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Gatti, Richard A; Perlman, Susan (2009) A proposed bailout for A-T patients? Eur J Neurol 16:653-5
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Mitui, M; Nahas, S A; Du, L T et al. (2009) Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. Hum Mutat 30:12-21
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Hu, Hailiang; Gatti, Richard A (2008) New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals. Curr Opin Allergy Clin Immunol 8:540-6
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Cavalieri, Simona; Funaro, Ada; Pappi, Patrizia et al. (2008) Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. Ann Hum Genet 72:10-8
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Lavin, Martin F; Gueven, Nuri; Bottle, Stephen et al. (2007) Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia. Br Med Bull 81-82:129-47
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Du, Liutao; Pollard, Julianne M; Gatti, Richard A (2007) Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides. Proc Natl Acad Sci U S A 104:6007-12
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Ambrose, Mark; Goldstine, Jimena V; Gatti, Richard A (2007) Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells. Hum Mol Genet 16:2154-64
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Landmark, H; Nahas, S A; Aaroe, J et al. (2007) Transcriptional response to ionizing radiation in human radiation sensitive cell lines. Radiother Oncol 83:256-60
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Cavalieri, Simona; Funaro, Ada; Porcedda, Paola et al. (2006) ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. Hum Mutat 27:1061
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Babaei, Mahnoush; Mitui, Midori; Olson, Eric R et al. (2005) ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype. Hum Genet 117:101-6
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