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Blau N, Bonafè L, Krägeloh-Mann, et al. Cerebrospinal fluid pterins and folates in Aicardi- Goutieres syndrome. Neurology 2003; 61: 642-647.
 
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Crow YJ, Massey RF, Innes JR, et al. Congenital glaucome and brain stem atrophy as features of Aicardi-Goutières syndrome. Am J Med Genet 2004; 129A:303-307.
 
Abdel-Salam GMH, Zaki MS, Lebon P, Meguid NA. Aicardi-Goutières Syndrome: clinical and neuroradiological findings of 10 new cases. Acta Paediatr 2004; 93: 929-936.
 
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Robertson NJ, Stafler P, Battini R et al. Brain lactic alkalosis in Aicardi-Goutières syndrome. Neuropediatrics 2004; 35 :20-26. 
 
Ramaekers VT, Blau N. Cerebral folate deficiency. Dev Med Child Neurol. 2004 Dec;46(12):843-51.
 
Le Garrec M, Doret M, Pasquier JC, Till M, Lebon P, Buenerd A, Escalon J, Gaucherand P. Prenatal diagnosis of Aicardi-Goutieres syndrome. Prenat Diagn. 2005 Jan;25(1):28-30.
 
Rasmussen M, Skullerud K, Bakke SJ, Lebon P, Jahnsen FL. Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters. Neuropediatrics. 2005 Feb;36(1):40-4.
 
Blanco-Barca MO, Curros Novo MC, Alvarez Moreno A, Alonso Martin A, Eiris-Punal JM, Castro-Gago M. Aicardi-Goutieres syndrome: report of two new cases, An Pediatr (Barc). 2005 Feb;62(2):166-70. Spanish.

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Sanchis A, Cervero L, Bataller A, Tortajada JL, Huguet J, Crow YJ, Ali M, Higuet LJ, Martinez-Frias ML. Genetic syndromes mimic congenital infections. J Pediatr. 2005 May;146(5):701-5.


Lanzi G, Fazzi E, D'Arrigo S, Orcesi S, Maraucci I, Uggetti C, Bertini E, Lebon P.
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Izzotti A., Lanzi G., Fazzi E., Orcesi S., La Piana R., Lebon P. 
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Dimova PS, Mikova O;Case of Aicardi-Goutieres syndrome with long-lasting increase of cerebrospinal interferon-alpha. J Child Neurol. 2005 Nov;20(11):915-9.
 
De Laet C., Goyens P. Christophe C., Ferster A., Mascart F., Dan B:; Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutieres syndrome.
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Desanges C., Lebon P., Bauman C., Vuillard E., Garel C., Cordesse A., Oury JF., Crow Y., Luton D.; Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutieres syndrome.
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Barnerias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Respiratory chain deficiency in a female with Aicardi-Goutieres syndrome. Dev Med Child Neurol. 2006 Mar;48(3):227-30.
 
Kothare SV, Pungavkar SA, Patkar DP, Sainani NI, Naik MH, Gadani S. Regression of white matter hypodensities with age in Aicardi-Goutieres syndrome: a case report. Childs Nerv Syst. 2006 Nov;22(11):1503-6.
 
Castro-Gago M, Gomez-Lado C, Eiris-Punal J. Respiratory chain deficiency in Aicardi-Goutieres syndrome. Dev Med Child Neurol. 2006 Aug;48(8):701.

Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG,
Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet. 2006 Aug;38(8):917-20.


Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J,
Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Dery C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martinez-Frias ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet. 2006 Aug;38(8):910-6.


de Silva U, Choudhury S, Bailey SL, Harvey S, Perrino FW, Hollis T. The Crystal Structure of TREX1 Explains the 3' Nucleotide Specificity and Reveals a Polyproline II Helix for Protein Partnering. J Biol Chem. 2007 Apr 6;282(14):10537-43.

Brucet M, Querol-Audi J, Serra M, Ramirez-Espain X, Bertlik K, Ruiz L, Lloberas J, Macias MJ, Fita I, Celada A. Structure of the dimeric exonuclease TREX1 in complex with DNA displays a proline-rich binding site for WW domains.J Biol Chem. 2007 Mar 13.

