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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2012 | 1 |
2016 | 1 |
2020 | 1 |
2021 | 2 |
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Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Pediatr Neurol. 2021 Feb;115:1-6. doi: 10.1016/j.pediatrneurol.2020.10.012. Epub 2020 Nov 2.
Pediatr Neurol. 2021.
PMID: 33307271
Free PMC article.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ.
Rice GI, et al.
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.
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Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.
Jones HF, Stoll M, Ho G, O'Neill D, Han VX, Paget S, Stewart K, Lewis J, Kothur K, Troedson C, Crow YJ, Dale RC, Mohammad SS.
Jones HF, et al.
Brain Dev. 2022 Feb;44(2):153-160. doi: 10.1016/j.braindev.2021.10.001. Epub 2021 Oct 24.
Brain Dev. 2022.
PMID: 34702576
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Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene.
Zhang G, Shao M, Li Z, Gu Y, Du X, Wang X, Li M.
Zhang G, et al.
BMC Med Genet. 2016 Feb 18;17:14. doi: 10.1186/s12881-015-0255-1.
BMC Med Genet. 2016.
PMID: 26892242
Free PMC article.
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