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Ataxia Telangiectasia

Known as: ATAXIA-TELANGIECTASIA, Louis Bar Syndrome, AT, COMPLEMENTATION GROUP A 
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of… 
National Institutes of Health

Papers overview

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Review
2008
Review
2008
  • M. Lavin
  • Nature Reviews Molecular Cell Biology
  • 2008
  • Corpus ID: 1869703
First described over 80 years ago, ataxia-telangiectasia (A-T) was defined as a clinical entity 50 years ago. Although not… 
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Highly Cited
2004
Highly Cited
2004
The serine/threonine protein kinase ATM signals to cell cycle and DNA repair components by phosphorylating downstream targets… 
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Highly Cited
2000
Highly Cited
2000
The protein kinase Chk2, the mammalian homolog of the budding yeast Rad53 and fission yeast Cds1 checkpoint kinases, is… 
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Highly Cited
1999
Highly Cited
1999
We show that hypomorphic mutations in hMRE11, but not in ATM, are present in certain individuals with an ataxia-telangiectasia… 
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Highly Cited
1996
Highly Cited
1996
A murine model of ataxia telangiectasia was created by disrupting the Atm locus via gene targeting. Mice homozygous for the… 
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Highly Cited
1995
Highly Cited
1995
A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning… 
Highly Cited
1992
Highly Cited
1992
Cell cycle checkpoints can enhance cell survival and limit mutagenic events following DNA damage. Primary murine fibroblasts… 
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Highly Cited
1991
Highly Cited
1991
BACKGROUND Ataxia-telangiectasia is an autosomal recessive syndrome in which cancers develop in affected homozygotes at a rate… 
Highly Cited
1980
Highly Cited
1980
The cause of increased radiosensitivity in ataxia-telangiectasia (AT) cells may be a defect in their ability to respond to DNA… 
Highly Cited
1975
Highly Cited
1975
ATAXIA telangiectasia (AT) is an autosomal recessive defect in man showing among the clinical features1 : cerebellar ataxia…