Bibliografia

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Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB. The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). J Med Genet 1995; 32: 881-884.

Bachmeyer C, Farge D, Gluckman E, Miclea JM, Aractingi S. Raynold’s phenomenon and digital necrosis induced by interferon-alpha. British J Dermatol 1996; 135: 481-483.

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Verrips A, Hiel JA, Gabreels FJ, et al. The Aicardi-Goutieres syndrome: variable clinical expression in two siblings. Pediatr Neurol 1997; 16: 323-325.

Akwa Y, Hassett DE, Eloranta ML, et al. Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. J Immunol 1998; 161: 5016-5026.

Duffey P, Coulthard A, Burn DJ. Late observation of the Goutieres-Aicardi syndrome. Mov Disord 1998;13:179-182.

Goutières F, Aicardi J, Barth PG, Lebon P. Aicardi-Goutières syndrome: an update and results of interferon-alpha studies. Ann Neurol 1998; 44: 900-90.

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Kumar D, Rittey C, Cameron AH, Variend S. Recognizable inherited syndrome syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières. Am J Med Genet 1998;75:508-515.

Barth PG, WalterA: Aicardi-Goutieres syndrome:a genetic microangiopathy? Acta Neuropathol 1999; 98: 212-216.

Campbell IL, Krucker T, Steffensen S, et al. Structural and functional neuropathology in transgenic mice with CNS expression of IFN-a. Brain Res 1999; 835:46-61.

Faure S, Bordelais I, Marquette C, et al. Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease? Clin Genet 1999; 56:149-153.

Ostergaard JR, Christensen T, Nehen AM. A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome. Neuropediatrics 1999; 30: 38-41.

Aicardi J, Goutières F. Systemic lupus erythematosus or Aicardi-Goutières syndrome? Neuropediatrics 2000; 31: 113.

Crow YJ, Jackson AP, Roberts E, et al. Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet 2000; 67: 213-221

Dale RC, Tang SP, Heckmatt JZ, Tatnal FM. Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics 2000; 31: 155-158.

Mbuila C, Mangyanda MK, Nzenzo H, et al. Meningitis and interferon-alpha in the cereprospinal fluid. What diagnostic and therapeutic approach? A case report . Arch Pediatr 2000; 7 : 1197-1200.

Koul R, Chacko A, Joshi S, Sankhla D. Aicardi-Goutieres syndrome in siblings. J Child Neurol 2001; 16: 759-61.

Polizzi A, Pavone P, Parano E, et al. Lack of progression of brain atrophy in Aicardi Goutières syndrome. Pediatr Neurol 2001; 24: 300-302.

Vivarelli R, Grosso S, Cioni M et al. Pseudo-TORCH syndrome or Baraister-Reardon syndrome: diagnostic criteria. Brain Dev 2001; 23: 18-23.

Aicardi J. Aicardi-Goutieres syndrome: special type early-onset encephalopathy. Eur J Paediatr Neurol 2002; 6 suppl A: A1-A7.

Lanzi G, Fazzi E, D’Arrigo S. Aicardi-Goutieres syndrome: a description of 21 new casesand comparison with literature. Eur J Paediatr Neurol 2002; 6 suppl A:A9-A2.

Barth PG. The neuropathology of Aicardi-Goutieres syndrome. Eur J Paediatr Neurol 2002; 6 suppl A: A27-A31.

Kuijpers TW. Aicardi-Goutieres syndrome: immunophenotyping in relation to interferon alpha. Eur J Paediatr Neurol 2002; 6 suppl A: A59-A64.

Lebon P, Meritet JF, Krivine A, Rozenberg F. Interferon and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol 2002; 6 suppl A: A47-A53.

Crow Y. The genetics of Aicardi-Goutieres syndrome. Eur J Paediatr Neurol 2002; 6 suppl.A: A33-A35.

De Andrea M, Ravera R, Gioia D,Gariglio M. The interferon system: an overview. Eur J Paediatr Neurol 2002; 6 suppl. A: A41-A46.

Stephenson JB. Aicardi-Goutieres syndrome. Observation of the Glasgow school. Eur J Paediatr Neurol 2002; 6 suppl A: A67-A70.

Fischbach M Rare genetic diseases – New opportunities and challenges through biotechnological progress and scientific knowledge Eur J Paediatr Neurol 2002; 6 suppl A: A71-A75.

Di Ciommo V, Russo P, Ravà L, Caprino L. Interferon alpha in the treatment of chronic hepatitis C in children: a metanalysis. J Viral Hepat 2003; 10: 210-214.

Crow YJ, Black DN, Ali M, et al. Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implication for the pathogenesis of disorders of interferon alpha metabolism. . J Med Genet 2003; 40: 183-187.

