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… (More)
National Institutes of Health

Papers overview

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Highly Cited
2009
Highly Cited
2009
BACKGROUND Neural stem cells are currently being investigated as potential therapies for neurodegenerative diseases, stroke, and… (More)
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Review
2008
Review
2008
First described over 80 years ago, ataxia-telangiectasia (A-T) was defined as a clinical entity 50 years ago. Although not… (More)
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Highly Cited
2006
Highly Cited
2006
We screened individuals from 443 familial breast cancer pedigrees and 521 controls for ATM sequence variants and identified 12… (More)
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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… (More)
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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… (More)
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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… (More)
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Review
1997
Review
1997
The autosomal recessive human disorder ataxia-telangiectasia (A-T) was first described as a separate disease entity 40 years ago… (More)
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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… (More)
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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… (More)
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Highly Cited
1992
Highly Cited
1992
Cell cycle checkpoints can enhance cell survival and limit mutagenic events following DNA damage. Primary murine fibroblasts… (More)
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