Aicardi–Goutières syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Aicardi–Goutières syndrome" in English language version.

refsWebsite

Global rank English rank

59nih.gov

4^th place

38doi.org

2^nd place

18semanticscholar.org

11^th place

8^th place

3worldcat.org

5^th place

3harvard.edu

18^th place

17^th place

doi.org

Aicardi J, Goutieres F (1984). "A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis". Ann Neurol. 15 (1): 49–54. doi:10.1002/ana.410150109. PMID 6712192. S2CID 42800185.
Tolmie JL; Shillito P; Hughes-Benzie R; Stephenson JB (1995). "The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)". J Med Genet. 32 (11): 881–884. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332.
Aicardi, J; Goutieres, F (2000). "Systemic lupus erythematosus or Aicardi-Goutieres syndrome?". Neuropediatrics. 31 (3): 113. doi:10.1055/s-2000-7533. PMID 10963096. S2CID 36933780.
Dale RC; Tang SP; Heckmatt JZ; Tatnall FM (2000). "Familial systemic lupus erythematosus and congenital infection-like syndrome". Neuropediatrics. 31 (3): 155–158. doi:10.1055/s-2000-7492. PMID 10963105. S2CID 39793944.
Crow, YJ; Livingston, JH (2008). "Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection". Dev Med Child Neurol. 50 (6): 410–416. doi:10.1111/j.1469-8749.2008.02062.x. PMID 18422679. S2CID 36342200.
Bonnemann, CG; Meinecke, P (1992). "Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis - another case of the Aicardi-Goutieres syndrome". Neuropediatrics. 23 (3): 157–61. doi:10.1055/s-2008-1071333. PMID 1641084. S2CID 23726903.
Crow, YJ; et al. (2006). "Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus". Nat Genet. 38 (8): 917–20. doi:10.1038/ng1845. PMID 16845398. S2CID 9069106.
Crow, YJ; et al. (2006). "Mutations in the genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection". Nat Genet. 38 (8): 910–6. doi:10.1038/ng1842. PMID 16845400. S2CID 8076225.
Rice, GI; et al. (2009). "Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response". Nat Genet. 41 (7): 829–32. doi:10.1038/ng.373. PMC 4154505. PMID 19525956.
Rice, GI; et al. (2012). "Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type 1 interferon signature". Nat Genet. 44 (11): 1243–8. doi:10.1038/ng.2414. PMC 4154508. PMID 23001123.
Rice, GI; et al. (2014). "Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type 1 interferon signaling". Nat Genet. 46 (5): 503–509. doi:10.1038/ng.2933. PMC 4004585. PMID 24686847.
Rice, GI; et al. (2007). "Clinical and molecular phenotype of Aicardi-Goutières syndrome". Am J Hum Genet. 81 (4): 713–25. doi:10.1086/521373. PMC 2227922. PMID 17846997.
McEntagart, M; Kamel, H; Lebon, P; King, MD (1998). "Aicardi-Goutieres syndrome: an expanding phenotype". Neuropediatrics. 29 (3): 163–7. doi:10.1055/s-2007-973555. PMID 9706629. S2CID 45315544.
Ostergaard, JR; Christensen, T; Nehen, AM (1999). "A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome". Neuropediatrics. 30 (1): 38–41. doi:10.1055/s-2007-973455. PMID 10222460. S2CID 23211260.
Vogt, J (2013). "Striking intrafamilial phenotypic variability in Aicardi-Goutieres syndrome associated with the recurrent Asian founder mutation in RNASEH2C". Am J Med Genet. 161A (2): 338–42. doi:10.1002/ajmg.a.35712. PMID 23322642. S2CID 20769368.
Crow, YJ; et al. (2004). "Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutieres syndrome". Am J Med Genet. 129A (3): 303–7. doi:10.1002/ajmg.a.30250. PMID 15326633. S2CID 37816566.
Figiel, Małgorzata; Chon, Hyongi; Cerritelli, Susana M.; Cybulska, Magdalena; Crouch, Robert J.; Nowotny, Marcin (2011-03-25). "The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects". The Journal of Biological Chemistry. 286 (12): 10540–10550. doi:10.1074/jbc.M110.181974. ISSN 1083-351X. PMC 3060507. PMID 21177858.
O'Driscoll M. C.; Daly S. B.; Urquhart J. E.; Black G.; Pilz D. T.; Brockmann K.; Crow Y. J. (2010). "Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria". The American Journal of Human Genetics. 87 (3): 354–364. doi:10.1016/j.ajhg.2010.07.012. PMC 2933344. PMID 20727516.
Crow, Yanick; Livingston, John (2016-12-01). "Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond". Neuropediatrics. 47 (6): 355–360. doi:10.1055/s-0036-1592307. ISSN 0174-304X. PMID 27643693.
Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy (2015-02-01). "Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1". American Journal of Medical Genetics Part A. 167 (2): 296–312. doi:10.1002/ajmg.a.36887. ISSN 1552-4833. PMC 4382202. PMID 25604658.
Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F.; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A. (2007). "Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome". The American Journal of Human Genetics. 81 (4): 713–725. doi:10.1086/521373. PMC 2227922. PMID 17846997.
Aditi; Downing, Susanna M.; Schreiner, Patrick A.; Kwak, Young Don; Li, Yang; Shaw, Timothy I.; Russell, Helen R.; McKinnon, Peter J. (2021-12-15). "Genome instability independent of type I interferon signaling drives neuropathology caused by impaired ribonucleotide excision repair". Neuron. 109 (24): 3962–3979.e6. doi:10.1016/j.neuron.2021.09.040. PMC 8686690. PMID 34655526.
Isaacs, A; Lindenmann, J (1957). "Virus interference. I. The interferon". Proc R Soc Lond B Biol Sci. 147 (927): 258–67. Bibcode:1957RSPSB.147..258I. doi:10.1098/rspb.1957.0048. PMID 13465720. S2CID 202574492.
Isaacs, A; Lindenmann, J; Valentine, RC (1957). "Virus interference. II. Some properties of interferon". Proc R Soc Lond B Biol Sci. 147 (927): 268–73. Bibcode:1957RSPSB.147..268I. doi:10.1098/rspb.1957.0049. PMID 13465721. S2CID 7106393.
Gresser, I; et al. (1980). "Interferon--induced disease in mice and rats". Ann N Y Acad Sci. 350 (1): 12–20. Bibcode:1980NYASA.350...12G. doi:10.1111/j.1749-6632.1980.tb20602.x. PMID 6165266. S2CID 817139.
Stetson, DB; Ko, JS; Heidmann, T; Medzhitov, R (2008). "Trex1 prevents cell-intrinsic initiation of autoimmunity". Cell. 134 (4): 587–98. doi:10.1016/j.cell.2008.06.032. PMC 2626626. PMID 18724932.
Crow, YJ; Rehwinkel, J (2009). "Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity". Hum Mol Genet. 18 (R2): R130–6. doi:10.1093/hmg/ddp293. PMC 2758706. PMID 19808788.
Stetson, DB (2012). "Endogenous retroelements and autoimmune disease". Curr Opin Immunol. 24 (6): 692–7. doi:10.1016/j.coi.2012.09.007. PMC 4005353. PMID 23062469.
Yan, Nan; Ashton D. Regalado-Magdos; Bart Stiggelbout; Min Ae Lee-Kirsch; Judy Lieberman Yu (Nov 2010). "The cytosolic exonuclease TREX1 inhibits the innate immune response to HIV-1". Nature Immunology. 11 (11): 1005–1013. doi:10.1038/ni.1941. PMC 2958248. PMID 20871604.
Ahn, Jeonghyun; Phillip Ruiz & Glen N. Barber (Sep 26, 2014). "Intrinsic Self-DNA Triggers Inflammatory Disease Dependent on STING". The Journal of Immunology. 193 (9): 4634–4642. doi:10.4049/jimmunol.1401337. PMC 5003413. PMID 25261479.
Zhao, Ke; Juan Du; Xue Han; John L Goodier; Peng Li; Xiaohong Zhou; Wei Wei; Sean L Evans; Linzhang Li; Wenyan Zhang; Ling E Cheung; Guanjun Wang; Haig H Kazazian Jr. & Xiao-Fang Yu (Sep 26, 2013). "Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutieres syndrome-related SAMHD1". Cell Reports. 4 (6): 1108–1115. doi:10.1016/j.celrep.2013.08.019. PMC 3988314. PMID 24035396.
Blau, N; et al. (2003). "Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype". Neurology. 61 (5): 642–7. doi:10.1212/01.wnl.0000082726.08631.e7. PMID 12963755. S2CID 11820426.
Rice, GI; et al. (2013). "Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR1: a case-control study". Lancet Neurol. 12 (12): 1159–69. doi:10.1016/S1474-4422(13)70258-8. PMC 4349523. PMID 24183309.
Uggetti, C; et al. (2009). "Aicardi-Goutieres syndrome: neuroradiologic findings and follow-ups". AJNR Am J Neuroradiol. 30 (10): 1971–6. doi:10.3174/ajnr.a1694. PMC 7051307. PMID 19628626.
Livingston, JH; Stivaros, S; van der Knaap, MS; Crow, YJ (2013). "Recognizable phenotypes associated with intracranial calcification". Dev Med Child Neurol. 55 (1): 46–57. doi:10.1111/j.1469-8749.2012.04437.x. PMID 23121296. S2CID 9146788.
Lebon, P; et al. (1988). "Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy". J Neurol Sci. 84 (2–3): 201–8. doi:10.1016/0022-510x(88)90125-6. PMID 2837539. S2CID 21811789.
Black, DN; et al. (1988). "Encephalitis among Cree children in northern Quebec". Ann Neurol. 24 (4): 483–9. doi:10.1002/ana.410240402. PMID 3239950. S2CID 32112982.
Crow, YJ; et al. (2003). "Cree encephalitis is allelic with Aicardi-Goutières syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism". J Med Genet. 40 (3): 183–7. doi:10.1136/jmg.40.3.183. PMC 1735395. PMID 12624136.