Blau N, Bonafè L, Krägeloh-Mann, et al. Cerebrospinal fluid pterins and folates in Aicardi- Goutieres syndrome. Neurology 2003; 61: 642-647.

 

Solomon T, Dung NM, Wills B, et al. Interferon alfa-2a in japanese encephalitis: a randomised double-blind placebo-controlled trial. Lancet 2003; 361: 821-826.

 

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.

 

Ostergaard JR, Christensen T. Aicardi-Goutières syndrome : neuroradiological findings after nine years of follow-up. Eur J Paediatr Neurol 2004; 8(5): 243-6.

 

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.

 

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.

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.
Neuropediatrics. 2005 Dec;36(6):399-402.

 

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.
Fetal Diagn Ther. 2006;21(1):153-5.

 

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.

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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

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.

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

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.

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

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.

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. H T.J Biol Chem. 2010 Feb 5;285(6):3617-24.

Ramesh V, Bernardi B, Stafa A, Garone C, Franzoni E, Abinun M, Mitchell P, Mitra D, Friswell M, Nelson J, Shalev SA, Rice GI, Gornall H, Szynkiewicz M, Aymard F, Ganesan V, Prendiville J, Livingston JH, Crow YJ.
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.
Dev Med Child Neurol. 2010 Aug;52(8):725-32.

Haaxma CA, Crow YJ, van Steensel MA, Lammens MM, Rice GI, Verbeek MM, Willemsen MA.
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
Am J Med Genet A. 2010 Oct;152A(10):2612-7.

Thiele H, du Moulin M, Barczyk K, George C, Schwindt W, Nürnberg G, Frosch M, Kurlemann G, Roth J, Nürnberg P, Rutsch F
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.
Hum Mutat. 2010 Nov;31(11):E1836-50.

Rychlik MP, Chon H, Cerritelli SM, Klimek P, Crouch RJ, Nowotny M.
Crystal structures of RNase H2 in complex with nucleic acid reveal the mechanism of RNA-DNA junction recognition and cleavage.
Mol Cell. 2010 Nov 24;40(4):658-70.

Dale RC, Brilot F.
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Curr Opin Pediatr. 2010 Dec;22(6):718-25

Serra M, Forcales SV, Pereira-Lopes S, Lloberas J, Celada A.
Characterization of Trex1 induction by IFN-? in murine macrophages.
J Immunol. 2011 Feb 15;186(4):2299-308.

Figiel M, Chon H, Cerritelli SM, Cybulska M, Crouch RJ, Nowotny M.
The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects.
J Biol Chem. 2011 Mar 25;286(12):10540-50

Reijns MA, Bubeck D, Gibson LC, Graham SC, Baillie GS, Jones EY, Jackson AP.
The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease.
J Biol Chem. 2011 Mar 25;286(12):10530-9.

Leshinsky-Silver E, Malinger G, Ben-Sira L, Kidron D, Cohen S, Inbar S, Bezaleli T, Levine A, Vinkler C, Lev D, Lerman-Sagie T.
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.
Eur J Hum Genet. 2011 Mar;19(3):287-92

Coffin SR, Hollis T, Perrino FW.
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
J Biol Chem. 2011 May 13;286(19):16984-91

Bubeck D, Reijns MA, Graham SC, Astell KR, Jones EY, Jackson AP
PCNA directs type 2 RNase H activity on DNA replication and repair substrates.
Nucleic Acids Res. 2011 May;39(9):3652-66.

Laguette N, Sobhian B, Casartelli N, Ringeard M, Chable-Bessia C, Ségéral E, Yatim A, Emiliani S, Schwartz O, Benkirane M.
SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx.
Nature. 2011 May 25;474(7353):654-7

Mizuno Y, Takahashi K, Igarashi T, Saito M, Mizuguchi M.
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Brain Dev. 2011 Jun;33(6):530-3

Namjou B, Kothari PH, Kelly JA, Glenn SB, Ojwang JO, Adler A, Alarcón-Riquelme ME, Gallant CJ, Boackle SA, Criswell LA, Kimberly RP, Brown E, Edberg J, Stevens AM, Jacob CO, Tsao BP, Gilkeson GS, Kamen DL, Merrill JT, Petri M, Goldman RR, Vila LM, Anaya JM, Niewold TB, Martin J, Pons-Estel BA, Sabio JM, Callejas JL, Vyse TJ, Bae SC, Perrino FW, Freedman BI, Scofield RH, Moser KL, Gaffney PM, James JA, Langefeld CD, Kaufman KM, Harley JB, Atkinson JP.
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
Genes Immun. 2011 Jun;12(4):270-9.

