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A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.
Nakamura K, Fike F, Haghayegh S, Saunders-Pullman R, Dawson AJ, Dörk T, Gatti RA. Nakamura K, et al. Among authors: gatti ra. Mol Genet Genomic Med. 2014 Jul;2(4):332-40. doi: 10.1002/mgg3.72. Epub 2014 Mar 13. Mol Genet Genomic Med. 2014. PMID: 25077176 Free PMC article.
Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment.
Yanofsky RA, Seshia SS, Dawson AJ, Stobart K, Greenberg CR, Booth FA, Prasad C, Del Bigio MR, Wrogemann JJ, Fike F, Gatti RA. Yanofsky RA, et al. Among authors: gatti ra. Can J Neurol Sci. 2009 Jul;36(4):462-7. doi: 10.1017/s0317167100007794. Can J Neurol Sci. 2009. PMID: 19650357
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, Perlman S, Lavin MF, Geschwind DH, Coppola G. Fogel BL, et al. Among authors: gatti ra. Hum Mol Genet. 2014 Sep 15;23(18):4758-69. doi: 10.1093/hmg/ddu190. Epub 2014 Apr 23. Hum Mol Genet. 2014. PMID: 24760770 Free PMC article.
ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response.
Martin NT, Nakamura K, Davies R, Nahas SA, Brown C, Tunuguntla R, Gatti RA, Hu H. Martin NT, et al. Among authors: gatti ra. PLoS Genet. 2013 May;9(5):e1003505. doi: 10.1371/journal.pgen.1003505. Epub 2013 May 16. PLoS Genet. 2013. PMID: 23696749 Free PMC article.
Ataxia-telangiectasia with female fertility.
Dawson AJ, Marles S, Tomiuk M, Riordan D, Gatti RA. Dawson AJ, et al. Among authors: gatti ra. Am J Med Genet A. 2015 Aug;167A(8):1937-9. doi: 10.1002/ajmg.a.37084. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914063 No abstract available.
314 results