harvard.edu

ui.adsabs.harvard.edu

Isaacs, A; Lindenmann, J (1957). "Virus interference. I. The interferon". Proc R Soc Lond B Biol Sci. 147 (927): 258–67. Bibcode:1957RSPSB.147..258I. doi:10.1098/rspb.1957.0048. PMID 13465720. S2CID 202574492.
Isaacs, A; Lindenmann, J; Valentine, RC (1957). "Virus interference. II. Some properties of interferon". Proc R Soc Lond B Biol Sci. 147 (927): 268–73. Bibcode:1957RSPSB.147..268I. doi:10.1098/rspb.1957.0049. PMID 13465721. S2CID 7106393.
Gresser, I; et al. (1980). "Interferon--induced disease in mice and rats". Ann N Y Acad Sci. 350 (1): 12–20. Bibcode:1980NYASA.350...12G. doi:10.1111/j.1749-6632.1980.tb20602.x. PMID 6165266. S2CID 817139.

nih.gov

pubmed.ncbi.nlm.nih.gov

Aicardi J, Goutieres F (1984). "A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis". Ann Neurol. 15 (1): 49–54. doi:10.1002/ana.410150109. PMID 6712192. S2CID 42800185.
Tolmie JL; Shillito P; Hughes-Benzie R; Stephenson JB (1995). "The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)". J Med Genet. 32 (11): 881–884. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332.
Aicardi, J; Goutieres, F (2000). "Systemic lupus erythematosus or Aicardi-Goutieres syndrome?". Neuropediatrics. 31 (3): 113. doi:10.1055/s-2000-7533. PMID 10963096. S2CID 36933780.
Dale RC; Tang SP; Heckmatt JZ; Tatnall FM (2000). "Familial systemic lupus erythematosus and congenital infection-like syndrome". Neuropediatrics. 31 (3): 155–158. doi:10.1055/s-2000-7492. PMID 10963105. S2CID 39793944.
Crow, YJ; Livingston, JH (2008). "Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection". Dev Med Child Neurol. 50 (6): 410–416. doi:10.1111/j.1469-8749.2008.02062.x. PMID 18422679. S2CID 36342200.
Bonnemann, CG; Meinecke, P (1992). "Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis - another case of the Aicardi-Goutieres syndrome". Neuropediatrics. 23 (3): 157–61. doi:10.1055/s-2008-1071333. PMID 1641084. S2CID 23726903.
Crow, YJ; et al. (2006). "Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus". Nat Genet. 38 (8): 917–20. doi:10.1038/ng1845. PMID 16845398. S2CID 9069106.
Crow, YJ; et al. (2006). "Mutations in the genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection". Nat Genet. 38 (8): 910–6. doi:10.1038/ng1842. PMID 16845400. S2CID 8076225.
Rice, GI; et al. (2009). "Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response". Nat Genet. 41 (7): 829–32. doi:10.1038/ng.373. PMC 4154505. PMID 19525956.
Rice, GI; et al. (2012). "Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type 1 interferon signature". Nat Genet. 44 (11): 1243–8. doi:10.1038/ng.2414. PMC 4154508. PMID 23001123.
Rice, GI; et al. (2014). "Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type 1 interferon signaling". Nat Genet. 46 (5): 503–509. doi:10.1038/ng.2933. PMC 4004585. PMID 24686847.
Rice, GI; et al. (2007). "Clinical and molecular phenotype of Aicardi-Goutières syndrome". Am J Hum Genet. 81 (4): 713–25. doi:10.1086/521373. PMC 2227922. PMID 17846997.
