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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2013 | 1 |
2014 | 2 |
2015 | 1 |
2016 | 1 |
2017 | 2 |
2024 | 0 |
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Page 1
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23.
Nat Genet. 2012.
PMID: 23001123
Free PMC article.
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.
Livingston JH, Lin JP, Dale RC, Gill D, Brogan P, Munnich A, Kurian MA, Gonzalez-Martinez V, De Goede CG, Falconer A, Forte G, Jenkinson EM, Kasher PR, Szynkiewicz M, Rice GI, Crow YJ.
Livingston JH, et al.
J Med Genet. 2014 Feb;51(2):76-82. doi: 10.1136/jmedgenet-2013-102038. Epub 2013 Nov 21.
J Med Genet. 2014.
PMID: 24262145
Item in Clipboard
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI.
Crow YJ, et al.
Neuropediatrics. 2014 Dec;45(6):386-93. doi: 10.1055/s-0034-1389161. Epub 2014 Sep 22.
Neuropediatrics. 2014.
PMID: 25243380
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A Phenotypic Screen for Functional Mutants of Human Adenosine Deaminase Acting on RNA 1.
Wang Y, Havel J, Beal PA.
Wang Y, et al.
ACS Chem Biol. 2015 Nov 20;10(11):2512-9. doi: 10.1021/acschembio.5b00711. Epub 2015 Sep 22.
ACS Chem Biol. 2015.
PMID: 26372505
Free PMC article.
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Effects of Aicardi-Goutières syndrome mutations predicted from ADAR-RNA structures.
Fisher AJ, Beal PA.
Fisher AJ, et al.
RNA Biol. 2017 Feb;14(2):164-170. doi: 10.1080/15476286.2016.1267097. Epub 2016 Dec 12.
RNA Biol. 2017.
PMID: 27937139
Free PMC article.
Review.
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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ.
Rice GI, et al.
Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10.
Neuropediatrics. 2017.
PMID: 28561207
Free PMC article.
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