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1. Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM,Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G,Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C,Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M,Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C,Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K,Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L,Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, MackayMT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML,Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I,Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L,Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, SolerD, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, teWater Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van CosterRN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E,Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Characterization of human diseasephenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C,SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi:10.1002/ajmg.a.36887.
2. Crow YJ. Aicardi-Goutières Syndrome. 2005 Jun 29 [updated 2016 Nov 22]. In:Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1475/
3. Crow YJ. Aicardi-Goutières syndrome. Handb Clin Neurol. 2013;113:1629-35. doi:10.1016/B978-0-444-59565-2.00031-9. Review.
4. Fazzi E, Cattalini M, Orcesi S, Tincani A, Andreoli L, Balottin U, De SimoneM, Fredi M, Facchetti F, Galli J, Giliani S, Izzotti A, Meini A, Olivieri I,Plebani A. Aicardi-Goutieres syndrome, a rare neurological disease in children: anew autoimmune disorder? Autoimmun Rev. 2013 Feb;12(4):506-9. doi:10.1016/j.autrev.2012.08.012.
5. Goutières F. Aicardi-Goutières syndrome. Brain Dev. 2005 Apr;27(3):201-6.Review.
6. Livingston JH, Crow YJ. Neurologic Phenotypes Associated with Mutations inTREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. Neuropediatrics. 2016 Dec;47(6):355-360.Review.
7. Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W,Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, vonStülpnagel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Häusler M,Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA. Expanding thephenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.Arthritis Rheum. 2010 May;62(5):1469-77. doi: 10.1002/art.27367.
8. Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R,Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, CarrIM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S,Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG,Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC,Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ,Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP,McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR,Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, SinhaGP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, TomlinP, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS,Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM,Orcesi S, Fazzi E, Lebon P, Crow YJ. Clinical and molecular phenotype ofAicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct;81(4):713-25.
9. Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC,Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A,Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC,Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van derKnaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Mutations involved in Aicardi-Goutièressyndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373.
10. 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, SchmidtJL, 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, ZakiMS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ.Assessment of interferon-related biomarkers in Aicardi-Goutières syndromeassociated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, andADAR: a case-control study. Lancet Neurol. 2013 Dec;12(12):1159-69. doi:10.1016/S1474-4422(13)70258-8.
11. Stephenson JB. Aicardi-Goutières syndrome (AGS). Eur J Paediatr Neurol. 2008Sep;12(5):355-8. doi: 10.1016/j.ejpn.2007.11.010.