McEntagart, M; Kamel, H; Lebon, P; King, MD (1998). "Aicardi-Goutieres syndrome: an expanding phenotype". Neuropediatrics. 29 (3): 163–7. doi:10.1055/s-2007-973555. PMID 9706629. S2CID 45315544.
Ostergaard, JR; Christensen, T; Nehen, AM (1999). "A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome". Neuropediatrics. 30 (1): 38–41. doi:10.1055/s-2007-973455. PMID 10222460. S2CID 23211260.
Vogt, J (2013). "Striking intrafamilial phenotypic variability in Aicardi-Goutieres syndrome associated with the recurrent Asian founder mutation in RNASEH2C". Am J Med Genet. 161A (2): 338–42. doi:10.1002/ajmg.a.35712. PMID 23322642. S2CID 20769368.
Crow, YJ; et al. (2004). "Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutieres syndrome". Am J Med Genet. 129A (3): 303–7. doi:10.1002/ajmg.a.30250. PMID 15326633. S2CID 37816566.
Figiel, Małgorzata; Chon, Hyongi; Cerritelli, Susana M.; Cybulska, Magdalena; Crouch, Robert J.; Nowotny, Marcin (2011-03-25). "The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects". The Journal of Biological Chemistry. 286 (12): 10540–10550. doi:10.1074/jbc.M110.181974. ISSN 1083-351X. PMC 3060507. PMID 21177858.
O'Driscoll M. C.; Daly S. B.; Urquhart J. E.; Black G.; Pilz D. T.; Brockmann K.; Crow Y. J. (2010). "Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria". The American Journal of Human Genetics. 87 (3): 354–364. doi:10.1016/j.ajhg.2010.07.012. PMC 2933344. PMID 20727516.
Crow, Yanick J. (2016-11-22). "Aicardi-Goutières Syndrome". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301648.
Crow, Yanick; Livingston, John (2016-12-01). "Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond". Neuropediatrics. 47 (6): 355–360. doi:10.1055/s-0036-1592307. ISSN 0174-304X. PMID 27643693.
Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy (2015-02-01). "Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1". American Journal of Medical Genetics Part A. 167 (2): 296–312. doi:10.1002/ajmg.a.36887. ISSN 1552-4833. PMC 4382202. PMID 25604658.
Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F.; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A. (2007). "Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome". The American Journal of Human Genetics. 81 (4): 713–725. doi:10.1086/521373. PMC 2227922. PMID 17846997.
Aditi; Downing, Susanna M.; Schreiner, Patrick A.; Kwak, Young Don; Li, Yang; Shaw, Timothy I.; Russell, Helen R.; McKinnon, Peter J. (2021-12-15). "Genome instability independent of type I interferon signaling drives neuropathology caused by impaired ribonucleotide excision repair". Neuron. 109 (24): 3962–3979.e6. doi:10.1016/j.neuron.2021.09.040. PMC 8686690. PMID 34655526.
Isaacs, A; Lindenmann, J (1957). "Virus interference. I. The interferon". Proc R Soc Lond B Biol Sci. 147 (927): 258–67. Bibcode:1957RSPSB.147..258I. doi:10.1098/rspb.1957.0048. PMID 13465720. S2CID 202574492.
Isaacs, A; Lindenmann, J; Valentine, RC (1957). "Virus interference. II. Some properties of interferon". Proc R Soc Lond B Biol Sci. 147 (927): 268–73. Bibcode:1957RSPSB.147..268I. doi:10.1098/rspb.1957.0049. PMID 13465721. S2CID 7106393.
