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Quoted phrase not found in phrase index: "Aicardi-Goutieres syndrome 7"
Page 1
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Rice GI, et al. Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Lancet Neurol. 2013. PMID: 24183309 Free PMC article.
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). ...FINDINGS: 74 (90%) of 82 patients had a positive interferon score (median 12.90, IQR 6 …
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1 …
Developmental Outcomes of Aicardi Goutieres Syndrome.
Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, Koh J, Kramer-Golinkoff J, De Giorgis V, Orcesi S, Peer K, Ulrick N, Woidill S, Shults J, Vanderver A. Adang L, et al. J Child Neurol. 2020 Jan;35(1):7-16. doi: 10.1177/0883073819870944. Epub 2019 Sep 27. J Child Neurol. 2020. PMID: 31559893 Free PMC article.
Aicardi Goutieres syndrome is a monogenic interferonopathy caused by abnormalities in the intracellular nucleic acid sensing machinery (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or IFIH1). ...Because of this heterogeneity, it is important to fully c …
Aicardi Goutieres syndrome is a monogenic interferonopathy caused by abnormalities in the intracellular nucleic acid se …
Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.
Wang W, Wang W, He TY, Zou LP, Li WD, Yu ZX, Ma MS, Yang J, Song HM. Wang W, et al. World J Pediatr. 2022 Jul;18(7):490-497. doi: 10.1007/s12519-022-00545-1. Epub 2022 May 12. World J Pediatr. 2022. PMID: 35551623 Free PMC article.
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder belonging to the type I interferonopathy group. ...Real-time polymerase chain reaction was used to detect expression of interferon-stimulated genes (ISGs). RESULTS: A total of 23 cases w …
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is an inflammatory disorder belonging to the type I interferonopathy group …
Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.
Thakkar RN, Patel D, Kioutchoukova IP, Al-Bahou R, Reddy P, Foster DT, Lucke-Wold B. Thakkar RN, et al. Med Sci (Basel). 2024 Jan 25;12(1):7. doi: 10.3390/medsci12010007. Med Sci (Basel). 2024. PMID: 38390857 Free PMC article. Review.
The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe's disease, Pelizaeus-Merzbacher disease, Alexander's disease, Canavan disease, and Aicardi-Goutieres Syndrome....
The leukodystrophies discussed in this paper include X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe's disease, Pelizaeu …
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up.
Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E. Uggetti C, et al. AJNR Am J Neuroradiol. 2009 Nov;30(10):1971-6. doi: 10.3174/ajnr.A1694. Epub 2009 Jul 23. AJNR Am J Neuroradiol. 2009. PMID: 19628626 Free PMC article.
BACKGROUND AND PURPOSE: To date, few studies have focused specifically on imaging findings in Aicardi-Goutieres syndrome (AGS). We set out to evaluate retrospectively neuroradiologic data from a large sample of patients with AGS, focusing on the pattern of wh …
BACKGROUND AND PURPOSE: To date, few studies have focused specifically on imaging findings in Aicardi-Goutieres syndrome …
Neonatal detection of Aicardi Goutieres Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A. Armangue T, et al. Mol Genet Metab. 2017 Nov;122(3):134-139. doi: 10.1016/j.ymgme.2017.07.006. Epub 2017 Jul 20. Mol Genet Metab. 2017. PMID: 28739201 Free PMC article.
BACKGROUND: Aicardi Goutieres Syndrome (AGS) is a heritable interferonopathy associated with systemic autoinflammation causing interferon (IFN) elevation, central nervous system calcifications, leukodystrophy and severe neurologic sequelae. ...Fourteen of 19 …
BACKGROUND: Aicardi Goutieres Syndrome (AGS) is a heritable interferonopathy associated with systemic autoinflammation …
Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutieres Syndrome.
Cattalini M, Galli J, Andreoli L, Olivieri I, Ariaudo G, Fredi M; IAGSA study group; Orcesi S, Tincani A, Fazzi E. Cattalini M, et al. J Clin Immunol. 2016 Oct;36(7):693-9. doi: 10.1007/s10875-016-0325-y. Epub 2016 Aug 18. J Clin Immunol. 2016. PMID: 27539236
PURPOSE: The purpose of this study was to explore the presence of autoimmune manifestations and characterize the autoantibody production in a cohort of patients with Aicardi-Goutieres syndrome (AGS). METHODS: Seventeen patients with a genetically-confirmed di …
PURPOSE: The purpose of this study was to explore the presence of autoimmune manifestations and characterize the autoantibody production in …
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB Jr, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL. Lee S, et al. JAMA Netw Open. 2020 Jan 3;3(1):e1920356. doi: 10.1001/jamanetworkopen.2019.20356. JAMA Netw Open. 2020. PMID: 32003821 Free PMC article.
RESULTS: Of 52 301 infants tested (47.8% female, 50.6% male, and 1.7% other or unknown sex), 12 received screen-positive results. Of these 12 infants, 8 were confirmed with a genetic disorder: 3 male infants with X-ALD, 3 X-ALD-heterozygous female infants, 1 female infant …
RESULTS: Of 52 301 infants tested (47.8% female, 50.6% male, and 1.7% other or unknown sex), 12 received screen-positive results. Of …
Cerebrospinal fluid neopterin as a biomarker of treatment response to Janus kinase inhibition in Aicardi-Goutieres syndrome.
Han VX, Mohammad SS, Jones HF, Bandodkar S, Crow YJ, Dale RC; AGS-JAKi Study Group. Han VX, et al. Dev Med Child Neurol. 2022 Feb;64(2):266-271. doi: 10.1111/dmcn.15025. Epub 2021 Aug 20. Dev Med Child Neurol. 2022. PMID: 34415581 Free article.
Janus kinase (JAK) 1 inhibition represents a precision medicine approach in the treatment of Aicardi-Goutieres syndrome (AGS), through targeting of type I interferon-mediated cell signalling. ...Five patients with AGS treated with JAK inhibitors demonstrated …
Janus kinase (JAK) 1 inhibition represents a precision medicine approach in the treatment of Aicardi-Goutieres syndrome …
Magnetic resonance imaging of anterior temporal lobe cysts in children: discriminating special imaging features in a particular group of diseases.
Nunes RH, Pacheco FT, da Rocha AJ. Nunes RH, et al. Neuroradiology. 2014 Jul;56(7):569-77. doi: 10.1007/s00234-014-1356-9. Epub 2014 Apr 23. Neuroradiology. 2014. PMID: 24756164 Review.
Our series included five patients with congenital muscular dystrophy (05/23=21.7 %), six with megalencephalic leukoencephalopathy with subcortical cysts (06/23=26.1 %), three with non-megalencephalic leukoencephalopathy with subcortical cysts (03/23=13.1 %), seven with con …
Our series included five patients with congenital muscular dystrophy (05/23=21.7 %), six with megalencephalic leukoencephalopathy wit …
20 results