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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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2006 | 1 |
2008 | 1 |
2012 | 1 |
2013 | 1 |
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2016 | 1 |
2018 | 1 |
2020 | 1 |
2021 | 1 |
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7 results
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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.
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Piccoli C, Bronner N, Gavazzi F, Dubbs H, De Simone M, De Giorgis V, Orcesi S, Fazzi E, Galli J, Masnada S, Tonduti D, Varesio C, Vanderver A, Vossough A, Adang L.
Piccoli C, et al.
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.
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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
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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Travaglini L, Aiello C, Stregapede F, D'Amico A, Alesi V, Ciolfi A, Bruselles A, Catteruccia M, Pizzi S, Zanni G, Loddo S, Barresi S, Vasco G, Tartaglia M, Bertini E, Nicita F.
Travaglini L, et al.
Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24.
Neurogenetics. 2018.
PMID: 29691679
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Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation.
Tojo K, Sekijima Y, Suzuki T, Suzuki N, Tomita Y, Yoshida K, Hashimoto T, Ikeda S.
Tojo K, et al.
Mov Disord. 2006 Sep;21(9):1510-3. doi: 10.1002/mds.21011.
Mov Disord. 2006.
PMID: 16817193
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Dyschromatosis symmetrica hereditaria associated with neurological disorders.
Kondo T, Suzuki T, Ito S, Kono M, Negoro T, Tomita Y.
Kondo T, et al.
J Dermatol. 2008 Oct;35(10):662-6. doi: 10.1111/j.1346-8138.2008.00540.x.
J Dermatol. 2008.
PMID: 19017046
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Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.
Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Moriwaki S, Matsumoto K, Matsumoto N, Tomita Y, Sugiura K, Akiyama M.
Kono M, et al.
J Invest Dermatol. 2016 Apr;136(4):875-878. doi: 10.1016/j.jid.2015.12.034. Epub 2016 Jan 21.
J Invest Dermatol. 2016.
PMID: 26802932
Free article.
No abstract available.
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