Gresser, I; et al. (1980). "Interferon--induced disease in mice and rats". Ann N Y Acad Sci. 350 (1): 12–20. Bibcode:1980NYASA.350...12G. doi:10.1111/j.1749-6632.1980.tb20602.x. PMID 6165266. S2CID 817139.
Stetson, DB; Ko, JS; Heidmann, T; Medzhitov, R (2008). "Trex1 prevents cell-intrinsic initiation of autoimmunity". Cell. 134 (4): 587–98. doi:10.1016/j.cell.2008.06.032. PMC 2626626. PMID 18724932.
Crow, YJ; Rehwinkel, J (2009). "Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity". Hum Mol Genet. 18 (R2): R130–6. doi:10.1093/hmg/ddp293. PMC 2758706. PMID 19808788.
Stetson, DB (2012). "Endogenous retroelements and autoimmune disease". Curr Opin Immunol. 24 (6): 692–7. doi:10.1016/j.coi.2012.09.007. PMC 4005353. PMID 23062469.
Yan, Nan; Ashton D. Regalado-Magdos; Bart Stiggelbout; Min Ae Lee-Kirsch; Judy Lieberman Yu (Nov 2010). "The cytosolic exonuclease TREX1 inhibits the innate immune response to HIV-1". Nature Immunology. 11 (11): 1005–1013. doi:10.1038/ni.1941. PMC 2958248. PMID 20871604.
Ahn, Jeonghyun; Phillip Ruiz & Glen N. Barber (Sep 26, 2014). "Intrinsic Self-DNA Triggers Inflammatory Disease Dependent on STING". The Journal of Immunology. 193 (9): 4634–4642. doi:10.4049/jimmunol.1401337. PMC 5003413. PMID 25261479.
Zhao, Ke; Juan Du; Xue Han; John L Goodier; Peng Li; Xiaohong Zhou; Wei Wei; Sean L Evans; Linzhang Li; Wenyan Zhang; Ling E Cheung; Guanjun Wang; Haig H Kazazian Jr. & Xiao-Fang Yu (Sep 26, 2013). "Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutieres syndrome-related SAMHD1". Cell Reports. 4 (6): 1108–1115. doi:10.1016/j.celrep.2013.08.019. PMC 3988314. PMID 24035396.
Blau, N; et al. (2003). "Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype". Neurology. 61 (5): 642–7. doi:10.1212/01.wnl.0000082726.08631.e7. PMID 12963755. S2CID 11820426.
Rice, GI; et al. (2013). "Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR1: a case-control study". Lancet Neurol. 12 (12): 1159–69. doi:10.1016/S1474-4422(13)70258-8. PMC 4349523. PMID 24183309.
Uggetti, C; et al. (2009). "Aicardi-Goutieres syndrome: neuroradiologic findings and follow-ups". AJNR Am J Neuroradiol. 30 (10): 1971–6. doi:10.3174/ajnr.a1694. PMC 7051307. PMID 19628626.
Livingston, JH; Stivaros, S; van der Knaap, MS; Crow, YJ (2013). "Recognizable phenotypes associated with intracranial calcification". Dev Med Child Neurol. 55 (1): 46–57. doi:10.1111/j.1469-8749.2012.04437.x. PMID 23121296. S2CID 9146788.
Lebon, P; et al. (1988). "Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy". J Neurol Sci. 84 (2–3): 201–8. doi:10.1016/0022-510x(88)90125-6. PMID 2837539. S2CID 21811789.
Black, DN; et al. (1988). "Encephalitis among Cree children in northern Quebec". Ann Neurol. 24 (4): 483–9. doi:10.1002/ana.410240402. PMID 3239950. S2CID 32112982.
Crow, YJ; et al. (2003). "Cree encephalitis is allelic with Aicardi-Goutières syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism". J Med Genet. 40 (3): 183–7. doi:10.1136/jmg.40.3.183. PMC 1735395. PMID 12624136.