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. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Apr;80(4):811-5


Gillian Rice, Teresa Patrick, Rekha Parmar, Claire F Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch,
Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini,  Roberta Biancheri, Edward M. Blair,  Nenad Blau, David T. Bonthron, Tracy Briggs, Louise A. Brueton, Han G. Brunner , Christopher J. Burke, Ian M. Carr, Daniel R. Carvalho, Kate E. Chandler, Hans-Jurgen Christen, Peter C. Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Dery, Colin D. Ferrie, Kim  Flintoff, Suzanna G. M. Frints, Angels Garcia-Cazorla, Blanca Gener, Cyril Goizet, Francoise Goutieres, Andrew J. Green, Agnes Guet, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. Hennekam, Marie Husson, Andrei P. Jackson, Rasiera Jayatunga, Yong Hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen M. Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrei J. Kornberg, Dieter Kotzot, Wilfried Kratzer, Didier Lacombe, Lieven Lagae, Pierre Georges Landrieu, Giovanni Lanzi, Andrea Leitch, Ming J. Lim, John H. Livingston, Charles M. Lourenco, E. G. Hermione Lyall, Sally A.Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melancon, Leena D. Mewasingh, Marie-Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth M. Rosser, Kevin Rostasy, Agathe Roubertie, Amparo Sanchis, Raphael Schiffmann, Sabine Scholl-Burgi, Sunita Seal, Stavit A. Shalev, C. Sierra Corcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John L. Tolmie, Pam Tomlin, Federica Vagnarelli, Enza Maria Valente, Rudy N.A. Van Coster, Nathalie Van der Aa, Adeline Vanderver, Johannes S.H. Vles, Thomas Voit, Evangeline Wassmer, Bernhard Weschke, Margo L. Whiteford,Michel A.A. Willemsen, Andreas Zankl, Sameer M. Zuberi, Simona Orcesi, Elisa Fazzi, Pierre Lebon, and Yanick J. Crow.
Clinical and molecular phenotype of Aicardi-Goutieres Syndrome
Am J Hum. Genet. 2007 Oct.


S. Orcesi, A. Pessagno, R. Biancheri, R. La Piana, M. Mascaretti, A. Rossi. G.I. Rice, Y.J. Crow,
E. Fazzi, E. Veneselli Aicardi-Goutières Syndrome presenting atypically as sub-acute leukoencephalopathy 2007 European Paediatric Neurology Society

Yun-GuiYang, Tomas Lindahl, Deborah E.Barnes Trex1 Exonuclease degrade sssDNA to prevent chronic 
checkpoint activation and autoimmune disease November 30,2007 Elsevier Inc. 873

Mark O’Driscoll TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex 
human genetic disorders accepted February 18,2008 Elsevier Inc. ScienceDirect

John B.P. Stephenson Aicardi-Goutierès Syndrome (AGS) 
accepted November, 11,2007 Elsevier Inc. Official Journal of European Paediatric Neurology Society

P.J. Brooks, Tsu-Fan Cheng, Lori Cooper Do all of the neurologic deseases in patient with DNA repair
gene mutations result from the accumulationof DNA damage ? accepted January 23,2008 Elsevier Inc. ScienceDirect

Jane T. Van Heteren, Flore Rozemberg, Eleonora Aronica, Dirk Troost, Pierre Lebon, Taco Kuijpers 
Astrocytes produce Interferon-Alpha and CXCL10, but not IL-6 or CXCL8, in Aicardi-Goutierès Syndrome GLIA 56:568-578 (2008)

Athanassios Kolivras, Alec Aeby, Yanick J.Crow, Gillian I.Rice ,Ursula Sass and Josette André 
Cutaneous histopathological findings of Aicardi-Goutierès Syndrome,overlap with chilblain lupus Journal of Cutaneous Pathology 2008

A. de la Fuente Juarez, L. Sanchez Pozon, A. Munoz Prades, J. Campistol Plana y R. Porta Ribera 
Aicardi-Goutierès Syndrome An Pediatric (Barc). 2008;68(1):70-82

Y. J.Crow, J.H. Livingston Aicardi-Goutières syndrome: an important Mendelian mimic of congenital 
infection April 14,2008 Dev.Med. Child Neurol.

van Heteren JT, van der Knaap MS, Poll The BW, Kuijpers TW. Plasmacytoid dendritic cells and interferon-alpha in Aicardi-Goutières syndrome. Neuropediatrics. 2007 Dec;38(6):269-75.

Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, Atkinson JP. New roles for the major human 3'-5' exonuclease TREX1 in human disease. Cell Cycle. 2008 Apr 16;7(12).

Izzotti A, Fazzi E, Orcesi S, Cartiglia C, Longobardi M, Capra V, Lebon P, Cama A, Pulliero A, La Piana R, Lanzi G. Interferon-related transcriptome alterations in the cerebro spinal fluid cells in Aicardi-Goutières patients Brain Pathology 2008 Jul 30.

Izzotti A, Fazzi E, Orcesi S, Cartiglia C, Longobardi M, Capra V, Lebon P, Cama A, Pulliero A, 
La Piana R, Lanzi G. Brain damage as detected by cDNA-microarray in the spinal fluid of patients with aicardi-goutieres syndrome. Neurology. 2008 Jul 2. 

S. Orcesi, R. La Piana, and E. Fazzi
Aicardi-Goutières Syndrome - British Medical Bulletin Advance Access published January 7, 2009

Aicardi J, Crow YJ, Stephenson JBP In: Pagon RA, Bird TC, Dolan CR, Stephens K, Aicardi-Goutières Syndrome. editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2005 Jun 29 [updated 2008 Apr 17].

Cerritelli SM, Crouch RJ. FEBS J. Ribonuclease H: the enzymes in eukaryotes. 2009 Mar;276(6):1494-505. Epub 2008 Feb 18. Review.

Krutyakov VM. Biochemistry (Mosc). Properties of autonomous 3'-->5' exonucleases. 2009 Aug;74(8):821-3. Review.

Crow YJ, Rehwinkel J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet. 2009 Oct 15;18(R2):R130-6. Review

Hall D, Rice GI, Akbar N, Meager A, Crow YJ, Lim MJ.
Aicardi-Goutières syndrome presenting with haematemesis in infancy. Acta Paediatr. 2009 Dec;98(12):2005-8.

Prendiville JS, Crow YJ. 
Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-Goutières syndrome and familial chilblain lupus. J Am Acad Dermatol. 2009 Oct;61(4):727-8.

Wassmer E, Singh J, Agrawal S, Santra S, Crow YJ. Elevated pterins in cerebral spinal fluid--biochemical marker of Aicardi-Goutières syndrome. Dev Med Child Neurol. 2009 Oct;51(10):841-2.

Brisman S, Gonzalez M, Morel KD.
Blueberry muffin rash as the presenting sign of Aicardi-Goutières syndrome. Pediatr Dermatol. 2009 Jul-Aug;26(4):432-5.

Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E.
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. AJNR Am J Neuroradiol. 2009 Nov;30(10):1971-6.

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 der Knaap 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-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009 Jul;41(7):829-32. Epub 2009 Jun 14.

Lindahl T, Barnes DE, Yang YG, Robins P. Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease. Biochem Soc Trans. 2009 Jun;37(Pt 3):535-8.

Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME. Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. Am J Med Genet A. 2009 Feb;149A(2):129

Izzotti A, Pulliero A, Orcesi S, Cartiglia C, Longobardi MG, Capra V, Lebon P, Cama A, La Piana R, Lanzi G, Fazzi E. Interferon-related transcriptome alterations in the cerebrospinal fluid cells of Aicardi-Goutières patients. Brain Pathol. 2009 Oct;19(4):650-60. Epub 2008 Oct 23

Ramantani G, Niggemann P, Bast T, Lee-Kirsch MA.
Reconciling Neuroimaging and Clinical Findings in Aicardi-Goutieres Syndrome: An Autoimmune-Mediated Encephalopathy. AJNR Am J Neuroradiol. 2010 Jun 25. 

Reply by Uggetti C and La Piana R.
to Ramantani G, Niggemann P, Bast T, Lee-Kirsch MA. Reconciling Neuroimaging and Clinical Findings in Aicardi-Goutieres Syndrome: An Autoimmune-Mediated Encephalopathy. AJNR Am J Neuroradiol. 2010 Jun 25. 

