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Episodic ataxia type 2 (disorder)

Known as: Episodic ataxia with nystagmus, Acetazolamide-responsive episodic ataxia syndrome, Episodic Ataxia, Nystagmus-Associated 
National Institutes of Health

Related topics

Related topics

13 relations

Broader (2)

AtaxiaNystagmus
Autosomal dominant inheritanceCACNA1A geneCACNA1A, (CAG)n EXPANSION 601011.0008Dysarthria

Papers overview

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Highly Cited
2012
Highly Cited
2012
Mitochondrial dysfunction in ataxia-telangiectasia.
Ataxia-telangiectasia mutated (ATM) plays a central role in DNA damage responses, and its loss leads to development of T-cell… 
Review
2012
Review
2012
The ATM protein kinase and cellular redox signaling: beyond the DNA damage response.
Review
2010
Review
2010
Multiple roles of ATM in monitoring and maintaining DNA integrity
Highly Cited
2006
Highly Cited
2006
Rapid Activation of ATR by Ionizing Radiation Requires ATM and Mre11*
The ataxia-telangiectasia-mutated (ATM) and ATM- and Rad3-related (ATR) protein kinases are crucial regulatory proteins in… 
Review
2004
Review
2004
DNA damage-induced activation of ATM and ATM-dependent signaling pathways.
Highly Cited
2004
Highly Cited
2004
Autophosphorylation of ataxia‐telangiectasia mutated is regulated by protein phosphatase 2A
Ionizing radiation induces autophosphorylation of the ataxia‐telangiectasia mutated (ATM) protein kinase on serine 1981; however… 
Highly Cited
2003
Highly Cited
2003
Ataxia-telangiectasia-mutated (ATM) and NBS1-dependent Phosphorylation of Chk1 on Ser-317 in Response to Ionizing Radiation*
In mammals, the ATM (ataxia-telangiectasia-mutated) and ATR (ATM and Rad3-related) protein kinases function as critical… 
Highly Cited
2001
Highly Cited
2001
Regulation and Localization of the Bloom Syndrome Protein in Response to DNA Damage
Bloom syndrome (BS) is an autosomal recessive disorder characterized by a high incidence of cancer and genomic instability. BLM… 
Highly Cited
1999
Highly Cited
1999
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the… 
Highly Cited
1997
Highly Cited
1997
Interaction between ATM protein and c-Abl in response to DNA damage
The gene mutated in the autosomal recessive disorder ataxia telangiectasia (AT), designated ATM (for 'AT mutated'), is a member… 
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