ncbi.nlm.nih.gov

Tolmie JL; Shillito P; Hughes-Benzie R; Stephenson JB (1995). "The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)". J Med Genet. 32 (11): 881–884. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332.
Rice, GI; et al. (2009). "Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response". Nat Genet. 41 (7): 829–32. doi:10.1038/ng.373. PMC 4154505. PMID 19525956.
Rice, GI; et al. (2012). "Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type 1 interferon signature". Nat Genet. 44 (11): 1243–8. doi:10.1038/ng.2414. PMC 4154508. PMID 23001123.
Rice, GI; et al. (2014). "Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type 1 interferon signaling". Nat Genet. 46 (5): 503–509. doi:10.1038/ng.2933. PMC 4004585. PMID 24686847.
Rice, GI; et al. (2007). "Clinical and molecular phenotype of Aicardi-Goutières syndrome". Am J Hum Genet. 81 (4): 713–25. doi:10.1086/521373. PMC 2227922. PMID 17846997.
Figiel, Małgorzata; Chon, Hyongi; Cerritelli, Susana M.; Cybulska, Magdalena; Crouch, Robert J.; Nowotny, Marcin (2011-03-25). "The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects". The Journal of Biological Chemistry. 286 (12): 10540–10550. doi:10.1074/jbc.M110.181974. ISSN 1083-351X. PMC 3060507. PMID 21177858.
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Figiel, Małgorzata; Chon, Hyongi; Cerritelli, Susana M.; Cybulska, Magdalena; Crouch, Robert J.; Nowotny, Marcin (2011-03-25). "The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects". The Journal of Biological Chemistry. 286 (12): 10540–10550. doi:10.1074/jbc.M110.181974. ISSN 1083-351X. PMC 3060507. PMID 21177858.
Crow, Yanick; Livingston, John (2016-12-01). "Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond". Neuropediatrics. 47 (6): 355–360. doi:10.1055/s-0036-1592307. ISSN 0174-304X. PMID 27643693.
Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy (2015-02-01). "Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1". American Journal of Medical Genetics Part A. 167 (2): 296–312. doi:10.1002/ajmg.a.36887. ISSN 1552-4833. PMC 4382202. PMID 25604658.