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Hepatic Involvement in Aicardi-Goutières Syndrome.
Gavazzi F, Cross ZM, Woidill S, McMann JM, Rand EB, Takanohashi A, Ulrick N, Shults J, Vanderver AL, Adang L. Gavazzi F, et al. Among authors: vanderver al. Neuropediatrics. 2021 Dec;52(6):441-447. doi: 10.1055/s-0040-1722673. Epub 2021 Jan 14. Neuropediatrics. 2021. PMID: 33445189 Free PMC article.
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Bernard G, et al. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Am J Hum Genet. 2011. PMID: 21855841 Free PMC article.
Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.
Takanohashi A, Prust M, Wang J, Gordish-Dressman H, Bloom M, Rice GI, Schmidt JL, Crow YJ, Lebon P, Kuijpers TW, Nagaraju K, Vanderver A. Takanohashi A, et al. Neurology. 2013 Mar 12;80(11):997-1002. doi: 10.1212/WNL.0b013e3182872694. Epub 2013 Feb 13. Neurology. 2013. PMID: 23408864 Free PMC article.
Therapies in Aicardi-Goutières syndrome.
Crow YJ, Vanderver A, Orcesi S, Kuijpers TW, Rice GI. Crow YJ, et al. Clin Exp Immunol. 2014 Jan;175(1):1-8. doi: 10.1111/cei.12115. Clin Exp Immunol. 2014. PMID: 23607857 Free PMC article. Review.
Disease specific therapies in leukodystrophies and leukoencephalopathies.
Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium. Helman G, et al. Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7. Mol Genet Metab. 2015. PMID: 25684057 Free PMC article.
Update on Leukodystrophies: A Historical Perspective and Adapted Definition.
Kevelam SH, Steenweg ME, Srivastava S, Helman G, Naidu S, Schiffmann R, Blaser S, Vanderver A, Wolf NI, van der Knaap MS. Kevelam SH, et al. Neuropediatrics. 2016 Dec;47(6):349-354. doi: 10.1055/s-0036-1588020. Epub 2016 Aug 26. Neuropediatrics. 2016. PMID: 27564080 Review.
206 results