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5. Systemic complications of Aicardi Goutières syndrome using real-world data. Peixoto de Barcelos I; Jan AK; Modesti N; Woidill S; Gavazzi F; Isaacs D; D'Aiello R; Sevagamoorthy A; Charlton L; Pizzino A; Schmidt J; van Haren K; Keller S; Eichler F; Emrick LT; Fraser JL; Shults J; Vanderver A; Adang LA Mol Genet Metab; 2024; 143(1-2):108578. PubMed ID: 39332260 [TBL] [Abstract][Full Text] [Related]
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8. Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection. Crow YJ; Livingston JH Dev Med Child Neurol; 2008 Jun; 50(6):410-6. PubMed ID: 18422679 [TBL] [Abstract][Full Text] [Related]
9. Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS). de Barcelos IP; Woidill S; Gavazzi F; Modesti NB; Sevagamoorthy A; Vanderver A; Adang L Mol Genet Metab; 2024 May; 142(1):108346. PubMed ID: 38368708 [TBL] [Abstract][Full Text] [Related]
10. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Rice G; Newman WG; Dean J; Patrick T; Parmar R; Flintoff K; Robins P; Harvey S; Hollis T; O'Hara A; Herrick AL; Bowden AP; Perrino FW; Lindahl T; Barnes DE; Crow YJ Am J Hum Genet; 2007 Apr; 80(4):811-5. PubMed ID: 17357087 [TBL] [Abstract][Full Text] [Related]
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17. 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 J Clin Med; 2019 May; 8(5):. PubMed ID: 31130681 [TBL] [Abstract][Full Text] [Related]
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