Hrecka K, Hao C, Gierszewska M, Swanson SK, Kesik-Brodacka M, Srivastava S, Florens L, Washburn MP, Skowronski J.
Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein.
Nature. 2011 Jun 29;474(7353):658-61

du Moulin M, Nürnberg P, Crow YJ, Rutsch F.
Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations.
Proc Natl Acad Sci U S A. 2011 Jun 28;108(26):E232; author reply E233

Fye JM, Orebaugh CD, Coffin SR, Hollis T, Perrino FW.
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome.
J Biol Chem. 2011 Sep 16;286(37):32373-82

Manel N, Littman DR.
Hiding in plain sight: how HIV evades innate immune responses.
Cell. 2011 Oct 14;147(2):271-4

Ramantani G, Häusler M, Niggemann P, Wessling B, Guttmann H, Mull M, Tenbrock K, Lee-Kirsch MA.
Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.
J Child Neurol. 2011 Nov;26(11):1425-8.

Crow YJ.
Type I interferonopathies: a novel set of inborn errors of immunity.
Ann N Y Acad Sci. 2011 Nov;1238:91-8

Beck-Engeser GB, Eilat D, Wabl M.
An autoimmune disease prevented by anti-retroviral drugs.
Retrovirology. 2011 Nov 8;8:91.

Goldstone DC, Ennis-Adeniran V, Hedden JJ, Groom HC, Rice GI, Christodoulou E, Walker PA, Kelly G, Haire LF, Yap MW, de Carvalho LP, Stoye JP, Crow YJ, Taylor IA, Webb M.
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase.
Nature. 2011 Nov 6;480(7377):379-82

Orebaugh CD, Fye JM, Harvey S, Hollis T, Perrino FW.
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
J Biol Chem. 2011 Nov 18;286(46):40246-54.

Thibault M, Leydet J, Tournier-Lasserve E, Crow YJ, Rivier F, Echenne B, Langlois C, Daudet H, Sarda P, Roubertie A.
Genetic syndromes that mimic congenital infections: report of 2 cases.
Arch Pediatr. 2011 Dec;18(12):1297-1301

Pulliero A, Fazzi E, Cartiglia C, Orcesi S, Balottin U, Uggetti C, La Piana R, Olivieri I, Galli J, Izzotti A.
The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload.
Mutat Res. 2011 Dec 1;717(1-2):99-108

Powell RD, Holland PJ, Hollis T, Perrino FW.
Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase.
J Biol Chem. 2011 Dec 23;286(51):43596-600

Berger A, Sommer AF, Zwarg J, Hamdorf M, Welzel K, Esly N, Panitz S, Reuter A, Ramos I, Jatiani A, Mulder LC, Fernandez-Sesma A, Rutsch F, Simon V, König R, Flory E.
SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection.
PLoS Pathog. 2011 Dec;7(12)

Bailey SL, Harvey S, Perrino FW, Hollis T.
Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease.
DNA Repair (Amst). 2012 Jan 2;11(1):65-73

Izzotti A, Longobardi M, Cartiglia C, Anzuini F, Arrigo P, Fazzi E, Orcesi S, Piana RL, Pulliero A.
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.
J Child Neurol. 2012 Jan;27(1):51-60

Gall A, Treuting P, Elkon KB, Loo YM, Gale M Jr, Barber GN, Stetson DB.
Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease.
Immunity. 2012 Jan 27;36(1):120-31.

Lazzaro F, Novarina D, Amara F, Watt DL, Stone JE, Costanzo V, Burgers PM, Kunkel TA, Plevani P, Muzi-Falconi M.
RNase H and postreplication repair protect cells from ribonucleotides incorporated in DNA.
Mol Cell. 2012 Jan 13;45(1):99-110

Schaller T, Goujon C, Malim MH.
AIDS/HIV. HIV interplay with SAMHD1.
Science. 2012 Mar 16;335(6074):1313-4.

Reijns MA, Rabe B, Rigby RE, Mill P, Astell KR, Lettice LA, Boyle S, Leitch A, Keighren M, Kilanowski F, Devenney PS, Sexton D, Grimes G, Holt IJ, Hill RE, Taylor MS, Lawson KA, Dorin JR, Jackson AP.
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Cell. 2012 May 25;149(5):1008-22

Prinz M, Knobeloch KP.
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La Piana R, Tran LT, Guerrero K, Brais B, Levesque S, Sébire G, Riou E, Bernard G. Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome. Neuropediatrics. 2014 Dec;45(6):406-10

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Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, Piana R, Uggetti C, Wang J, Gordisch-Dressman H, Knaap MS, Livingston JH. Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. J Child Neurol. 2014 Dec 22

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