, Vincent A, Jawad AF, Estilow T, Glanzman AM, Vanderver A, Adang LA. Cusack SV, et al. J Child Neurol. 2024 Mar;39(3-4):147-154. doi: 10.1177/08830738241241786. Epub 2024 Mar 27. J Child Neurol. 2024. PMID: 38532733 Free PMC article.
Aicardi-Goutieres syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. ...We hypothesize that there is a spectrum of fine and visual motor skills in the Aicardi-Goutieres syndrome population as captur …
Aicardi-Goutieres syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. ...We hypo …
Biomarkers of inflammatory and auto-immune central nervous system disorders.
Dale RC, Brilot F. Dale RC, et al. Curr Opin Pediatr. 2010 Dec;22(6):718-25. doi: 10.1097/MOP.0b013e3283402b71. Curr Opin Pediatr. 2010. PMID: 20871402 Review.
In addition, we will review new advances in the immunogenetic investigation of familial auto-inflammatory disorders such as Aicardi-Goutieres syndrome and Chronic Infantile Neurologic Cutaneous Articular syndrome. Finally, we will review the clinical utility …
In addition, we will review new advances in the immunogenetic investigation of familial auto-inflammatory disorders such as Aicardi- …
TREX1 variants in Sjogren's syndrome related lymphomagenesis.
Nezos A, Makri P, Gandolfo S, De Vita S, Voulgarelis M, Crow MK, Mavragani CP. Nezos A, et al. Cytokine. 2020 Aug;132:154781. doi: 10.1016/j.cyto.2019.154781. Epub 2019 Jul 18. Cytokine. 2020. PMID: 31326279
Genetic variants of the three-prime repair exonuclease 1 (TREX1) -an exonuclease involved in DNA repair and degradation- have been previously found to increase susceptibility to Aicardi Goutieres syndrome, familial chilblain lupus and systemic lupus erythemat …
Genetic variants of the three-prime repair exonuclease 1 (TREX1) -an exonuclease involved in DNA repair and degradation- have been previousl …
Aicardi-Goutieres syndrome with emphasis on sonographic features in infancy.
Rossler L, Ludwig-Seibold C, Thiels Ch, Schaper J. Rossler L, et al. Pediatr Radiol. 2012 Aug;42(8):932-40. doi: 10.1007/s00247-012-2384-4. Epub 2012 May 26. Pediatr Radiol. 2012. PMID: 22639057
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is a severe familial, mostly autosomal recessive encephalopathy, first described in 1984. ...MATERIALS AND METHODS: Four male infants with AGS, two brothers, underwent imaging between the ages of 4 weeks and …
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is a severe familial, mostly autosomal recessive encephalopathy, first des …
Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS).
Kanazawa N, Ishii T, Takita Y, Nishikawa A, Nishikomori R. Kanazawa N, et al. Pediatr Rheumatol Online J. 2023 Apr 22;21(1):38. doi: 10.1186/s12969-023-00817-8. Pediatr Rheumatol Online J. 2023. PMID: 37087470 Free PMC article. Clinical Trial.
BACKGROUND: This study evaluated the efficacy and safety of baricitinib (Janus kinase-1/2 inhibitor), in adult and pediatric Japanese patients with Nakajo-Nishimura syndrome/chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (NNS/CANDLE), stimula …
BACKGROUND: This study evaluated the efficacy and safety of baricitinib (Janus kinase-1/2 inhibitor), in adult and pediatric Japanese patien …
Aicardi goutieres syndrome is associated with pulmonary hypertension.
Adang LA, Frank DB, Gilani A, Takanohashi A, Ulrick N, Collins A, Cross Z, Galambos C, Helman G, Kanaan U, Keller S, Simon D, Sherbini O, Hanna BD, Vanderver AL. Adang LA, et al. Mol Genet Metab. 2018 Dec;125(4):351-358. doi: 10.1016/j.ymgme.2018.09.004. Epub 2018 Sep 7. Mol Genet Metab. 2018. PMID: 30219631 Free PMC article.
While pulmonary hypertension (PH) is a potentially life threatening complication of many inflammatory conditions, an association between Aicardi Goutieres syndrome (AGS), a rare genetic cause of interferon (IFN) overproduction, and the development of PH has n …
While pulmonary hypertension (PH) is a potentially life threatening complication of many inflammatory conditions, an association between …
Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutieres syndrome.
Leung ML, Woodhull W, Uggenti C, Schord S, Mato RP, Rodriguez DP, Ream M, Crow YJ, Mori M. Leung ML, et al. Eur J Med Genet. 2023 Apr;66(4):104731. doi: 10.1016/j.ejmg.2023.104731. Epub 2023 Feb 11. Eur J Med Genet. 2023. PMID: 36775013
Aicardi-Goutieres syndrome (AGS) is a progressive multisystem disorder including encephalopathy with significant impacts on intellectual and physical abilities. ...
Aicardi-Goutieres syndrome (AGS) is a progressive multisystem disorder including encephalopathy with significant impact …
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