Abdel-Salam GM, El-Kamah GY, Rice GI, El-Darouti M, Gornall H, Szynkiewicz M, Aymard F, Zaki MS, 
Abdel-Aleem AK, Lebon P, Crow YJ. Chilblains as a diagnostic sign of aicardi-goutières syndrome. Neuropediatrics. 2010 Feb;41(1):18-23.

Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ. Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. Am J Med Genet A. 2010 Apr;152A(4):938-42.

Juern A, Robbins A, Galbraith S, Drolet B. Aicardi-Goutières syndrome: cutaneous, laboratory, and radiologic findings: a case report. Pediatr Dermatol. 2010 Jan 1;27(1):82-5.

Taipa R, Pinto PS, Magalhães M.
Adult-onset dystonia in Aicardi-Goutières syndrome. Mov Disord. 2010 Apr 30;25(6):784-5. 

Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, 
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Shaban NM, Harvey S, Perrino FW, Hollis T.J The structure of the mammalian RNase H2 complex provides insight into RNA.NA hybrid processing to prevent immune dysfunction. Biol Chem. 2010 Feb 5;285(6):3617-24.

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Abe J, Izawa K, Nishikomori R, Awaya T, Kawai T, Yasumi T, Hiragi N, Hiragi T, Ohshima Y, Heike T. Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus, Rheumatology (Oxford). 2013 Feb;52(2):406-8


Vogt J, Agrawal S, Ibrahim Z, Southwood TR, Philip S, Macpherson L, Bhole MV, Crow YJ, Oley C. 
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Han S, Lin YC, Wu T, Salgado AD, Mexhitaj I, Wuest SC, Romm E, Ohayon J, Goldbach-Mansky R, Vanderver A, Marques A, Toro C, Williamson P, Cortese I, Bielekova B. Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases. J Immunol. 2014 Mar 15;192(6):2551-63

Zhang R, Bloch N, Nguyen LA, Kim B, Landau NR. SAMHD1 restricts HIV-1 replication and regulates interferon production in mouse myeloid cells. PLoS One. 2014 Feb 19;9(2)

Fye JM, Coffin SR, Orebaugh CD, Hollis T, Perrino FW. The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers. J Biol Chem. 2014 Apr 18;289(16):11556-65

Nunes RH, Pacheco FT, da Rocha AJ. Magnetic resonance imaging of anterior temporal lobe cysts in children: discriminating special imaging features in a particular group of diseases. Neuroradiology. 2014 Jul;56(7):569-77

Shi L, Zhang Z, Yu AM, Wang W, Wei Z, Akhter E, Maurer K, Costa Reis P, Song L, Petri M, Sullivan KE. The SLE transcriptome exhibits evidence of chronic endotoxin exposure and has widespread dysregulation of non-coding and coding RNAs. PLoS One. 2014 May 5;9(5)

Ablasser A, Hemmerling I, Schmid-Burgk JL, Behrendt R, Roers A, Hornung V. TREX1 deficiency triggers cell-autonomous immunity in a cGAS-dependent manner. J Immunol. 2014 Jun 15;192(12):5993-7

Potenski CJ, Niu H, Sung P, Klein HL. Avoidance of ribonucleotide-induced mutations by RNase H2 and Srs2-Exo1 mechanisms. Nature. 2014 Jul 10;511(7508):251-4

Cuadrado E, Vanderver A, Brown KJ, Sandza A, Takanohashi A, Jansen MH, Anink J, Herron B, Orcesi S, Olivieri I, Rice GI, Aronica E, Lebon P, Crow YJ, Hol EM, Kuijpers TW. Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies. Ann Rheum Dis. 2014 Jun 6

Kind B, Muster B, Staroske W, Herce HD, Sachse R, Rapp A, Schmidt F, Koss S, Cardoso MC, Lee-Kirsch MA. Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome. Hum Mol Genet. 2014 Nov 15;23(22):5950-60

Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y, Thiele H, Nürnberg P, Martin GM, Kubisch C, Oshima J. Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? Am J Med Genet A. 2014 Oct;164A(10):2510-3.

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